Hirschsprung Disease, Susceptibility To, 1; Hscr1

Description

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung DiseaseSeveral additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (OMIM ) is associated with variation in the EDNRB gene (OMIM ) on 13q22; HSCR3 (OMIM ) is associated with variation in the GDNF gene (OMIM ) on 5p13; HSCR4 (OMIM ) is associated with variation in the EDN3 gene (OMIM ) on 20q13; HSCR5 (OMIM ) maps to 9q31; HSCR6 (OMIM ) maps to 3p21; HSCR7 (OMIM ) maps to 19q12; HSCR8 (OMIM ) maps to 16q23; and HSCR9 (OMIM ) maps to 4q31-q32.HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (OMIM ), Mowat-Wilson syndrome (OMIM ), Goldberg-Shprintzen syndrome (OMIM ), and congenital central hypoventilation syndrome (CCHS ).Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to Hirschsprung Disease, Susceptibility To, 1; Hscr1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Micrognathia
  • Ptosis
  • Milia
And another 27 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hirschsprung Disease, Susceptibility To, 1; Hscr1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DENND3.

By Fulgent Genetics Fulgent Genetics in United States.

DENND3
Specificity
100 %
Genes
12 %
NUP98.

By Fulgent Genetics Fulgent Genetics in United States.

NUP98
Specificity
100 %
Genes
12 %
Onco microarray for MDS/AML.

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

SET, ELL, GAS6, AFF1, ACSL6, ARHGAP26, AFDN, MLLT10, MRTFA, NUP98, ELF4, ERG, FOXO4, MYB, RBM15, EGR1, MECOM, RPN1, MLLT1, MLLT3 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
12 %
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
34 %
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
34 %
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
34 %
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
67 %
Ashkenazic Genetic Disease Panel.

By Baylor Miraca Genetics Laboratories in United States.

CFTR, ELP1, ASPA, HEXA
Specificity
25 %
Genes
12 %
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories in United States.

GBA, FANCC, ELP1, ASPA, SMPD1
Specificity
20 %
Genes
12 %
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis).

By Baylor Miraca Genetics Laboratories in United States.

GBA, FANCC, ELP1, ASPA, SMPD1
Specificity
20 %
Genes
12 %
Familial Dysautonomia Ashkenazic Mutation Panel.

By Baylor Miraca Genetics Laboratories in United States.

ELP1
Specificity
100 %
Genes
12 %
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
1 %
Genes
12 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
12 %
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
12 %
GeneAware ACMG/ACOG Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

MCOLN1, HBA2, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1, HBB
Specificity
8 %
Genes
12 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
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
12 %
Familial dysautonomia.

By Center for Human Genetics, Inc in United States.

ELP1
Specificity
100 %
Genes
12 %
Ashkenazi Jewish Carrier Screening Panel.

By Center for Human Genetics, Inc in United States.

F11, TMEM216, ABCC8, MCOLN1, NEB, FKTN, BLM, GBA, FANCC, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB
Specificity
6 %
Genes
12 %
Test for Familial Dysautonomia.

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

ELP1
Specificity
100 %
Genes
12 %
Familial Dysautonomia, DNA Analysis.

By Molecular Diagnostic Laboratory LabCorp in United States.

ELP1
Specificity
100 %
Genes
12 %
Familial Dysautonomia.

By Molecular Genetics Rabin Medical Center in Israel.

ELP1
Specificity
100 %
Genes
12 %
Ashkenazi Jewish Diseases, 16 Genes.

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

TMEM216, ABCC8, MCOLN1, NEB, BLM, FANCC, ELP1, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB
Specificity
8 %
Genes
12 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

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

HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...)

View the complete list with 58 more genes
Specificity
3 %
Genes
23 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

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

HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...)

View the complete list with 58 more genes
Specificity
3 %
Genes
23 %
Dysautonomia, Familial (IKBKAP), 2 Variants.

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

ELP1
Specificity
100 %
Genes
12 %
IKBKAP. Complete sequencing.

