X-linked Non-syndromic Intellectual Disability

Description

Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.

Clinical Features

Phenotypes and symptoms related to X-linked Non-syndromic Intellectual Disability

  • Intellectual disability

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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X-linked Non-syndromic Intellectual Disability Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
7 %
X-linked mental retardation 63.

By Center for Human Genetics, Inc in United States.

ACSL4
Specificity
100 %
Genes
4 %
X-Linked Intellectual Disabilities Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 68 more genes
Specificity
23 %
Genes
63 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...)

View the complete list with 153 more genes
Specificity
14 %
Genes
75 %
X-linked Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago in United States.

ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15 , (...)

View the complete list with 59 more genes
Specificity
30 %
Genes
72 %
ACSL4 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

ACSL4
Specificity
100 %
Genes
4 %
CustomNext: Neuro.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
8 %
Genes
44 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)

View the complete list with 176 more genes
Specificity
8 %
Genes
44 %
IDNext.

By Ambry Genetics in United States.

KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...)

View the complete list with 120 more genes
Specificity
10 %
Genes
44 %
Mental retardation, X-linked type 63 (sequence analysis of ACSL4 gene).

By CGC Genetics in Portugal.

ACSL4
Specificity
100 %
Genes
4 %
X-linked mental retardation (deletion/duplication analysis, multiple genes).

By CGC Genetics in Portugal.

IL1RAPL1, ARHGEF6, RPS6KA3, GDI1, TSPAN7, AFF2, AGTR2, HUWE1, OPHN1, PAK3, PQBP1, DCX, ARX, SLC6A8, ACSL4, FMR1
Specificity
57 %
Genes
29 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7 , (...)

View the complete list with 69 more genes
Specificity
25 %
Genes
69 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A , (...)

View the complete list with 108 more genes
Specificity
22 %
Genes
88 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
4 %
Genes
91 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)

View the complete list with 323 more genes
Specificity
7 %
Genes
75 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)

View the complete list with 322 more genes
Specificity
8 %
Genes
75 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2 , (...)

View the complete list with 93 more genes
Specificity
22 %
Genes
75 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
9 %
Genes
72 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

HSPA9, TIMM44, NDUFB9, MIP, BCL2, CRBN, GSR, HADH, SCO1, COX10, LARS2, PDX1, BRIP1, SDHD, SDHA, PDHX, TMLHE, CPOX, OGG1, PPOX , (...)

View the complete list with 160 more genes
Specificity
1 %
Genes
4 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
2 %
Genes
66 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
4 %
Genes
38 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
5 %
Genes
57 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
7 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9 , (...)

View the complete list with 87 more genes
Specificity
24 %
Genes
79 %
ACSL4.

By Fulgent Genetics Fulgent Genetics in United States.

ACSL4
Specificity
100 %
Genes
4 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...)

View the complete list with 140 more genes
Specificity
14 %
Genes
69 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4 , (...)

View the complete list with 79 more genes
Specificity
23 %
Genes
69 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics in Spain.

ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR , (...)

View the complete list with 71 more genes
Specificity
17 %
Genes
47 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3 , (...)

View the complete list with 94 more genes
Specificity
24 %
Genes
85 %
X-linked Intellectual Disabilities Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 68 more genes
Specificity
23 %
Genes
63 %
Intellectual Disability via the ACSL4 Gene.

By PreventionGenetics PreventionGenetics in United States.

ACSL4
Specificity
100 %
Genes
4 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13 , (...)

View the complete list with 90 more genes
Specificity
15 %
Genes
50 %
Mental retardation, X-linked type 63.

By Centogene AG - the Rare Disease Company in Germany.

ACSL4
Specificity
100 %
Genes
4 %
Mental retardation, X-linked, non-syndromic.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ZNF674, IL1RAPL1, ZNF81, ARHGEF6, BRWD3, SHROOM4, RPS6KA3, FTSJ1, GDI1, UPF3B, TSPAN7, DLG3, ZNF41, ZNF711, AFF2, AGTR2, HUWE1, NLGN4X, AP1S2, CASK , (...)

View the complete list with 11 more genes
Specificity
55 %
Genes
54 %
ACSL4/FACL4-Related Disorders: ACSL4/FACL4 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACSL4
Specificity
100 %
Genes
4 %
ACSL4-related Disorders: ACSL4 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACSL4
Specificity
100 %
Genes
4 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1 , (...)

View the complete list with 71 more genes
Specificity
24 %
Genes
66 %
X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

ZNF674, IL1RAPL1, ZNF81, ARHGEF6, BRWD3, SHROOM4, RPS6KA3, FTSJ1, GDI1, UPF3B, TSPAN7, DLG3, ZNF41, ZNF711, AFF2, AGTR2, HUWE1, NLGN4X, AP1S2, CASK , (...)

View the complete list with 11 more genes
Specificity
55 %
Genes
54 %
DMD Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

DMD
Specificity
100 %
Genes
4 %
DMD Deletion/Duplication Analysis - Prenatal.

By Baylor Miraca Genetics Laboratories in United States.

DMD
Specificity
100 %
Genes
4 %
DMD Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

DMD
Specificity
100 %
Genes
4 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

View the complete list with 139 more genes
Specificity
2 %
Genes
7 %
GeneAware Basic Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

HBA2, HBA1, SMN1, DMD, CFTR, HBB, FMR1
Specificity
15 %
Genes
4 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
4 %
GeneAware ACMG/ACOG Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

MCOLN1, HBA2, HBA1, SMN1, DMD, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1, HBB, FMR1
Specificity
7 %
Genes
4 %
DMD Evaluation.

By Athena Diagnostics Inc in United States.

DMD
Specificity
100 %
Genes
4 %
DMD/BMD deletion/duplication detection.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DMD
Specificity
100 %
Genes
4 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
4 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GMPPB, LMOD3, SPEG, STAC3, POMK, TOR1AIP1, SLC5A7, HNRNPDL, MTMR14, TNNI2, TNPO3, MYF6, LIMS2, KLHL41, GLE1, COL12A1, AMPD1, FBXL4, GAN, HINT1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
4 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3 , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
4 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
4 %
Duchenne or Becker Muscular Dystrophy (DMD/BMD).

By Center for Human Genetics, Inc in United States.

DMD
Specificity
100 %
Genes
4 %
Duchenne Muscular Dystrophy.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

DMD
Specificity
100 %
Genes
4 %
DNA Analysis Dystrophin Gene.

By Molecular Pathology Laboratory Ohio State University in United States.

DMD
Specificity
100 %
Genes
4 %
Test for Dystrophinopathies.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

DMD
Specificity
100 %
Genes
4 %
Duchenne/Becker Muscular Dystrophy, Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DMD
Specificity
100 %
Genes
4 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 92 more genes
Specificity
2 %
Genes
7 %
Autsim Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...)

View the complete list with 87 more genes
Specificity
6 %
Genes
19 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
4 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

COL6A1, COL6A3, COL6A2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, EMD, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
DCM and DMD related Cardiomyopathy.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
4 %
Duchenne and Becker Muscular Dystrophy.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

DMD
Specificity
100 %
Genes
4 %
Dystrophinopathies.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

DMD
Specificity
100 %
Genes
4 %
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

DMD
Specificity
100 %
Genes
4 %
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

DMD
Specificity
100 %
Genes
4 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
4 %
Comprehensive Cardiomyopathy Panel.

By GeneDx in United States.

MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
4 %
Dystrophin Deletion.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

DMD
Specificity
100 %
Genes
4 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...)

View the complete list with 69 more genes
Specificity
7 %
Genes
19 %
DCMNext with TTN.

By Ambry Genetics in United States.

TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
4 %
DMD deletion/duplication.

By Ambry Genetics in United States.

DMD
Specificity
100 %
Genes
4 %
Muscular dystrophy Duchenne/Becker.

By Human Genetics University Hospital Bern in Switzerland.

DMD
Specificity
100 %
Genes
4 %
DMD. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DMD
Specificity
100 %
Genes
4 %
DMD. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DMD
Specificity
100 %
Genes
4 %
DMD. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

DMD
Specificity
100 %
Genes
4 %
Becker/Duchenne muscular dystrophy (DMD, deletion/duplication analysis of DMD gene).

By CGC Genetics in Portugal.

DMD
Specificity
100 %
Genes
4 %
Dystrophinopathies.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

DMD
Specificity
100 %
Genes
4 %
DYSTROPHINOPATHIES.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

DMD
Specificity
100 %
Genes
4 %
Congenital Muscular Dystrophy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GMPPB, POMK, COL12A1, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, POMT1, POMT2, DAG1, EMD , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
4 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
4 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

MYO18B, HNRNPA1, HNRNPA2B1, ALG14, PREPL, SYT2, COL13A1, MICU1, STIM1, ECEL1, MYH3, TNNT3, GMPPB, LMOD3, STAC3, POMK, TOR1AIP1, HNRNPDL, TNNI2, TNPO3 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
4 %
Duchenne muscular dystrophy.

By Institute of Human Genetics Cologne University in Germany.

DMD
Specificity
100 %
Genes
4 %
Muscular Dystrophy: Duchenne / Becker (Dystrophinopathy).

By MGZ Medical Genetics Center in Germany.

DMD
Specificity
100 %
Genes
4 %
Muscular Dystrophy: X-linked.

By MGZ Medical Genetics Center in Germany.

EMD, FHL1, DMD
Specificity
34 %
Genes
4 %
DMD-Related Dilated Cardiomyopathy.

By MGZ Medical Genetics Center in Germany.

DMD
Specificity
100 %
Genes
4 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
4 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

SLC6A5, GLRA1, GLRB, SLC52A3, ALG14, LRP4, PREPL, MICU1, ORAI1, STIM1, HADH, PGK1, FDX2, MYBPC1, PIEZO2, GMPPB, STAC3, POMK, TOR1AIP1, MTMR14 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
4 %
DMD-Related Dilated Cardiomyopathy.

By Bioscientia GmbH Center for Human Genetics in Germany.

DMD
Specificity
100 %
Genes
4 %
Dystrophinopathies.

By Bioscientia GmbH Center for Human Genetics in Germany.

DMD
Specificity
100 %
Genes
4 %
Muscular dystrophy Duchenne/Becker.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

DMD
Specificity
100 %
Genes
4 %
Dystrinopathies.

By GeneTech ATS GeneTech Private Limited in India.

DMD
Specificity
100 %
Genes
4 %
Cardiomyopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
4 %
Muscular dystrophy, Duchenne type.

By Centogene AG - the Rare Disease Company in Germany.

DMD
Specificity
100 %
Genes
4 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

GMPPB, ALG13, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
7 %
Duchenne or Becker muscular dystrophy.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DMD
Specificity
100 %
Genes
4 %
Duchenne or Becker muscular dystrophy.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DMD
Specificity
100 %
Genes
4 %
Duchenne or Becker muscular dystrophy (complete).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

DMD
Specificity
100 %
Genes
4 %
Limb girdle muscular dystrophy-Panel.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

SGCD, TCAP, POMT1, POMT2, DNAJB6, MYOT, ANO5, DES, DYSF, CAV3, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, DMD, TRIM32
Specificity
6 %
Genes
4 %
Dilated Cardiomyopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

TBX20, TMPO, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
DMD gene sequencing.

By Health in Code in Spain.

DMD
Specificity
100 %
Genes
4 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
4 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
4 %
Skeletal Myopathy Panel.

By Health in Code in Spain.

CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
4 %
Cardiomyopathies Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
4 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
10 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
Arrhythmia General Panel.

By Health in Code in Spain.

GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
4 %
Dystrophinopathies.

By Molecular and Cytogenetic Diagnostic Laboratories Genetics Center in United States.

DMD
Specificity
100 %
Genes
4 %
Cardiomyopathy, dilated, 3B.

By Praxis fuer Humangenetik Wien in Austria.

DMD
Specificity
100 %
Genes
4 %
Muscular dystrophy Duchenne.