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

ELP1
Specificity
100 %
Genes
12 %
IKBKAP. Detection of the mutation c.2204 6T>C by sequencing.

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

ELP1
Specificity
100 %
Genes
12 %
Riley-Day Syndrome (Familial Dysautonomia)(sequence analysis of IKBKAP gene).

By CGC Genetics in Portugal.

ELP1
Specificity
100 %
Genes
12 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, DST, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2 , (...)

View the complete list with 54 more genes
Specificity
3 %
Genes
23 %
Familial Dysautonomia via ELP1/IKBKAP Gene - Full Gene Sequencing Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ELP1
Specificity
100 %
Genes
12 %
Familial Dysautonomia via the ELP1/IKBKAP Gene - Targeted Variants Analysis.

By PreventionGenetics PreventionGenetics in United States.

ELP1
Specificity
100 %
Genes
12 %
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRDM12, CLTCL1, ATL3, SCN11A, NGF, RETREG1, DST, CCT5, DNMT1, SCN9A, KIF1A, ATL1, SPTLC1, WNK1, NTRK1, RAB7A, ELP1, FLVCR1, SPTLC2, POLG
Specificity
5 %
Genes
12 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NGF, RETREG1, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, LAS1L , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
12 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
12 %
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
1 %
Genes
23 %
Familial Dysautonomia.

By Bioscientia GmbH Center for Human Genetics in Germany.

ELP1
Specificity
100 %
Genes
12 %
Ashkenazi panel (basic).

By Centogene AG - the Rare Disease Company in Germany.

MCOLN1, BLM, FANCC, ELP1, ASPA, HEXA
Specificity
17 %
Genes
12 %
Ashkenazi panel (advanced).

By Centogene AG - the Rare Disease Company in Germany.

ABCC8, MCOLN1, NEB, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, DLD, PCDH15, CLRN1, BCKDHB
Specificity
7 %
Genes
12 %
HSAN3.

By Centogene AG - the Rare Disease Company in Germany.

ELP1
Specificity
100 %
Genes
12 %
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
1 %
Genes
45 %
Familial Dysautonomia.

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

ELP1
Specificity
100 %
Genes
12 %
Familial dysautonomia.

By Medical Genetics Institute Shaare Zedek Medical Center in Israel.

ELP1
Specificity
100 %
Genes
12 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1 , (...)

View the complete list with 64 more genes
Specificity
3 %
Genes
23 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
Dysautonomia.

By Praxis fuer Humangenetik Wien in Austria.

ELP1
Specificity
100 %
Genes
12 %
Family Prep Screen.

By Counsyl in United States.

BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
12 %
Dysautonomia.

By MedGene in Slovakia.

ELP1
Specificity
100 %
Genes
12 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

FBXO38, ATL3, SCN11A, NGF, RETREG1, CHCHD10, SLC52A3, SLC52A2, DST, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
12 %
Invitae Hereditary Sensory and Autonomic Neuropathy Panel.

By Invitae in United States.

ATL3, SCN11A, NGF, RETREG1, DST, DNMT1, SCN9A, KIF1A, ATL1, SPTLC1, WNK1, NTRK1, RAB7A, ELP1, SPTLC2
Specificity
7 %
Genes
12 %
Invitae Familial Dysautonomia Test.

By Invitae in United States.

ELP1
Specificity
100 %
Genes
12 %
Dysautonomia, Familial: IKBKAP gene mutations analysis (c.2204+6T>C y p.Arg696Pro).

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

ELP1
Specificity
100 %
Genes
12 %
Dysautonomia, Familial: IKBKAP gene sequence analysis.

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

ELP1
Specificity
100 %
Genes
12 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
12 %
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
1 %
Genes
12 %
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1
Specificity
5 %
Genes
12 %
ACOG/ACMG Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCOLN1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1
Specificity
10 %
Genes
12 %
ACOG/ACMG Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCOLN1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1
Specificity
10 %
Genes
12 %
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, FKTN, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, FMR1
Specificity
5 %
Genes
12 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
12 %
Inheritest NGS, Society Guided Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

MCOLN1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, SMPD1, HBB, FMR1
Specificity
9 %
Genes
12 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

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

View the complete list with 18 more genes
Specificity
3 %
Genes
12 %
Familial Dysautonomia.

By Integrated Genetics Westborough Integrated Genetics in United States.

ELP1
Specificity
100 %
Genes
12 %
Ashkenazi Jewish Carrier Testing.

By Integrated Genetics Westborough Integrated Genetics in United States.

TMEM216, ABCC8, MCOLN1, NEB, FKTN, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, BCKDHA
Specificity
6 %
Genes
12 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
12 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NGF, RETREG1, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, ATL1, SPTLC1, WNK1, NTRK1, GJB1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
12 %
IKBKAP.

By Fulgent Genetics Fulgent Genetics in United States.

ELP1
Specificity
100 %
Genes
12 %
Familial Dysautonomia Mutation Analysis.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

ELP1
Specificity
100 %
Genes
12 %
Familial Dysautonomia Mutation Analysis (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

ELP1
Specificity
100 %
Genes
12 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
12 %
Familial dysautonomia.

By Bioarray in Spain.

ELP1
Specificity
100 %
Genes
12 %
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
12 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

TG, TPO, SLC5A5, DUOX2, TSHB, PAX8, HADH, PCBD1, MAT1A, GJB3, CYP21A2, GCH1, HBA2, G6PD, HBA1, NPC2, NPC1, IDUA, GLA, GJB6 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
12 %
Familial Dysautonomia , Sequencing IKBKAP Gene.

By Reference Laboratory Genetics in Spain.

ELP1
Specificity
100 %
Genes
12 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

SLC52A1, SLC52A3, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, ASAH1, IGHMBP2, DYNC1H1, SETX, SIGMAR1, ALS2, BSCL2, DES, INF2, UBA1, SMN2, GJB1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
12 %
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
12 %
planTrue ACOG & ACMG Screen.

By True Health Diagnostics in United States.

MCOLN1, HBA2, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, SMPD1, HBB
Specificity
8 %
Genes
12 %
planTrue Standard.

By True Health Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, HBA2, FKTN, HBA1, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
12 %
planTrue Jewish Screen.

By True Health Diagnostics in United States.

TMEM216, ABCC8, MCOLN1, NEB, SMN1, BLM, GBA, FANCC, CFTR, ELP1, ASPA, HEXB, HEXA, G6PC, SMPD1, DLD, PCDH15, CLRN1, BCKDHB
Specificity
6 %
Genes
12 %
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
12 %
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
12 %
Familial dysautonomia: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ELP1
Specificity
100 %
Genes
12 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
12 %
Syndromic Hirschsprung Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
23 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
12 %
NGS Hearing Loss Panel.

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

MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GJB3 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
12 %
Waardenburg syndrome, type 2e.

By Center for Human Genetics, Inc in United States.

SOX10
Specificity
100 %
Genes
12 %
Waardenburg syndrome, type 4c.

By Center for Human Genetics, Inc in United States.

SOX10
Specificity
100 %
Genes
12 %
Waardenburg Syndrome, Type 4 C - SOX10 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

SOX10
Specificity
100 %
Genes
12 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
12 %
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
12 %
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
12 %
OtoGenome Test for Hearing Loss (110 Genes).

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

CEP78, SLC52A3, SLC52A2, KITLG, MITF, CATSPER2, GPSM2, MT-RNR1, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
12 %
SOX10. Complete sequencing.

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

SOX10
Specificity
100 %
Genes
12 %
Waardenburg Seq + Del/Dup Analysis.

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

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
Waardenburg Del/Dup Panel.

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

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
Waardenburg Seq Analysis.

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

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
Audiome (hearing loss panel).