By MedGene in Slovakia.

DMD
Specificity
100 %
Genes
4 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
4 %
Invitae Dilated Cardiomyopathy Panel.

By Invitae in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
4 %
Invitae Dystrophinopathies Test.

By Invitae in United States.

DMD
Specificity
100 %
Genes
4 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
4 %
Invitae Limb-Girdle Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, TNPO3, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
4 %
CARDIOMYOPATHY, DILATED (DCM.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
4 %
Duchenne/Becker Muscular Dystrophy: DMD Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DMD
Specificity
100 %
Genes
4 %
Dilated Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
4 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AMPD3, TNNI2, AMPD1, RYR2, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, TNNT1, TPM2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
4 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL6A1, COL6A3, COL6A2, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, SYNE2, SYNE1, FHL1, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
2 %
Genes
7 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1 , (...)

View the complete list with 39 more genes
Specificity
11 %
Genes
19 %
Cardiomyopathy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
4 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
7 %
Dilated Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
Muscular Dystrophies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MMEL1, SGCD, TCAP, POMT1, POMT2, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, FHL1, MYOT, ANO5, DES, TTN, DYSF, CAV3, FKRP, LMNA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
4 %
DMD.

By Fulgent Genetics Fulgent Genetics in United States.

DMD
Specificity
100 %
Genes
4 %
Emery-Dreifuss Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

EMD, TMEM43, FHL1, TTN, LMNA, DMD
Specificity
17 %
Genes
4 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
4 %
Cardiomyopathy, dilated type 3B.

By Bioarray in Spain.

DMD
Specificity
100 %
Genes
4 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
4 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
3 %
Genes
13 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
3 %
Genes
13 %
Familial Dilated Cardiomyopathy Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
4 %
Left Ventricular Noncompaction Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
4 %
Duchenne Muscular Dystrophy , Deletions-Duplications (MLPA) DMD Gene.

By Reference Laboratory Genetics in Spain.

DMD
Specificity
100 %
Genes
4 %
Becker Muscular Dystrophy , Deletions-Duplications (MLPA) DMD Gene.

By Reference Laboratory Genetics in Spain.

DMD
Specificity
100 %
Genes
4 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
4 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
4 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.

By Reference Laboratory Genetics in Spain.

BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...)

View the complete list with 57 more genes
Specificity
8 %
Genes
19 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.

By Reference Laboratory Genetics in Spain.

ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
4 %
Duchenne Muscular Dystrophy (Carrier analysis).

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

DMD
Specificity
100 %
Genes
4 %
planTrue Basic.

By True Health Diagnostics in United States.

SMN1, DMD, CFTR
Specificity
34 %
Genes
4 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
4 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
4 %
DMD Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

DMD
Specificity
100 %
Genes
4 %
DMD DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

DMD
Specificity
100 %
Genes
4 %
DMD Duplication/Deletion test.

By Athena Diagnostics Inc in United States.

DMD
Specificity
100 %
Genes
4 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, SYNE2, TMEM43, SYNE1, CCDC78, FHL1, MYOT, ANO5, DES, TTN , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
4 %
NGS Rhabdomyolysis and Metabolic Myopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PGK1, CTDP1, MT-CYB, CASQ1, FDX2, AMPD1, TSEN54, SIL1, RYR1, ATP2A1, ANO5, SCN4A, DYSF, CAV3, FKRP, FKTN, DMD, SLC25A20, ETFDH, ETFA , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
4 %
DNA Analysis Dystrophin Gene.

By Molecular Pathology Laboratory Ohio State University in United States.

DMD
Specificity
100 %
Genes
4 %
Test for DMD-Related Dilated Cardiomyopathy.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

DMD
Specificity
100 %
Genes
4 %
DMD/BMD Linkage Analysis.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

DMD
Specificity
100 %
Genes
4 %
Dilated Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
4 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)

View the complete list with 67 more genes
Specificity
22 %
Genes
60 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALG14, LRP4, PREPL, SYT2, HACD1, COL13A1, ORAI1, STIM1, GMPPB, LMOD3, SPEG, STAC3, POMK, HNRNPDL, TNPO3, MYF6, LIMS2, KLHL41, COL12A1, MYL2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
4 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
4 %
Pan Cardiomyopathy Panel (62 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
4 %
Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

DMD
Specificity
100 %
Genes
4 %
Duchenne/Becker Muscular Dystrophy (DMD) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

DMD
Specificity
100 %
Genes
4 %
DMD-Related Dilated Cardiomyopathy.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

DMD
Specificity
100 %
Genes
4 %
Dystrophinopathy (DMD).

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

DMD
Specificity
100 %
Genes
4 %
CardioNext with TTN.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
4 %
CMNext with TTN.

By Ambry Genetics in United States.

TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
4 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
7 %
Becker/Duchenne muscular dystrophy (DMD, sequence analysis of DMD gene).

By CGC Genetics in Portugal.

DMD
Specificity
100 %
Genes
4 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

GMPPB, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, DPM2, LAMA2, SMCHD1, ISPD, TCAP, POMT1, POMT2, EMD, SYNE2, TMEM43, SYNE1, SELENON, FHL1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
4 %
Dystrophinopathy via DMD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DMD
Specificity
100 %
Genes
4 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
4 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
4 %
Dystrophinopathies.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

DMD
Specificity
100 %
Genes
4 %
Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

HADH, PGK1, FDX2, AMPD1, RYR1, ANO5, DYSF, FKRP, DMD, SLC22A5, ETFDH, ETFA, ETFB, PYGM, PFKM, ISCU, LPIN1, ABHD5, HADHB, PNPLA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
4 %
Muscle Pain - fluctuating CK - Rhabdomyolysis.

By MGZ Medical Genetics Center in Germany.

AMPD1, LAMP2, RYR1, CACNA1S, ANO5, TTN, SCN4A, DYSF, FKRP, CLCN1, DNM2, DMD, SEPT9, ETFDH, ETFA, ETFB, PYGM, LPIN1, HADHB, HADHA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Dystrophinopathies.

By MGZ Medical Genetics Center in Germany.

DMD
Specificity
100 %
Genes
4 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

STIM1, HADH, GMPPB, TOR1AIP1, TNPO3, LIMS2, HINT1, LAMP2, HNRNPU, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, CHRNB1, CHRND, CHRNA1, GFPT1, COLQ, SGCD , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
4 %
Muscular dystrophy, Becker type.

By Centogene AG - the Rare Disease Company in Germany.

DMD
Specificity
100 %
Genes
4 %
Cardiomyopathy, dilated type 3B.

By Centogene AG - the Rare Disease Company in Germany.

DMD
Specificity
100 %
Genes
4 %
Muscular dystrophy, Becker Type, Duchenne Type.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

DMD
Specificity
100 %
Genes
4 %
Limb-Girdle Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

GMPPB, POMK, HNRNPDL, TNPO3, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, MYOT, ANO5, FLNC, DES, TTN, DYSF , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Single gene testing DMD.

By CeGaT GmbH in Germany.

DMD
Specificity
100 %
Genes
4 %
Duchenne and Becker Muscular Dystrophy.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

DMD
Specificity
100 %
Genes
4 %
Duchenne and Becker Muscular Dystrophy.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

DMD
Specificity
100 %
Genes
4 %
Duchenne and Becker Muscular Dystrophy.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology in India.

DMD
Specificity
100 %
Genes
4 %
Test for Dystrophinopathies.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

DMD
Specificity
100 %
Genes
4 %
DMD sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

DMD
Specificity
100 %
Genes
4 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
4 %
Skeletal myopathy Panel.

By Health in Code in Spain.

CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
4 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
4 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
4 %
Muscular dystrophy Becker.

By Praxis fuer Humangenetik Wien in Austria.

DMD
Specificity
100 %
Genes
4 %
Muscular dystrophy Duchenne.

By Praxis fuer Humangenetik Wien in Austria.

DMD
Specificity
100 %
Genes
4 %
Cardiomyopathy, dilated, 3B.

By MedGene in Slovakia.

DMD
Specificity
100 %
Genes
4 %
Muscular dystrophy Becker.

By MedGene in Slovakia.

DMD
Specificity
100 %
Genes
4 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
4 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

VMA21, STIM1, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL2, MYPN, FKBP14, LAMP2, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
4 %
Invitae Comprehensive Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, TNPO3, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
4 %
Invitae Congenital Muscular Dystrophy Panel.

By Invitae in United States.

GMPPB, POMK, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, TCAP, POMT1, POMT2, DAG1, FKRP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Duchenne / Becker muscular dystrophy: DMD gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DMD
Specificity
100 %
Genes
4 %
Duchenne / Becker muscular dystrophy: DMD gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DMD
Specificity
100 %
Genes
4 %
Duchenne/Becker Muscular Dystrophy: DMD Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DMD
Specificity
100 %
Genes
4 %
Autism Spectrum Disorders: Tier 2 Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK , (...)

View the complete list with 42 more genes
Specificity
10 %
Genes
19 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AMPD3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
4 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)

View the complete list with 97 more genes
Specificity
2 %
Genes
7 %
Cardiomyopathy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
4 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, CHRNG, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
4 %
Pan-Cardio NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
4 %
Autism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...)

View the complete list with 80 more genes
Specificity
6 %
Genes
19 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
4 %
Hypertrophic Cardiomyopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...)

View the complete list with 43 more genes
Specificity
2 %
Genes
4 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
4 %
LGMD and Congenital Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

VMA21, COL4A2, POGLUT1, GMPPB, SPEG, TOR1AIP1, TNPO3, LIMS2, COL4A1, ITGA7, B3GALNT2, LARGE1, POMGNT2, LAMA2, SMCHD1, ISPD, SGCD, TCAP, POMT1, DNAJB6 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

TMEM126B, VMA21, COL4A2, RBCK1, POGLUT1, MICU1, GMPPB, LMOD3, SPEG, TOR1AIP1, TNPO3, LIMS2, KLHL41, COL12A1, MME, VPS13A, COL4A1, ITGA7, B3GALNT2, COL6A1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
4 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel.

By Blueprint Genetics in Finland.

PLEKHM2, FBXO32, CTNNA3, VCL, DTNA, DSC2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, RYR2, PKP2, ABCC9, LAMP2, SCN5A, HCN4 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
4 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
4 %
Duchenne and Becker muscular dystrophy.

By Bioarray in Spain.

DMD
Specificity
100 %
Genes
4 %
Duchenne and Becker muscular dystrophy.

By Bioarray in Spain.

DMD
Specificity
100 %
Genes
4 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...)

View the complete list with 46 more genes
Specificity
5 %
Genes
10 %
Cardiomyopathy Exome Panel.

By Northwest Clinical Genomics Laboratory University of Washington in United States.

CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
4 %
Mutation analysis for Duchenne muscular dystrophy/Becker muscular dystrophy.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics in India.

DMD
Specificity
100 %
Genes
4 %
DMD Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

DMD
Specificity
100 %
Genes
4 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
4 %
MUSCULAR DYSTROPHY, DUCHENNE & BECKER.

By Laboratorio de Genetica Clinica SL in Spain.

DMD
Specificity
100 %
Genes
4 %
Becker Muscular Dystrophy , Sequencing DMD Gene.

By Reference Laboratory Genetics in Spain.

DMD
Specificity
100 %
Genes
4 %
Duchenne Muscular Dystrophy , Sequencing DMD Gene.

By Reference Laboratory Genetics in Spain.

DMD
Specificity
100 %
Genes
4 %
Duchenne Muscular Dystrophy (Deletion analysis of 20 exons).

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

DMD
Specificity
100 %
Genes
4 %
Duchenne Muscular Dystrophy (Deletion and Duplication study by MLPA).

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

DMD
Specificity
100 %
Genes
4 %
planTrue Extended.

By True Health Diagnostics in United States.

HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
4 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
4 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
4 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
4 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
4 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
4 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
4 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
4 %
Phosphorus Dilated Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
CEN4GEN Colorectal cancer: Extended Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MIER3, TCERG1, ATP6V0D2, ACVR1B, PTPN12, GALNT17, MAP2K4, MAP7, FZD3, MYO1B, CDC27, TCF7L2, BAX, DCC, ERBB2, MSH3, GPC6, PIK3R1, AKT1, FBXW7 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
4 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
3 %
Genes
22 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc in United States.

GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45 , (...)

View the complete list with 36 more genes
Specificity
13 %
Genes
22 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)

View the complete list with 125 more genes
Specificity
3 %
Genes
10 %
EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
3 %
Genes
10 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics in United States.

ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 80 more genes
Specificity
3 %
Genes
10 %
Rett and Rett-like syndrome (NGS panel of 8 genes).

By CGC Genetics in Portugal.

IQSEC2, TCF4, KCNA2, MBD5, MEF2C, FOXG1, CDKL5, MECP2
Specificity
25 %
Genes
7 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...)

View the complete list with 133 more genes
Specificity
3 %
Genes
13 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)

View the complete list with 202 more genes
Specificity
3 %
Genes
16 %
IQSEC2.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

IQSEC2
Specificity
100 %
Genes
4 %
Invitae Epilepsy Panel.

By Invitae in United States.

ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...)

View the complete list with 105 more genes
Specificity
4 %
Genes
13 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
3 %
Genes
29 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)

View the complete list with 263 more genes
Specificity
3 %
Genes
22 %
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)

View the complete list with 69 more genes
Specificity
6 %
Genes
16 %
Rett and Rett-like syndrome (NGS panel of 8 genes).

By CGC Genetics in Portugal.

IQSEC2, TCF4, KCNA2, MBD5, MEF2C, FOXG1, CDKL5, MECP2
Specificity
25 %
Genes
7 %
Intellectual Disability (Syndromic and Non-Syndromic) via the IQSEC2 Gene.

By PreventionGenetics PreventionGenetics in United States.

IQSEC2
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 1.

By Centogene AG - the Rare Disease Company in Germany.

IQSEC2
Specificity
100 %
Genes
4 %
Epilepsy and X-linked Mental Retardation with Seizures Panel.

By CeGaT GmbH in Germany.

PGK1, UBE2A, MED12, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, PCDH19 , (...)

View the complete list with 5 more genes
Specificity
29 %
Genes
22 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...)

View the complete list with 104 more genes
Specificity
5 %
Genes
16 %
Invitae Rett and Angelman Syndromes and Related Disorders Panel.

By Invitae in United States.

NGLY1, SATB2, EHMT1, ZEB2, IQSEC2, ATRX, CNTNAP2, TCF4, DYRK1A, NRXN1, SCN8A, KANSL1, MBD5, MEF2C, FOXG1, CDKL5, ALDH5A1, SLC9A6, STXBP1, MECP2 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
7 %
IQSEC2.

By Fulgent Genetics Fulgent Genetics in United States.

IQSEC2
Specificity
100 %
Genes
4 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...)

View the complete list with 113 more genes
Specificity
4 %
Genes
16 %
Early Infantile Epileptic Encephalopathy Panel.

By Genetic Services Laboratory University of Chicago in United States.

KCNH5, NECAP1, CLCN4, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, KCNA2, EEF1A2, CACNA2D2, ARFGEF2 , (...)

View the complete list with 25 more genes
Specificity
7 %
Genes
10 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
13 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...)

View the complete list with 166 more genes
Specificity
2 %
Genes
10 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...)

View the complete list with 192 more genes
Specificity
2 %
Genes
10 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...)

View the complete list with 108 more genes
Specificity
4 %
Genes
13 %
X-Linked Intellectual Disability via the CLCN4 Gene.

By PreventionGenetics PreventionGenetics in United States.

CLCN4
Specificity
100 %
Genes
4 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1 , (...)

View the complete list with 69 more genes
Specificity
4 %
Genes
10 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MASP1, MYO1A, DTD1, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, CEACAM16, DIAPH3, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, SEMA3E, POU4F3 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
4 %
RSK2 (RPS6KA3) Remaining Exons Sequencing.

By GeneDx in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
RSK2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry Syndrome (sequence analysis of RPS6KA3 gene).

By CGC Genetics in Portugal.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry syndrome (deletion/duplication analysis of RPS6KA3 gene).

By CGC Genetics in Portugal.

RPS6KA3
Specificity
100 %
Genes
4 %
COFFIN-LOWRY SYNDROME.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry Syndrome.

By MGZ Medical Genetics Center in Germany.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RPS6KA3
Specificity
100 %
Genes
4 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
7 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
7 %
Coffin Lowry syndrome: deletions-duplications analysis (MLPA) RPS6KA3 gene.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry Syndrome: RPS6KA3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SHOX2, IGF1R, IGF1, TBCE, WRN, CUL7, ROR2, SRCAP, SMARCAL1, STAT5B, INSR, TRIM37, EP300, THRB, LHX3, ERCC6, KDM6A, GLI2, SOX3, RPS6KA3 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
4 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, MITF, GPSM2, MT-RNR1, RPS6KA3, GRXCR2, SYNE4, ELMOD3, TMEM132E, OTOGL, CEACAM16, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
4 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MASP1, MYO1A, SLC29A3, SALL4, GPSM2, RPS6KA3, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
4 %
RPS6KA3.

By Fulgent Genetics Fulgent Genetics in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
4 %
Coffin-Lowry syndrome.

By Bioarray in Spain.

RPS6KA3
Specificity
100 %
Genes
4 %
COFFIN-LOWRY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry Syndrome, Sequencing RPS6KA3/RSK2 Gene.

By Reference Laboratory Genetics in Spain.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry syndrome.

By Labor Dr. Wisplinghoff in Germany.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry syndrome.

By Center for Human Genetics, Inc in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
RSK2 (RPS6KA3) Select Exons Sequencing.

By GeneDx in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
RSK2 (RPS6KA3) Gene Sequencing.

By GeneDx in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 19.

By Centogene AG - the Rare Disease Company in Germany.

RPS6KA3
Specificity
100 %
Genes
4 %
Invitae Coffin-Lowry Syndrome Test.

By Invitae in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin Lowry syndrome: RPS6KA3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

RPS6KA3
Specificity
100 %
Genes
4 %
Coffin-Lowry Syndrome: RPS6KA3 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RPS6KA3
Specificity
100 %
Genes
4 %
INTELLECTUAL DEFICIT (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

RPS6KA3, ARX, MECP2
Specificity
100 %
Genes
10 %
Coffin-Lowry Syndrome, Deletions-Duplications(MLPA) RPS6KA3/RSK2 Gene.

By Reference Laboratory Genetics in Spain.

RPS6KA3
Specificity
100 %
Genes
4 %
ARX Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ARX
Specificity
100 %
Genes
4 %
ARX Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ARX
Specificity
100 %
Genes
4 %
ARX Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

ARX
Specificity
100 %
Genes
4 %
ARX Sequencing and CNV Evaluation (Epilepsy).

By Athena Diagnostics Inc in United States.

ARX
Specificity
100 %
Genes
4 %
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc in United States.

TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
4 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc in United States.

TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2 , (...)

View the complete list with 47 more genes
Specificity
5 %
Genes
10 %
ARX Sequencing and CNV Evaluation (Intellectual Disability).

By Athena Diagnostics Inc in United States.

ARX
Specificity
100 %
Genes
4 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP , (...)

View the complete list with 63 more genes
Specificity
7 %
Genes
16 %
Agenesis of the Corpus Callosum.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

L1CAM, SLC12A6, ARX, MRPS16
Specificity
25 %
Genes
4 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...)

View the complete list with 78 more genes
Specificity
3 %
Genes
7 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

VPS35, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, CSF1R, DCAF17, CP, FTL, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
4 %
ARX-Related Disorder.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

ARX
Specificity
100 %
Genes
4 %
Rett/Angelman Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
10 %
Genes
7 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Cerebral Cortical Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RTTN, OCLN, VLDLR, RAB18, RAB3GAP2, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, RAB3GAP1, DCX, LARGE1, POMT1, POMT2, FKRP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Lissencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

LAMB1, SNAP29, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
4 %
ARX deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

ARX
Specificity
100 %
Genes
4 %
Rett/Angelman Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TRAPPC9, EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, WDR45, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
7 %
Comprehensive Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago in United States.

LAMB1, SNAP29, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, RELN, DCX, B3GALNT2, LARGE1, RXYLT1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
4 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AMHR2, AMH, MAMLD1, MAP3K1, ZFPM2, DHH, DYNC2H1, AKR1C2, B3GLCT, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, OPHN1, ATRX, LHCGR, SRY, DHCR7, ARX , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR , (...)

View the complete list with 150 more genes
Specificity
2 %
Genes
7 %
ARX.

By Institute for Human Genetics University Clinic Freiburg in Germany.

ARX
Specificity
100 %
Genes
4 %
ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX.

By Human Genetics Ruhr University in Germany.

ARX
Specificity
100 %
Genes
4 %
Comprehensive Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...)

View the complete list with 50 more genes
Specificity
3 %
Genes
7 %
STAT Epilepsy Panel.

By GeneDx in United States.

SPTAN1, SCN8A, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SCN1A, SLC2A1, PCDH19, MEF2C, CDKL5, ARX, ALDH7A1, STXBP1, MECP2, POLG
Specificity
12 %
Genes
7 %
Infantile Epilepsy Panel.

By GeneDx in United States.

ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...)

View the complete list with 33 more genes
Specificity
4 %
Genes
7 %
ARX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ARX
Specificity
100 %
Genes
4 %
ARX. Detection of the c.428_451dup duplication by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ARX
Specificity
100 %
Genes
4 %
ARX. Detection of the c.428_451dup duplication by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ARX
Specificity
100 %
Genes
4 %
ARX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ARX
Specificity
100 %
Genes
4 %
Angelman/Rett Seq.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EHMT1, ZEB2, OPHN1, ATRX, TCF4, PNKP, DYRK1A, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
12 %
Genes
7 %
Angelman/Rett Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EHMT1, ZEB2, OPHN1, ATRX, TCF4, PNKP, DYRK1A, MBD5, FOLR1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
12 %
Genes
7 %
Angelman/ Rett Seq + Del/Dup.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EHMT1, ZEB2, OPHN1, ATRX, TCF4, PNKP, DYRK1A, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
12 %
Genes
7 %
Early infantile epileptic encephalopathy type 1, 2 and 3 (NGS panel for 3 genes).

By CGC Genetics in Portugal.

CDKL5, ARX, SLC25A22
Specificity
34 %
Genes
4 %
Epileptic encephalopathy (NGS panel for 67 genes).

By CGC Genetics in Portugal.

SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A , (...)

View the complete list with 47 more genes
Specificity
3 %
Genes
7 %
Lissencephaly (NGS panel for 12 genes).

By CGC Genetics in Portugal.

YWHAE, LAMB1, KATNB1, CDK5, PAFAH1B1, RELN, NDE1, DCX, POMT1, POMT2, ARX, TUBA1A
Specificity
9 %
Genes
4 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...)

View the complete list with 62 more genes
Specificity
3 %
Genes
7 %
X-Linked Lissencephaly-2 via ARX Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ARX
Specificity
100 %
Genes
4 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2, AKR1C4, DMRT2, DMRT1, SYCE1, CCDC141 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
4 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
7 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
2 %
Genes
7 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...)

View the complete list with 87 more genes
Specificity
5 %
Genes
16 %
Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZEB2, CNTNAP2, TCF4, NRXN1, WDR45, MBD5, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
16 %
Genes
7 %
Lissencephaly and related disorders Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Lissencephaly core NGS test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, KATNB1, CDK5, PAFAH1B1, RELN, NDE1, DCX, ARX, TUBA1A
Specificity
10 %
Genes
4 %
ARX-Related Disorders.

By MGZ Medical Genetics Center in Germany.