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

SLC52A3, SLC52A2, MITF, GPSM2, GRXCR2, SYNE4, OTOGL, CEACAM16, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, S1PR2, POU4F3, OTOA, MYH9, LHFPL5, LRTOMT , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
12 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
12 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

TMC2, MYO1A, MITF, GPSM2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, TRIOBP, TMIE, TFAP2A, TJP2, SLC26A5, SEMA3E, POU4F3, OTOA , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
12 %
Waardenburg syndrome type 4 (sequence analysis of SOX10 gene).

By CGC Genetics in Portugal.

SOX10
Specificity
100 %
Genes
12 %
Waardenburg syndrome (NGS panel of 7 genes).

By CGC Genetics in Portugal.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, TYR
Specificity
15 %
Genes
12 %
Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes).

By CGC Genetics in Portugal.

SOX10, EDNRB
Specificity
50 %
Genes
12 %
Waardenburg syndrome (NGS panel of 7 genes).

By CGC Genetics in Portugal.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, TYR
Specificity
15 %
Genes
12 %
Waardenburg syndrome (deletions/duplications analysis of SOX10 and EDNRB genes).

By CGC Genetics in Portugal.

SOX10, EDNRB
Specificity
50 %
Genes
12 %
Waardenburg Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
Kallmann Syndrome (KS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

IL17RD, SOX10, ANOS1, FGF8, PROK2, PROKR2, GNRHR, TACR3, FGFR1, CHD7
Specificity
10 %
Genes
12 %
Waardenburg Syndrome Types IIE and IVC via SOX10 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOX10
Specificity
100 %
Genes
12 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CCDC141, AXL, HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, FEZF1, NSMF, SEMA3A, IL17RD, LHX3, LHX4, SOX3, SEMA3E, SOX10 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
12 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
12 %
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
12 %
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
12 %
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
23 %
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
23 %
Hypopigmentation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3D1, SLC38A8, MLPH, RAB27A, MYO5A, KITLG, LYST, BLOC1S6, LRMDA, SLC24A5, MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, AP3B1, HPS3, HPS4, HPS5 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
12 %
Waardenburg syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, TYR
Specificity
15 %
Genes
12 %
Waardenburg syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, TYR
Specificity
15 %
Genes
12 %
Waardenburg syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, TYR
Specificity
15 %
Genes
12 %
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
1 %
Genes
23 %
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
12 %
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
1 %
Genes
23 %
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
1 %
Genes
23 %
Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease.

By Centogene AG - the Rare Disease Company in Germany.

SOX10
Specificity
100 %
Genes
12 %
Hirschsprung disease.

By Centogene AG - the Rare Disease Company in Germany.

SOX10
Specificity
100 %
Genes
12 %
Waardenburg syndrome, type 2E, with or without neurologic involvement.

By Centogene AG - the Rare Disease Company in Germany.

SOX10
Specificity
100 %
Genes
12 %
Waardenburg syndrome, type 4C.

By Centogene AG - the Rare Disease Company in Germany.

SOX10
Specificity
100 %
Genes
12 %
Waardenburg syndrome, Type 2E and Type 4C.

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

SOX10
Specificity
100 %
Genes
12 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

MITF, POLR1D, TFAP2A, SEMA3E, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1, KCNQ1, KCNE1, TCOF1, SLC19A2, SOX10, SNAI2, SIX5, EDNRB, PAX3, NLRP3 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
12 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

ADAM10, POFUT1, POGLUT1, ENPP1, HJV, HAMP, TFR2, EPG5, SLC40A1, KRT14, MLPH, RAB27A, MYO5A, KITLG, KIT, ADAR, LYST, MITF, SPRED1, SOX10 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
12 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

AIMP1, FAM126A, POLR3B, POLR3A, HEPACAM, EARS2, RNASET2, ADAR, TUBB4A, CLCN2, SOX10, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, FOLR1, NOTCH3, EIF2B4 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
12 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AIMP1, FAM126A, POLR3B, POLR3A, HEPACAM, EARS2, RNASET2, ADAR, TUBB4A, CLCN2, SOX10, GFAP, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, FOLR1, NOTCH3, EIF2B4 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
12 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

PRPH, ADD3, VPS54, KLC4, FLRT1, ARSI, ATP2B4, ARHGEF28, KANK1, HNRNPA1, HNRNPA2B1, AIMP1, FAM126A, STUB1, GRID2, SLC1A4, AMPD2, CCDC88C, ARL6IP1, IBA57 , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
12 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
12 %
Single gene testing SOX10.