ARX
Specificity
100 %
Genes
4 %
Epileptic Encephalopathy – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

GABRA1, PNPO, KCNC1, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1A, PHGDH, PPT1, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
7 %
ARX.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ARX
Specificity
100 %
Genes
4 %
Epileptic encephalopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SRGAP2, MAPK10, TBCE, ZEB2, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, MAGI2, GRIN2A, PNPO, KCNQ2, KCNT1, GRIN2B, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
7 %
Epileptic syndromes with epilepsy and intellectual disability panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AUTS2, CNKSR2, MED12, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, CNTNAP2 , (...)

View the complete list with 30 more genes
Specificity
15 %
Genes
22 %
Partington syndrome.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
Epileptic encephalopathy early infantile type 1.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
ARX.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

ARX
Specificity
100 %
Genes
4 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
7 %
Neuronal Migration Disorders Panel.

By CeGaT GmbH in Germany.

DCHS1, SNAP29, KIF2A, KIF5C, TUBG1, RTTN, PIK3R2, VLDLR, IER3IP1, RAB18, PIK3CA, EOMES, RAB3GAP2, GMPPB, POMK, FAT4, LAMC3, MED12, ACTG1, ACTB , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
7 %
Hereditary Degenerative Syndromes Panel.

By CeGaT GmbH in Germany.

DRD1, NUP62, SLC30A10, HEPACAM, SLC6A3, FBXO7, CSF1R, FTL, JPH3, C19orf12, SLC16A2, TAF1, FUCA1, VPS13A, WDR45, ATP13A2, ARFGEF2, DCTN1, ATN1, TBP , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
7 %
Single gene testing ARX.

By CeGaT GmbH in Germany.

ARX
Specificity
100 %
Genes
4 %
ARX-Related Disorders.

By GGA - Galil Genetic Analysis in Israel.

ARX
Specificity
100 %
Genes
4 %
Epileptic encephalopathy, early infantile 01.

By Praxis fuer Humangenetik Wien in Austria.

ARX
Specificity
100 %
Genes
4 %
Hydranencephaly with abnormal genitalia.

By Praxis fuer Humangenetik Wien in Austria.

ARX
Specificity
100 %
Genes
4 %
Proud syndrome.

By Praxis fuer Humangenetik Wien in Austria.

ARX
Specificity
100 %
Genes
4 %
West syndrome.

By Praxis fuer Humangenetik Wien in Austria.

ARX
Specificity
100 %
Genes
4 %
ARX.

By Division Human Genetics Medical University Innsbruck in Austria.

ARX
Specificity
100 %
Genes
4 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
4 %
Genes
16 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

CBX2, DMRT1, NR3C1, AMHR2, AMH, MAMLD1, WDR60, NEK1, FRAS1, RSPO1, MAP3K1, ZFPM2, TSPYL1, WNT4, ROR2, DHH, HOXA13, FREM2, GRIP1, DYNC2H1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
4 %
Lissencephaly, X-linked 2.

By MedGene in Slovakia.

ARX
Specificity
100 %
Genes
4 %
Encephalopathy, Early infantile epilectic: ARX gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ARX
Specificity
100 %
Genes
4 %
LISSENCEPHALY.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

YWHAE, PAFAH1B1, RELN, NDE1, DCX, ARX, TUBA1A
Specificity
15 %
Genes
4 %
Autism.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN , (...)

View the complete list with 8 more genes
Specificity
11 %
Genes
10 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 90 more genes
Specificity
2 %
Genes
7 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
4 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
4 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
2 %
Genes
16 %
Lissencephaly NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VLDLR, ACTG1, ACTB, PAFAH1B1, RELN, DCX, LARGE1, POMT1, POMT2, FKRP, POMGNT1, FKTN, ARX, TUBA1A
Specificity
8 %
Genes
4 %
Essential Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2 , (...)

View the complete list with 50 more genes
Specificity
5 %
Genes
10 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
7 %
X-linked nonsyndromic intellectual deficit.

By Bioarray in Spain.

ARX
Specificity
100 %
Genes
4 %
X-linked lissencephaly with abnormal genitalia.

By Bioarray in Spain.

ARX
Specificity
100 %
Genes
4 %
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY.

By Laboratorio de Genetica Clinica SL in Spain.

SPTAN1, KCNQ2, CDKL5, ARX, SLC25A22, STXBP1
Specificity
17 %
Genes
4 %
PARTINGTON  SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ARX
Specificity
100 %
Genes
4 %
INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

NECAP1, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, GNAO1, SLC13A5, KCNB1, KCNQ2, HCN1, SCN2A, SCN1A, PCDH19, CDKL5, ARX, SLC25A22, STXBP1
Specificity
6 %
Genes
4 %
Early Infantile Epileptic Encephalopathy Type 1, Sequencing ARX Gene.

By Reference Laboratory Genetics in Spain.

ARX
Specificity
100 %
Genes
4 %
Lissencephaly, Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

PAFAH1B1, RELN, NDE1, DCX, ARX, TUBA1A
Specificity
17 %
Genes
4 %
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

HERC2, BDNF, FOXP1, FOXP2, NTNG1, SHANK3, TCF4, KCNQ2, SCN2A, PLP1, MEF2C, FOXG1, CDKL5, ARX, ALDH5A1, STXBP1, MECP2, UBE3A
Specificity
12 %
Genes
7 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.

By Reference Laboratory Genetics in Spain.

CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
4 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
4 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
13 %
Syndromic disorders of sexual development: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GATA4, SOX9, POR, ATRX, DHCR7, ARX, WT1
Specificity
15 %
Genes
4 %
ARX Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ARX
Specificity
100 %
Genes
4 %
ARX Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ARX
Specificity
100 %
Genes
4 %
ARX Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

ARX
Specificity
100 %
Genes
4 %
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms.

By Athena Diagnostics Inc in United States.

SPTAN1, ST3GAL3, NR2F1, TBL1XR1, CACNA2D1, GRIN2A, SLC35A2, SCN2A, GABRB3, MEF2C, FOXG1, CDKL5, ARX, SLC25A22, STXBP1, ADSL
Specificity
7 %
Genes
4 %
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CTNNB1, EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PQBP1, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
7 %
ARX-related spectrum.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ARX
Specificity
100 %
Genes
4 %
ARX.

By Center for Human Genetics, Inc in United States.

ARX
Specificity
100 %
Genes
4 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
4 %
Genes
13 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, ADAR, C19orf12, ERCC6, TAF1, AP1S2, VPS13A , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
4 %
Infantile Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...)

View the complete list with 40 more genes
Specificity
4 %
Genes
7 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

WDR60, SPECC1L, NEK1, FEZF1, ICK, IRF6, FRAS1, RSPO1, NSMF, MAP3K1, ZFPM2, CCNQ, TSPYL1, WNT7A, WNT4, TBX15, SEMA3A, ROR2, DNMT3B, DHH , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
4 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
4 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...)

View the complete list with 41 more genes
Specificity
4 %
Genes
7 %
ARX sequencing.

By Genetic Services Laboratory University of Chicago in United States.

ARX
Specificity
100 %
Genes
4 %
Classic Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago in United States.

VLDLR, ACTG1, ACTB, PAFAH1B1, RELN, DCX, ARX, TUBA1A
Specificity
13 %
Genes
4 %
Epilepsy Panel - Comprehensive.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
7 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

OCLN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, TSEN2, TSEN34, LAMC3, CASK, OPHN1, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
4 %
Cortical Brain Malformations Panel.

By GeneDx in United States.

OCLN, VLDLR, EOMES, LAMC3, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, DCX, ARFGEF2, LARGE1, POMT1, POMT2, FKRP, POMGNT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
Lissencephaly Panel.

By GeneDx in United States.

LAMB1, VLDLR, GMPPB, ACTG1, ACTB, PAFAH1B1, RELN, NDE1, DCX, B3GALNT2, LARGE1, RXYLT1, POMGNT2, B4GAT1, ISPD, POMT1, POMT2, FKRP, POMGNT1, FKTN , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
Rett/Atypical Rett/Angelman.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

EHMT1, ZEB2, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, MBD5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
13 %
Genes
7 %
EpiFirst-Infantile Spasms.

By Ambry Genetics in United States.

SPTAN1, GRIN1, SCN8A, SIK1, DNM1, EEF1A2, GRIN2A, KCNQ2, KCNT1, SCN2A, TSC1, TSC2, FOXG1, CDKL5, ARX, SLC25A22, STXBP1
Specificity
6 %
Genes
4 %
SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CHRNA4, CHRNA2, KCNQ3, KCNQ2, SCN2A, CHRNB2, SCN1A, SLC2A1, PCDH19, CDKL5, ARX, STXBP1
Specificity
9 %
Genes
4 %
ARX. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ARX
Specificity
100 %
Genes
4 %
Infantile Spasms/Atypical Rett Panel - MECP2, ARX, CDKL5 Sequence and Del/Dup Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

CDKL5, ARX, MECP2
Specificity
67 %
Genes
7 %
ARX gene (sequence analysis).

By CGC Genetics in Portugal.

ARX
Specificity
100 %
Genes
4 %
Lissencephaly (deletion/duplication analysis on ARX gene).

By CGC Genetics in Portugal.

ARX
Specificity
100 %
Genes
4 %
Early infantile epileptic encephalopathy (NGS panel for 26 genes).

By CGC Genetics in Portugal.

ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, TBC1D24, GABRA1, KCNQ2, KCNT1, HCN1, GRIN2B, SCN2A, SCN1A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CBX2, AKR1C4, STAG3, PRLR, PADI6, SOHLH1, DMRT2, DMRT1, SYCE1, CCDC141, AXL, MCM9, ZP1, NUP107, HS6ST1, SPRY4, DUSP6, FLRT3, NR3C1, KISS1 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
4 %
Lissencephaly and related disorders NGS test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Lissencephaly and related disorders Comprehensive test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, SNAP29, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, VLDLR, GMPPB, POMK, TUBB2A, ACTG1, ACTB, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
4 %
Lissencephaly core Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, KATNB1, CDK5, PAFAH1B1, RELN, NDE1, DCX, ARX, TUBA1A
Specificity
10 %
Genes
4 %
Lissencephaly core Comprehensive test.

By Connective Tissue Gene Tests in United States.

TMTC3, LAMB1, KATNB1, CDK5, PAFAH1B1, RELN, NDE1, DCX, ARX, TUBA1A
Specificity
10 %
Genes
4 %
Angelman Syndrome and Differential Diagnoses.

By MGZ Medical Genetics Center in Germany.

HERC2, EHMT1, ZEB2, KDM5C, ATRX, CNTNAP2, TCF4, DYRK1A, NRXN1, NEXMIF, MBD5, SYNGAP1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
10 %
Genes
7 %
Corpus callosum, agenesis of, with abnormal genitalia.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
Lissencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

YWHAE, PAFAH1B1, RELN, NDE1, DCX, ARX, TUBA1A
Specificity
15 %
Genes
4 %
Early infantile epileptic encephalopathy type 1.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
Lissencephaly, X-linked type 2.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
Mental retardation, x-linked, with or without seizures , ARX-related.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
Proud syndrome.

By Centogene AG - the Rare Disease Company in Germany.

ARX
Specificity
100 %
Genes
4 %
Epileptic Encephalopathy Panel.

By CeGaT GmbH in Germany.

GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1 , (...)

View the complete list with 57 more genes
Specificity
4 %
Genes
10 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

MED20, CACNA1B, CIZ1, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, KCTD17, HPCA, ANO3, COX20, PRKRA, CSF1R, FTL, TUBB4A, KIF1C, TAF1, VPS13A, PRRT2 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
7 %
Test for ARX-Related Disorders.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

ARX
Specificity
100 %
Genes
4 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...)

View the complete list with 125 more genes
Specificity
2 %
Genes
7 %
Autism Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B , (...)

View the complete list with 32 more genes
Specificity
8 %
Genes
13 %
Lissencephaly, X-linked 2.

By Praxis fuer Humangenetik Wien in Austria.

ARX
Specificity
100 %
Genes
4 %
Partington syndrome.

By Praxis fuer Humangenetik Wien in Austria.

ARX
Specificity
100 %
Genes
4 %
Epileptic encephalopathy, early infantile 01.

By MedGene in Slovakia.

ARX
Specificity
100 %
Genes
4 %
Hydranencephaly with abnormal genitalia.

By MedGene in Slovakia.

ARX
Specificity
100 %
Genes
4 %
Partington syndrome.

By MedGene in Slovakia.

ARX
Specificity
100 %
Genes
4 %
Proud syndrome.

By MedGene in Slovakia.

ARX
Specificity
100 %
Genes
4 %
West syndrome.

By MedGene in Slovakia.

ARX
Specificity
100 %
Genes
4 %
Invitae Early Infantile Epileptic Encephalopathy Panel.

By Invitae in United States.

FRRS1L, IER3IP1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, PIGA, SCN8A, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
4 %
EPILEPSY HEREDITARY PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
Epileptic encephalopathies.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MAPK10, AARS, TREX1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, SRPX2, DCX, TBC1D24, MBD5, GRIN2A, GABRA1, CHD2, KCNQ2 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
7 %
Rett, Syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HERC2, BDNF, FOXP1, FOXP2, NTNG1, SHANK3, TCF4, KCNQ2, SCN2A, PLP1, MEF2C, FOXG1, CDKL5, ARX, ALDH5A1, STXBP1, MECP2, UBE3A
Specificity
12 %
Genes
7 %
ARX-Related Disorders: ARX Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ARX
Specificity
100 %
Genes
4 %
ARX-Related Disorders: ARX Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ARX
Specificity
100 %
Genes
4 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
2 %
Genes
7 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SERAC1, PDGFRB, SLC6A3, DRD2, MR1, DDC, EARS2, FBXO7, MAT1A, SLC20A2, TPK1, SLC46A1, DRD5, TREM2, DCAF17, CP, VPS37A, ADAR, C19orf12, ERCC6 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
4 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)

View the complete list with 87 more genes
Specificity
2 %
Genes
7 %
Migraine NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PNPO, KCNQ2, FOLR1, ATP1A2, CACNA1A, SCN1A, PHGDH, PPT1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT, MECP2, POLG
Specificity
12 %
Genes
7 %
Rett-Angelman Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRAPPC9, MED17, CAV1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
12 %
Genes
7 %
ARX.

By Fulgent Genetics Fulgent Genetics in United States.

ARX
Specificity
100 %
Genes
4 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...)

View the complete list with 69 more genes
Specificity
6 %
Genes
16 %
Lissencephaly Panel.

By Blueprint Genetics in Finland.

YWHAE, LAMB1, TUBG1, KATNB1, VLDLR, ACTG1, ACTB, TUBB2B, PAFAH1B1, RELN, DCX, LARGE1, POMGNT2, ISPD, POMT1, FKTN, ARX, TUBA1A, ATP6V0A2
Specificity
6 %
Genes
4 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

MKRN3, AMHR2, AMH, MAMLD1, IRF6, FRAS1, RSPO1, MAP3K1, ZFPM2, DHH, IL17RD, DYNC2H1, CYP19A1, CEP41, GATA4, SRD5A2, HSD17B3, NR5A1, SOX9, POR , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
4 %
Partington syndrome.

By Bioarray in Spain.

ARX
Specificity
100 %
Genes
4 %
MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY.

By Laboratorio de Genetica Clinica SL in Spain.

ARX
Specificity
100 %
Genes
4 %
INTELLECTUAL DEFICIT AND EPILEPSY (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

ATP6AP2, OPHN1, ARX
Specificity
34 %
Genes
4 %
PROUD-LEVINE-CARPENTER SYNDROME (MICRENCEPHALY - CORPUS CALLOSUM AGENESIS - ABNORMAL GENITALIA).

By Laboratorio de Genetica Clinica SL in Spain.

ARX
Specificity
100 %
Genes
4 %
LISSENCEPHALY WITH AMBIGUOUS GENITALIA.

By Laboratorio de Genetica Clinica SL in Spain.

ARX
Specificity
100 %
Genes
4 %
WEST SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ARX
Specificity
100 %
Genes
4 %
X-Linked Lissencephaly Type 2 , Sequencing ARX Gene.

By Reference Laboratory Genetics in Spain.

ARX
Specificity
100 %
Genes
4 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Early Infantile Epileptic Encephalopathy Types 1,2 and 3 , Panel Massive Sequencing (NGS) (ARX, CDKL5, SLC25A22) Genes.

By Reference Laboratory Genetics in Spain.

CDKL5, ARX, SLC25A22
Specificity
34 %
Genes
4 %
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

ITPA, AP3B2, SLC1A2, AARS, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, TBC1D24, ALG13, GABRA1, KCNQ2, HCN1, GRIN2B, SCN2A, SCN9A , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
7 %
MECP2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

MECP2
Specificity
100 %
Genes
4 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories in United States.

NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
4 %
Rett Syndrome (MECP2) Duplication/Deletion Test.

By Athena Diagnostics Inc in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2-Related Disorders.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 deletion/duplication.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome, MECP2, Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome, MECP2, Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome, MECP2, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett - Angelman Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ZEB2, CNTNAP2, TCF4, NRXN1, WDR45, MBD5, MEF2C, FOXG1, CDKL5, SLC9A6, MECP2, UBE3A
Specificity
9 %
Genes
4 %
MECP2 related disorders.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Sequencing, Family-targeted (Single Exon Sequencing - Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Deletion/Duplication Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 related disorders-RETT syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

MECP2
Specificity
100 %
Genes
4 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC1A4, PPP1R15B, USP18, TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, TRAPPC9, CEP63, KNL1, CEP135, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
4 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
4 %
Rett Syndrome.

By United States Air Force Molecular Diagnostic Laboratory United States Air Force in United States.

MECP2
Specificity
100 %
Genes
4 %
RETT syndrome (MECP2).

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MECP2
Specificity
100 %
Genes
4 %
RETT SYNDROME; RTT.

By Human Genetics Ruhr University in Germany.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome (MECP2), Full Gene Analysis.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome (MECP2), Deletion and Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Duplication Syndrome.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

MECP2
Specificity
100 %
Genes
4 %
AutismNext.

By Ambry Genetics in United States.

POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11 , (...)

View the complete list with 28 more genes
Specificity
11 %
Genes
16 %
MECP2 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

MECP2
Specificity
100 %
Genes
4 %
EpiRapid.

By Ambry Genetics in United States.

SCN8A, PRRT2, PNPO, KCNQ3, KCNQ2, KCNT1, FOLR1, SCN1A, TSC1, TSC2, SLC2A1, PCDH19, ALDH7A1, STXBP1, MECP2, POLG
Specificity
7 %
Genes
4 %
MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SPTAN1, SRPX2, GABRG2, SCN1B, LGI1, SLC25A22, POLG2, MECP2, POLG
Specificity
12 %
Genes
4 %
MECP2. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By Molecular Diagnostics Laboratory Hospital Sainte-Justine in Canada.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome - MECP2 Sequence and Del/Dup Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome - MECP2 Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome - MECP2 Deletion/Duplication Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome - MECP2 Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Gene Deletion/Duplication Analysis.

By Molecular Genetics Laboratory Children's Mercy Hospital and Clinics in United States.

MECP2
Specificity
100 %
Genes
4 %
X-Linked Syndromic Mental Retardation 13.

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome (sequence and deletion/duplication analysis of MECP2 gene).

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome (sequence analysis of MECP2 gene).

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
Psychomotor development delay (various syndromes, deletion/duplication analysis).

By CGC Genetics in Portugal.

NF1, MECP2
Specificity
50 %
Genes
4 %
MECP2-Related Disorders.

By Laboratory of Genetics HUSLAB in Finland.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome via the MECP2 Gene.

By PreventionGenetics PreventionGenetics in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome, Congenital Variant.

By MGZ Medical Genetics Center in Germany.

MECP2
Specificity
100 %
Genes
4 %
Angelman-like syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Mental retardation X-linked, syndromic, Lubs type.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Mental retardation, X-Linked type 13.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Autism Spectrum Disorders / Intellectual Disability.

By Michigan Medical Genetics Laboratories University of Michigan in United States.

MECP2, PTEN
Specificity
50 %
Genes
4 %
MECP2-Related Disorders.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MECP2
Specificity
100 %
Genes
4 %
Angelman syndrome (MECP2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MECP2
Specificity
100 %
Genes
4 %
METHYL-CpG-BINDING PROTEIN 2.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MECP2
Specificity
100 %
Genes
4 %
MECP2-Related Disorders.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Duplication Syndrome.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

MECP2
Specificity
100 %
Genes
4 %
Angelman syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MECP2
Specificity
100 %
Genes
4 %
Angelman syndrome.

By MedGene in Slovakia.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome: MECP2 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome: MECP2 gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome: MECP2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2.

By Fulgent Genetics Fulgent Genetics in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

MECP2
Specificity
100 %
Genes
4 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics in Finland.

CNOT3, EN2, COL4A3BP, TCF20, KMT5B, CNTN6, CTNND2, TRIP12, BCL11A, POGZ, CC2D1A, RPL10, NLGN3, NLGN4X, CACNA1C, FOXP1, ADNP, PTCHD1, SHANK3, NSD1 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
7 %
Rett syndrome.

By Bioarray in Spain.

MECP2
Specificity
100 %
Genes
4 %
Angelman syndrome.

By Bioarray in Spain.

MECP2
Specificity
100 %
Genes
4 %
MeCP2 mutation detection.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MECP2
Specificity
100 %
Genes
4 %
RETT SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FOXG1, CDKL5, MECP2
Specificity
34 %
Genes
4 %
Rett Syndrome, Deletions-Duplications (MLPA) MECP2 Gene.

By Reference Laboratory Genetics in Spain.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Duplication Syndrome: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MECP2
Specificity
100 %
Genes
4 %
Complete Rett Syndrome Evaluation.

By Athena Diagnostics Inc in United States.

MECP2
Specificity
100 %
Genes
4 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
4 %
Rett Syndrome.

By Center for Human Genetics, Inc in United States.

MECP2
Specificity
100 %
Genes
4 %
Autism Spectrum Disorders 53-Gene Panel.

By Center for Human Genetics, Inc in United States.

CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2 , (...)

View the complete list with 33 more genes
Specificity
10 %
Genes
16 %
Childhood Epilepsy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
4 %
Microcephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MYCN, RBBP8, IER3IP1, RAB18, RAB3GAP2, ATR, PCNT, CDK5RAP2, CEP152, ZEB2, CASK, ATRX, TCF4, STIL, RAB3GAP1, CENPJ, ASPM, MCPH1, NIPBL, WDR62 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
4 %
MECP2 Sequencing, Full Gene.

By Molecular Diagnostic Laboratory LabCorp in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

MECP2
Specificity
100 %
Genes
4 %
Angelman Syndrome Tier 2 Panel.

By Genetic Services Laboratory University of Chicago in United States.

TCF4, SLC9A6, MECP2, UBE3A
Specificity
25 %
Genes
4 %
Rett/Atypical Rett Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

MEF2C, FOXG1, CDKL5, MECP2
Specificity
25 %
Genes
4 %
MECP2 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

MECP2
Specificity
100 %
Genes
4 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, TRAPPC9, CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
4 %
Rett Syndrome.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome (MECP2), Full Gene Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

MECP2
Specificity
100 %
Genes
4 %
Childhood-Onset Epilepsy Panel.

By GeneDx in United States.

ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
4 %
Rett/Angelman Syndrome Panel.

By GeneDx in United States.

ZEB2, CNTNAP2, TCF4, NRXN1, MBD5, MEF2C, FOXG1, CDKL5, SLC9A6, MECP2, UBE3A
Specificity
10 %
Genes
4 %
MECP2 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

MECP2
Specificity
100 %
Genes
4 %
MECP2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MECP2
Specificity
100 %
Genes
4 %
MECP2, NTNG1, CDKL5. NextGeneDx. Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NTNG1, CDKL5, MECP2
Specificity
34 %
Genes
4 %
MECP2 Gene Sequence Analysis.

By Molecular Genetics Laboratory Children's Mercy Hospital and Clinics in United States.

MECP2
Specificity
100 %
Genes
4 %
MECP2 duplication syndrome.

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
MECP2-Related Angelman-like Syndrome.

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome (deletion/duplication analysis of MECP2 gene).

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
Mental retardation, X-linked syndromic, Lubs type (deletion/duplication analysis of MECP2).

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
Encephalopathy (deletion/duplication analysis of MECP2 gene).

By CGC Genetics in Portugal.

MECP2
Specificity
100 %
Genes
4 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

CACNA1B, SLC30A10, GNAL, BCAP31, KCTD17, HPCA, ANO3, PRKRA, SLC6A3, DRD2, MR1, DDC, FTL, TUBB4A, TAF1, ACTB, VPS13A, PRRT2, KCNMA1, ATP1A3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
4 %
MECP2-Related Disorders.

By MGZ Medical Genetics Center in Germany.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Central hypoventilation syndrome, congenital.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Autism susceptibility, X-linked type 3.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Encephalopathy neonatal severe.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome preserved speech variant.

By Centogene AG - the Rare Disease Company in Germany.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MECP2
Specificity
100 %
Genes
4 %
Test for MECP2-Related Disorders.

By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.

MECP2
Specificity
100 %
Genes
4 %
METHYL-CpG-BINDING PROTEIN 2.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MECP2
Specificity
100 %
Genes
4 %
MECP2-Related Disorders.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

MECP2
Specificity
100 %
Genes
4 %
MECP2 Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

MECP2
Specificity
100 %
Genes
4 %
MECP2.

By Division Human Genetics Medical University Innsbruck in Austria.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By MedGene in Slovakia.

MECP2
Specificity
100 %
Genes
4 %
Mental retardation, X-linked, Lubs type: MECP2 gene duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome: MECP2 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MECP2
Specificity
100 %
Genes
4 %
Rett Syndrome Rearrangement (Deletion or Duplication).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

MECP2
Specificity
100 %
Genes
4 %
Central Hypoventilation and Apnea Panel.

By Blueprint Genetics in Finland.

SLC6A5, GLRA1, EDN3, ZEB2, CHRNB1, CHRND, CHRNA1, COLQ, SCN4A, RAPSN, CHRNE, PHOX2B, CHAT, MECP2, RET
Specificity
7 %
Genes
4 %
Comprehensive Pulmonology Panel.

By Blueprint Genetics in Finland.

SLC34A2, PIH1D3, SLC6A5, GLRA1, ITGA3, SFTPA1, SFTPA2, DNAI1, SFTPB, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
4 %
Rett syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

CDKL5, MECP2
Specificity
50 %
Genes
4 %
Rett Plus Atypical Rett Syndrome Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

MEF2C, FOXG1, CDKL5, MECP2
Specificity
25 %
Genes
4 %
Rett Syndrome, Sequencing MECP2 Gene.

By Reference Laboratory Genetics in Spain.

MECP2
Specificity
100 %
Genes
4 %
X-Linked Mental Retardation Type Lubs , Duplication MECP2 Gene.

By Reference Laboratory Genetics in Spain.

MECP2
Specificity
100 %
Genes
4 %
Rett syndrome.

By Labor Dr. Wisplinghoff in Germany.

MECP2
Specificity
100 %
Genes
4 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
4 %
Glycosylation disorder type Is (sequence analysis of ALG13 gene).

By CGC Genetics in Portugal.

ALG13
Specificity
100 %
Genes
4 %
Congenital Disorders of Glycosylation (CDG).

By MGZ Medical Genetics Center in Germany.

GMPPA, STT3A, STT3B, SSR4, MAN1B1, TMEM165, COG5, COG6, ALG11, COG4, ALG13, SLC35A2, MOGS, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
4 %
Glycosylation disorder type 1S.

By Centogene AG - the Rare Disease Company in Germany.

ALG13
Specificity
100 %
Genes
4 %
Congenital Disorders of Glycosylation (CDG) Panel.

By CeGaT GmbH in Germany.

TMEM165, COG5, COG6, ALG11, COG4, ALG13, SLC35A2, DPM2, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae in United States.

COG2, GMPPA, NGLY1, SSR4, TRIP11, MAN1B1, PGM3, G6PC3, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, GMPPB, CHST14, MAGT1, SEC23B, ALG13, SLC35A2 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
4 %
Congenital Disorders of Glycosylation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RPN2, B3GLCT, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
4 %
Congenital Disorders of Glycosylation Panel.

By Blueprint Genetics in Finland.

GMPPA, STT3A, STT3B, NGLY1, SSR4, MAN1B1, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, MAGT1, SEC23B, ALG13, SLC35A2, DPM2, MOGS, DPAGT1, DOLK , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
4 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
7 %
Congenital Disorders of Glycosylation.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

TMEM165, COG5, COG6, ALG11, COG4, ALG13, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12, ALG2, ALG8 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Congenital disorders of glycosylation (NGS panel for 39 genes).

By CGC Genetics in Portugal.

STT3A, STT3B, NGLY1, SSR4, MAN1B1, TMEM165, COG5, COG6, ALG11, COG4, ALG13, SLC35A2, DPM2, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
4 %
Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via ALG13 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALG13
Specificity
100 %
Genes
4 %
Congenital Disorders of Glycosylation (CDG) Panel.

By CeGaT GmbH in Germany.

TMEM165, COG5, COG6, ALG11, COG4, ALG13, SLC35A2, DPM2, MOGS, DPAGT1, DOLK, PMM2, MGAT2, SLC35C1, ALG3, MPI, ALG6, SLC35A1, B4GALT1, ALG12 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
4 %
Congenital disorder of N-linked glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MGAT1, MAN1B1, TMEM165, ALG11, ALG13, GFPT1, MOGS, DPAGT1, PMM2, MGAT2, ALG3, MPI, ALG6, ALG12, ALG2, ALG8, ALG1, ALG9, TUSC3, RFT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
4 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
4 %
Congenital Disorder of Glycosylation Type Is: ALG13 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALG13
Specificity
100 %
Genes
4 %
Congenital Disorder of Glycosylation Is: ALG13 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALG13
Specificity
100 %
Genes
4 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PIGM, RPN2, NGLY1, SLC35D1, GALNT3, CHST3, LFNG, MAN1B1, ALG14, PIGL, EXT1, EXT2, B3GLCT, TMEM165, COG5, COG6, ALG11, COG4, B3GAT3, CHST6 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
4 %
ALG13.

By Fulgent Genetics Fulgent Genetics in United States.

ALG13
Specificity
100 %
Genes
4 %
FG syndrome.

By Center for Human Genetics, Inc in United States.

MED12
Specificity
100 %
Genes
4 %
MED12-Related Disorders.

By Center for Human Genetics, Inc in United States.

MED12
Specificity
100 %
Genes
4 %
Connective Tissue Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
4 %
Familial Aneurysm and Aortopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
4 %
Macrocephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PIK3CA, GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, PTCH1, NSD1, PTEN
Specificity
19 %
Genes
7 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
10 %
Marfan/TAAD Sequencing & Del/Dup Panel.

By GeneDx in United States.

MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
7 %
Genes
4 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
4 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
4 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
4 %
MED12. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MED12
Specificity
100 %
Genes
4 %
MED12. Sequencing of the exons 4, 5, 20, 21, 22, 28 and 36.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MED12
Specificity
100 %
Genes
4 %
Connective Tissue Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
4 %
Connective Tissue Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
4 %
Lujan-Fryns syndrome (sequence analysis of MED12 gene).

By CGC Genetics in Portugal.

MED12
Specificity
100 %
Genes
4 %
Lujan-Fryns syndrome (deletion/duplication analysis on MED12 gene).

By CGC Genetics in Portugal.

MED12
Specificity
100 %
Genes
4 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Discorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

WDR26, KDM1A, TAF6, DLL4, EOGT, RBPJ, DOCK6, ARHGAP31, CTCF, ESCO2, SRCAP, AFF4, EP300, ARID1A, SMARCB1, SMARCA4, KMT2A, SOX11, SMARCE1, NOTCH1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
4 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
4 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
4 %
Macrocephaly.

By MGZ Medical Genetics Center in Germany.

DIS3L2, CCND2, HEPACAM, TBC1D7, KPTN, AKT1, AKT3, PIK3R2, GNAQ, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, ABCC6, BRWD3, UPF3B , (...)

View the complete list with 22 more genes
Specificity
8 %
Genes
10 %
Opitz-Kaveggia syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MED12
Specificity
100 %
Genes
4 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN
Specificity
6 %
Genes
4 %
Congenital heart diseases Panel.

By Health in Code in Spain.

ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
4 %
Aortic diseases Panel.

By Health in Code in Spain.

GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
4 %
Lujan Fryns syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MED12
Specificity
100 %
Genes
4 %
Opitz-Kaveggia syndrome.

By Praxis fuer Humangenetik Wien in Austria.

MED12
Specificity
100 %
Genes
4 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
4 %
Lujan Fryns syndrome.

By MedGene in Slovakia.

MED12
Specificity
100 %
Genes
4 %
Opitz-Kaveggia syndrome.

By MedGene in Slovakia.

MED12
Specificity
100 %
Genes
4 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

PRKG1, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
4 %
Invitae Overgrowth and Macrocephaly Syndromes Panel.

By Invitae in United States.

NPR2, DIS3L2, KPTN, AKT3, PIK3R2, AKT2, GLI3, EZH2, NFIX, DNMT3A, SPRED1, MED12, CUL4B, PHF6, SETD2, NF1, GPC3, CDKN1C, NSD1, PTEN
Specificity
5 %
Genes
4 %
MED12-Related Disorders: MED12 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MED12
Specificity
100 %
Genes
4 %
MED12-Related Disorders: MED12 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MED12
Specificity
100 %
Genes
4 %
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
6 %
Genes
4 %
MED12.

By Fulgent Genetics Fulgent Genetics in United States.

MED12
Specificity
100 %
Genes
4 %
Focus::CLL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

XPO1, TRAF2, PIM1, HIST1H1B, HIST1H1E, IKZF3, IRF4, BIRC3, PLCG2, CARD11, POT1, MYD88, SF3B1, NOTCH1, ZMYM3, MED12, BTK, CDKN2A, ATM, NRAS , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
4 %
Lujan-Fryns syndrome.

By Bioarray in Spain.

MED12
Specificity
100 %
Genes
4 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

BCL2L1, H3F3A, KLF4, TRAF7, PIK3C2B, HIST1H3B, JAK1, MCL1, PBRM1, DAXX, CDKN1A, MYB, MYBL1, RAD54B, ESR2, ESR1, KMT2C, FGFR4, ROS1, NFE2L2 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
4 %
Thoracic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

KMT2C, ROS1, KEAP1, ERBB2, DDR2, KDR, FLT1, AKT1, AKT3, AKT2, CDKN1B, BAP1, FANCA, FLT4, SMARCA4, ERBB3, MED12, KMT2D, FGFR1, NF1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
4 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
7 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
7 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
7 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

NKX2-8, RHOA, BCL2L1, ETV4, ETV1, GAS6, RPS6KB1, RHEB, SPOP, TIAF1, XPO1, ZNF217, JAK1, KNSTRN, IFITM1, APEX1, ATP11B, MDM4, BCL9, BIRC2 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
4 %
LUJAN-FRYNS SYNDROME (X-LINKED MENTAL RETARDATION WITH MARFANOID HABITUS).

By Laboratorio de Genetica Clinica SL in Spain.

MED12
Specificity
100 %
Genes
4 %
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN
Specificity
7 %
Genes
4 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

AURKA, TOP1, ABCC1, SLC29A1, STK11IP, SYK, SULT1A1, XRCC1, TOP2A, TOP2B, PLK1, JAK1, JUN, IKBKE, BCL2L2, AURKB, MDM4, MAP2K4, EMSY, CHEK1 , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
4 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
4 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SPOP, ZNF473, THSD7B, ZNF595, KDM4B, NRCAM, OR5L1, PDZRN3, NKX3-1, NIPA2, KLF6, GLI1, MYC, CDK12, SCN11A, TBX20, PIK3CA, CDKN1B, AKAP9, MED12 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
4 %
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GLI3, RNF135, EZH2, NFIX, DNMT3A, UPF3B, MED12, CUL4B, PHF6, GPC3, CDKN1C, PTCH1, NSD1, PTEN
Specificity
15 %
Genes
7 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RIN2, HEPACAM, TBC1D7, RNF125, NFIA, HERC1, KPTN, GLI3, RNF135, EZH2, NFIX, BRWD3, UPF3B, MED12, RAB39B, CUL4B, OFD1, SETD2, GPC3, NSD1 , (...)

View the complete list with 1 more genes
Specificity
15 %
Genes
10 %
MED12.

By Institute for Human Genetics University Clinic Freiburg in Germany.

MED12
Specificity
100 %
Genes
4 %
Marfan/TAAD Sequencing Panel.

By GeneDx in United States.

MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
7 %
Genes
4 %
TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
4 %
MED12. Detection of the mutation p.Asn1007Ser, p.Arg961Trp and p.Gly958Glu by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MED12
Specificity
100 %
Genes
4 %
Connective Tissue Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
4 %
Opitz-Kaveggia Syndrome (sequence analysis of MED12 gene).

By CGC Genetics in Portugal.

MED12
Specificity
100 %
Genes
4 %
Macrocephaly (NGS panel for 16 genes).

By CGC Genetics in Portugal.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, PTEN
Specificity
7 %
Genes
4 %
Opitz-Kaveggia syndrome (deletion/duplication analysis on MED12 gene).

By CGC Genetics in Portugal.

MED12
Specificity
100 %
Genes
4 %
Lujan-Fryns syndrome (deletion/duplication analysis on MED12 gene).

By CGC Genetics in Portugal.

MED12
Specificity
100 %
Genes
4 %
Opitz-Kaveggia syndrome (deletion/duplication analysis on MED12 gene).

By CGC Genetics in Portugal.

MED12
Specificity
100 %
Genes
4 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LOX, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, SMS , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
4 %
Lujan Syndrome, FG Syndrome Type 1 and Ohdo Syndrome via MED12 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MED12
Specificity
100 %
Genes
4 %
Opitz G/BBB Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPECC1L, EFNB1, MED12, MID1, ZEB2, CASK, FLNA
Specificity
15 %
Genes
4 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
4 %
FG syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

MED12
Specificity
100 %
Genes
4 %
Lujan-Fryns syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MED12
Specificity
100 %
Genes
4 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

HEPACAM, AKT3, PIK3R2, DHCR24, PIK3CA, EZH2, NFIX, MED12, GFAP, PIGN, PIGA, MLC1, GPC3, NSD1, ASPA, GCDH, PTEN
Specificity
6 %
Genes
4 %
Selected Genetic Syndromes with Seizures Panel.

By CeGaT GmbH in Germany.

C12orf57, SMARCA2, KDM6A, MED12, VPS13A, ZEB2, KCNJ10, PIGV, ROGDI, KMT2D, PIGO, LAMA2, PLA2G6, NSD1, TSC1, TSC2, RAI1, DHCR7, ATIC, GNE
Specificity
5 %
Genes
4 %
Invitae MED12-Related Disorders Test.

By Invitae in United States.

MED12
Specificity
100 %
Genes
4 %
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
7 %
Genes
4 %
Macrocephaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLI3, EZH2, NFIX, UPF3B, MED12, CUL4B, PHF6, GPC3, PTCH1, NSD1, PTEN
Specificity
19 %
Genes
7 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

ADAMTS17, VCAN, SMAD6, ADAMTS10, ADAMTSL4, ABL1, BGN, MAT2A, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, UPF3B, MED12, COL11A2 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
7 %
Macrocephaly / Overgrowth Syndrome Panel.

By Blueprint Genetics in Finland.

EED, DIS3L2, MPDZ, CCND2, HEPACAM, KPTN, AKT1, AKT3, PIK3R2, DHCR24, PIK3CA, KIF7, GPSM2, GLI3, RNF135, EZH2, NFIX, DNMT3A, BRWD3, UPF3B , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
10 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
4 %
Melanoma Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

KMT2C, ROS1, RAC1, ERBB4, ERBB2, CCND1, PDGFRB, AKT1, GNA11, PDGFRA, EGFR, GNAQ, PIK3CA, BAP1, KIT, TERT, MTOR, CTNNB1, MED12, KMT2D , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
4 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PBRM1, CDKN1A, KMT2C, RXRA, ERBB2, PIK3R1, AKT1, AKT3, FBXW7, STAG2, EGFR, AKT2, PIK3CA, BAP1, ERBB3, TERT, KDM6A, MTOR, MED12, ERCC2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
4 %
Gynecologic Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
4 %
Lujan-Fryns Syndrome, Sequencing MED12 Gene.

By Reference Laboratory Genetics in Spain.

MED12
Specificity
100 %
Genes
4 %
Opitz-Kaveggia Syndrome , Panel Massive Sequencing (NGS) CASK, FLNA, MED12 Genes.

By Reference Laboratory Genetics in Spain.

MED12, CASK, FLNA
Specificity
34 %
Genes
4 %
UPF3B.

By Institute for Human Genetics University Clinic Freiburg in Germany.

UPF3B
Specificity
100 %
Genes
4 %
UPF3B gene sequence.

By Ambry Genetics in United States.

UPF3B
Specificity
100 %
Genes
4 %
Mental retardation, x-linked, syndromic type 14.

By Centogene AG - the Rare Disease Company in Germany.

UPF3B
Specificity
100 %
Genes
4 %
XLMR 14, Syndromic: UPF3B Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UPF3B
Specificity
100 %
Genes
4 %
XLMR 14, Syndromic: UPF3B Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UPF3B
Specificity
100 %
Genes
4 %
UPF3B.

By Fulgent Genetics Fulgent Genetics in United States.

UPF3B
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 14 (sequence analysis of UPF3B gene).

By CGC Genetics in Portugal.

UPF3B
Specificity
100 %
Genes
4 %
Intellectual Disability (Syndromic and Non-Syndromic) via the UPF3B Gene.

By PreventionGenetics PreventionGenetics in United States.

UPF3B
Specificity
100 %
Genes
4 %
USP9X.

By Fulgent Genetics Fulgent Genetics in United States.

USP9X
Specificity
100 %
Genes
4 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

ARMC9, TRAF3IP1, DYNC2LI1, KIAA0753, MAPKBP1, IFT81, DDX59, HYLS1, CRB2, WDR60, NEK1, CCNQ, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
4 %
Mental retardation, X-linked type 99.

By Centogene AG - the Rare Disease Company in Germany.

USP9X
Specificity
100 %
Genes
4 %
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

FCGR2A, MAT1A, TCN1, HCFC1, ABCD4, CBS, SUCLG1, MUT, MMAA, MMAB, MCEE, GIF, CUBN, TCN2, LMBRD1, MMADHC, PCCA, PCCB, SUCLA2, ACSF3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
4 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MAT1A, SLC46A1, TCN1, CD320, HCFC1, FOLR1, GNMT, AHCY, ABCD4, CBS, SUCLG1, MLYCD, MUT, MMAA, MMAB, MCEE, GIF, CUBN, TCN2, LMBRD1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
4 %
Hyperammonemia and Urea Cycle Disorder Panel.

By Blueprint Genetics in Finland.

GLUL, UMPS, NBAS, HCFC1, SLC7A7, ASL, SLC25A20, SLC22A5, ASS1, ETFDH, ETFA, ETFB, NAGS, SLC25A15, IVD, SUCLG1, DBT, MUT, MMAA, MMAB , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
4 %
Methylmalonic acidemia: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CD320, HCFC1, ABCD4, MUT, MMAA, MMAB, TCN2, LMBRD1, MMADHC, ACSF3, MMACHC
Specificity
10 %
Genes
4 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SLC5A5, DUOX2, PAX8, HADH, PCBD1, MAT1A, CD320, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
4 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TG, TPO, SLC5A5, DUOX2, THRA, TSHB, PAX8, HADH, PCBD1, MAT1A, CD320, THRB, HCFC1, GJB3, CYP21A2, GCH1, MCOLN1, HBA2, G6PD, HBA1 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
4 %
X-linked mental retardation with methylmalonic acidemia and homocysteinemia, cblX type: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HCFC1
Specificity
100 %
Genes
4 %
Methylmalonic Aciduria and Homocystinuria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CD320, HCFC1, ABCD4, TCN2, LMBRD1, MMADHC, MMACHC
Specificity
15 %
Genes
4 %
Hyperammonemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HCFC1, SLC7A7, ASL, SLC25A20, SLC22A5, ASS1, ETFDH, ETFA, ETFB, NAGS, SLC25A15, IVD, MUT, MMAA, MMAB, CPT1A, OAT, MMADHC, OTC, HMGCS2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
4 %
HCFC1-Related Disorders via the HCFC1 Gene.

By PreventionGenetics PreventionGenetics in United States.

HCFC1
Specificity
100 %
Genes
4 %
Methylmalonic acidemia and homocysteinemia, cblX type (HCFC1).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

HCFC1
Specificity
100 %
Genes
4 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

PPM1K, FTCD, SERAC1, GSS, HADH, PCBD1, MAT1A, CD320, HCFC1, GCH1, G6PD, IDUA, GLA, CFTR, HPD, GNMT, AHCY, ABCD4, ASL, SLC25A20 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
4 %
Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel.

By Invitae in United States.

TCN1, CD320, HCFC1, ABCD4, GIF, CUBN, TCN2, LMBRD1, MMADHC, AMN, MMACHC
Specificity
10 %
Genes
4 %
HCFC1.

By Fulgent Genetics Fulgent Genetics in United States.

HCFC1
Specificity
100 %
Genes
4 %
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel.

By Blueprint Genetics in Finland.

ADK, FLAD1, CTH, UMPS, PEPD, CLPB, SERAC1, SLC25A1, CD320, HCFC1, GNMT, SUGCT, AHCY, ABCD4, GCDH, ETFDH, ETFA, ETFB, CBS, L2HGDH , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
4 %
METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA.

By Laboratorio de Genetica Clinica SL in Spain.

HCFC1, ABCD4, LMBRD1, MMADHC, MMACHC
Specificity
20 %
Genes
4 %
METHYLMALONIC ACIDEMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CD320, HCFC1, ABCD4, SUCLG1, MLYCD, MUT, MMAA, MMAB, MCEE, LMBRD1, MMADHC, SUCLA2, ACSF3, MMACHC
Specificity
8 %
Genes
4 %
CNKSR2.

By Fulgent Genetics Fulgent Genetics in United States.

CNKSR2
Specificity
100 %
Genes
4 %
X-Linked Mental Retardation Type 72 (RAB39B).

By Center for Human Genetics, Inc in United States.

RAB39B
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 72.

By Centogene AG - the Rare Disease Company in Germany.

RAB39B
Specificity
100 %
Genes
4 %
Parkinson all Panel.

By CeGaT GmbH in Germany.

TENM4, VPS13C, ASNA1, RAB29, PRKAR1B, CHCHD2, DNAJC13, PODXL, PDE8B, EIF4G1, SLC30A10, DNAJC6, PRKRA, VPS35, SLC6A3, FBXO7, PDE10A, FTL, C19orf12, TAF1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
4 %
Atypical Parkinson syndrome Panel.

By CeGaT GmbH in Germany.

PDE8B, SLC30A10, DNAJC6, FBXO7, FTL, RAB39B, ATP6AP2, ATP13A2, SYNJ1, ATP1A3, DCTN1, GCH1, ATXN3, ATXN2, C9orf72, MAPT, SPG11, ZFYVE26, PLA2G6, TH , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
4 %
XLMR 72: RAB39B Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RAB39B
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 72 (sequence analysis of RAB39B gene).

By CGC Genetics in Portugal.

RAB39B
Specificity
100 %
Genes
4 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DNAJC6, VPS35, SLC6A3, FBXO7, TAF1, RAB39B, ATP13A2, SYNJ1, SNCA, LRRK2, GCH1, MAPT, PLA2G6, GBA, PRKN, PINK1, PARK7
Specificity
6 %
Genes
4 %
XLMR 72: RAB39B Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RAB39B
Specificity
100 %
Genes
4 %
RAB39B.

By Fulgent Genetics Fulgent Genetics in United States.

RAB39B
Specificity
100 %
Genes
4 %
X-Linked Mental Retardation Types 21/34 (IL1RAPL1).

By Center for Human Genetics, Inc in United States.

IL1RAPL1
Specificity
100 %
Genes
4 %
Single gene testing IL1RAPL1.

By CeGaT GmbH in Germany.

IL1RAPL1
Specificity
100 %
Genes
4 %
XLMR 21: IL1RAPL1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL1RAPL1
Specificity
100 %
Genes
4 %
IL1RAPL1.

By Fulgent Genetics Fulgent Genetics in United States.

IL1RAPL1
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 21 (sequence analysis of IL1RAPL1 gene).

By CGC Genetics in Portugal.

IL1RAPL1
Specificity
100 %
Genes
4 %
X-linked Intellectual Disability via the IL1RAPL1 Gene.

By PreventionGenetics PreventionGenetics in United States.

IL1RAPL1
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 21.

By Centogene AG - the Rare Disease Company in Germany.

IL1RAPL1
Specificity
100 %
Genes
4 %
XLMR 21: IL1RAPL1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL1RAPL1
Specificity
100 %
Genes
4 %
SYP-Related X-Linked Mental Retardation: SYP Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SYP
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 96 (sequence analysis of SYP gene).

By CGC Genetics in Portugal.

SYP
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 96.

By Centogene AG - the Rare Disease Company in Germany.

SYP
Specificity
100 %
Genes
4 %
SYP-Related X-Linked Mental Retardation: SYP Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SYP
Specificity
100 %
Genes
4 %
SYP.

By Fulgent Genetics Fulgent Genetics in United States.

SYP
Specificity
100 %
Genes
4 %
MID2.

By Fulgent Genetics Fulgent Genetics in United States.

MID2
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 101.

By Centogene AG - the Rare Disease Company in Germany.

MID2
Specificity
100 %
Genes
4 %
X-Linked Mental Retardation 89.

By Center for Human Genetics, Inc in United States.

ZNF41
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 89.

By Centogene AG - the Rare Disease Company in Germany.

ZNF41
Specificity
100 %
Genes
4 %
XLMR 89: ZNF41 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF41
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 89 (sequence analysis of ZNF41 gene).

By CGC Genetics in Portugal.

ZNF41
Specificity
100 %
Genes
4 %
XLMR 89: ZNF41 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF41
Specificity
100 %
Genes
4 %
ZNF41.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF41
Specificity
100 %
Genes
4 %
X-linked mental retardation 58.

By Center for Human Genetics, Inc in United States.

TSPAN7
Specificity
100 %
Genes
4 %
XLMR 58: TSPAN7 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TSPAN7
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 58 (sequence analysis of TSPAN7 gene).

By CGC Genetics in Portugal.

TSPAN7
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 58.

By Centogene AG - the Rare Disease Company in Germany.

TSPAN7
Specificity
100 %
Genes
4 %
XLMR 58: TSPAN7 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TSPAN7
Specificity
100 %
Genes
4 %
TSPAN7.

By Fulgent Genetics Fulgent Genetics in United States.

TSPAN7
Specificity
100 %
Genes
4 %
X-linked mental retardation 30.

By Center for Human Genetics, Inc in United States.

PAK3
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 30 (sequence analysis of PAK3 gene).

By CGC Genetics in Portugal.

PAK3
Specificity
100 %
Genes
4 %
XLMR 30: PAK3 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAK3
Specificity
100 %
Genes
4 %
XLMR 30: PAK3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PAK3
Specificity
100 %
Genes
4 %
PAK3.

By Fulgent Genetics Fulgent Genetics in United States.

PAK3
Specificity
100 %
Genes
4 %
PAK3 gene sequence.

By Ambry Genetics in United States.

PAK3
Specificity
100 %
Genes
4 %
Intellectual Disability via the PAK3 Gene.

By PreventionGenetics PreventionGenetics in United States.

PAK3
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 30.

By Centogene AG - the Rare Disease Company in Germany.

PAK3
Specificity
100 %
Genes
4 %
X-linked non-specific intellectual disability (deletion/duplication analysis on FRMPD4 gene).

By CGC Genetics in Portugal.

FRMPD4
Specificity
100 %
Genes
4 %
X-linked non-specific intellectual disability (deletion/duplication analysis on FRMPD4 gene).

By CGC Genetics in Portugal.

FRMPD4
Specificity
100 %
Genes
4 %
FRMPD4.

By Fulgent Genetics Fulgent Genetics in United States.

FRMPD4
Specificity
100 %
Genes
4 %
FTSJ1-related Intellectual Disability: FTSJ1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FTSJ1
Specificity
100 %
Genes
4 %
FTSJ1-Related Intellectual Disability: FTSJ1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FTSJ1
Specificity
100 %
Genes
4 %
X-linked mental retardation 9.

By Center for Human Genetics, Inc in United States.

FTSJ1
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 9 (sequence analysis of FTSJ1 gene).

By CGC Genetics in Portugal.

FTSJ1
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 44.

By Centogene AG - the Rare Disease Company in Germany.

FTSJ1
Specificity
100 %
Genes
4 %
FTSJ1.

By Fulgent Genetics Fulgent Genetics in United States.

FTSJ1
Specificity
100 %
Genes
4 %
RLIM.

By Fulgent Genetics Fulgent Genetics in United States.

RLIM
Specificity
100 %
Genes
4 %
USP27X.

By Fulgent Genetics Fulgent Genetics in United States.

USP27X
Specificity
100 %
Genes
4 %
X-Linked Mental Retardation 88.

By Center for Human Genetics, Inc in United States.

AGTR2
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 88 (sequence analysis of AGTR2 gene).

By CGC Genetics in Portugal.

AGTR2
Specificity
100 %
Genes
4 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
4 %
XLMR 88: AGTR2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGTR2
Specificity
100 %
Genes
4 %
AGTR2.

By Fulgent Genetics Fulgent Genetics in United States.

AGTR2
Specificity
100 %
Genes
4 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
4 %
Mental retardation, X-linked type 88.

By Centogene AG - the Rare Disease Company in Germany.

AGTR2
Specificity
100 %
Genes
4 %
XLMR 88: AGTR2 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AGTR2
Specificity
100 %
Genes
4 %
Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

ADRA1A, CALCA, GRK4, ADD1, ADRB1, NOS2, STK39, AGTR1, ADRB2, ECE1, AGT, NOS3, REN, NPPA, NR3C2, ACE, GNB3, NEDD4L, AGTR2, CLCNKA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
4 %
Autism susceptibility, X-linked type 4.

By Centogene AG - the Rare Disease Company in Germany.

PTCHD1
Specificity
100 %
Genes
4 %
XLID, PTCHD1-Related: PTCHD1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTCHD1
Specificity
100 %
Genes
4 %
XLID, PTCHD1-Related: PTCHD1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTCHD1
Specificity
100 %
Genes
4 %
PTCHD1.

By Fulgent Genetics Fulgent Genetics in United States.

PTCHD1
Specificity
100 %
Genes
4 %
Autism, susceptibility to, X-linked 4 (PTCHD1).

By Center for Human Genetics, Inc in United States.

PTCHD1
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 45 (sequence analysis of ZNF81 gene).

By CGC Genetics in Portugal.

ZNF81
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 45.

By Centogene AG - the Rare Disease Company in Germany.

ZNF81
Specificity
100 %
Genes
4 %
XLMR 45: ZNF81 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF81
Specificity
100 %
Genes
4 %
ZNF81.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF81
Specificity
100 %
Genes
4 %
XLMR 45: ZNF81 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF81
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 46.

By Centogene AG - the Rare Disease Company in Germany.

ARHGEF6
Specificity
100 %
Genes
4 %
XLMR 46: ARHGEF6 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ARHGEF6
Specificity
100 %
Genes
4 %
X-linked mental retardation 46.

By Center for Human Genetics, Inc in United States.

ARHGEF6
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 46 (sequence analysis of ARHGEF6 gene).

By CGC Genetics in Portugal.

ARHGEF6
Specificity
100 %
Genes
4 %
XLMR 46: ARHGEF6 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ARHGEF6
Specificity
100 %
Genes
4 %
ARHGEF6.

By Fulgent Genetics Fulgent Genetics in United States.

ARHGEF6
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 97 (sequence analysis of ZNF711 gene).

By CGC Genetics in Portugal.

ZNF711
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 97.

By Centogene AG - the Rare Disease Company in Germany.

ZNF711
Specificity
100 %
Genes
4 %
ZNF711-Related X-Linked Mental Retardation: ZNF711 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF711
Specificity
100 %
Genes
4 %
ZNF711-Related X-Linked Mental Retardation: ZNF711 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF711
Specificity
100 %
Genes
4 %
ZNF711.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF711
Specificity
100 %
Genes
4 %
GDI1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

GDI1
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 41 (sequence analysis of GDI1 gene).

By CGC Genetics in Portugal.

GDI1
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 41.

By Centogene AG - the Rare Disease Company in Germany.

GDI1
Specificity
100 %
Genes
4 %
GDI1 Gene Sequencing.

By Michigan Medical Genetics Laboratories University of Michigan in United States.

GDI1
Specificity
100 %
Genes
4 %
XLMR 41: GDI1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDI1
Specificity
100 %
Genes
4 %
XLMR 41: GDI1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDI1
Specificity
100 %
Genes
4 %
X-Linked Mental Retardation 41.

By Center for Human Genetics, Inc in United States.

GDI1
Specificity
100 %
Genes
4 %
GDI1.

By Fulgent Genetics Fulgent Genetics in United States.

GDI1
Specificity
100 %
Genes
4 %
DLG3 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

DLG3
Specificity
100 %
Genes
4 %
Intellectual Disability, DLG3-related: DLG3 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DLG3
Specificity
100 %
Genes
4 %
Intellectual Disability, DLG3-related: DLG3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

DLG3
Specificity
100 %
Genes
4 %
DLG3.

By Fulgent Genetics Fulgent Genetics in United States.

DLG3
Specificity
100 %
Genes
4 %
X-Linked mental retardation 90.

By Center for Human Genetics, Inc in United States.

DLG3
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 90 (sequence analysis of DLG3 gene).

By CGC Genetics in Portugal.

DLG3
Specificity
100 %
Genes
4 %
X-linked Intellectual Disability via the DLG3 Gene.

By PreventionGenetics PreventionGenetics in United States.

DLG3
Specificity
100 %
Genes
4 %
Mental retardation, X-linked type 90.

By Centogene AG - the Rare Disease Company in Germany.

DLG3
Specificity
100 %
Genes
4 %

Alternate names

X-linked Non-syndromic Intellectual Disability Is also known as x-linked non-specific intellectual disability.



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