By CeGaT GmbH in Germany.

SOX10
Specificity
100 %
Genes
12 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
12 %
Waardenburg Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

AIMP1, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, EARS2, CSF1R, RNASET2, ADAR, TUBB4A, CLCN2, SOX10, HTRA1, GFAP, TREX1, RNASEH2B, RNASEH2A, SAMHD1, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
12 %
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel.

By Molecular Vision Laboratory in United States.

SLC38A8, MLPH, RAB27A, MYO5A, KIT, LYST, BLOC1S6, LRMDA, SLC24A5, MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, AP3B1, HPS3, HPS4, HPS5, HPS6 , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
23 %
Waardenburg Syndrome panel.

By Molecular Vision Laboratory in United States.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3, RET
Specificity
29 %
Genes
23 %
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
2 %
Genes
23 %
Waardenburg, Syndrome.

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

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
Leukodistrophy.

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

AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
12 %
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
12 %
Waardenburg Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
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
1 %
Genes
23 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, MTAP, SPINK5, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
12 %
SOX10.

By Fulgent Genetics Fulgent Genetics in United States.

SOX10
Specificity
100 %
Genes
12 %
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
12 %
Hirschsprung Disease Panel.

By Blueprint Genetics in Finland.

CELSR3, NRG1, NRTN, BDNF, MITF, SOX10, EDNRB, PAX3, EDN3, ZEB2, KIF1BP, L1CAM, PHOX2B, RMRP, RET
Specificity
14 %
Genes
23 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
12 %
Waardenburg Syndrome Panel.

By Blueprint Genetics in Finland.

KIT, MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
15 %
Genes
12 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

SNORD118, MRPL44, LYRM7, DARS, AIMP1, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RNF216, RARS, SERAC1, PYCR2, IBA57, HEPACAM, EARS2, CSF1R, SCO1, MARS2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
12 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
23 %
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
1 %
Genes
12 %
Waardenburg syndrome, type 4C.

By Bioarray in Spain.

SOX10
Specificity
100 %
Genes
12 %
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
2 %
Genes
34 %
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
2 %
Genes
34 %
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
23 %
HIRSCHSPRUNG´S DISEASE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ECE1, GDNF, SEMA3A, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, RET
Specificity
23 %
Genes
23 %
HIRSCHSPRUNG´S DISEASE.

By Laboratorio de Genetica Clinica SL in Spain.

GDNF, SOX10, EDNRB, EDN3, RET
Specificity
40 %
Genes
23 %
WAARDENBURG SYNDROME TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

MITF, SOX10, SNAI2
Specificity
34 %
Genes
12 %
WAARDENBURG-SHAH SYNDROME, NEUROLOGICAL VARIANT (TYPE 4).

By Laboratorio de Genetica Clinica SL in Spain.

SOX10, EDNRB, EDN3
Specificity
34 %
Genes
12 %
Waardenburg Syndrome Type 4C , Sequencing SOX10 Gene.

By Reference Laboratory Genetics in Spain.

SOX10
Specificity
100 %
Genes
12 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
12 %
Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

MITF, SOX10, SNAI2, EDNRB, PAX3, EDN3
Specificity
17 %
Genes
12 %
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

IL17RD, SOX10, ANOS1, PROKR2, GNRHR, TACR3, FGFR1, CHD7
Specificity
13 %
Genes
12 %
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
8 %
Genes
12 %
GLI3-related Disorders.

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

GLI3
Specificity
100 %
Genes
12 %
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
1 %
Genes
12 %
Craniosynostosis.

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

IFT122, IL11RA, IFT43, MASP1, ASXL1, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
12 %
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
10 %
Genes
12 %
Anophthalmia/microphthalmia.

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

ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, ALX1, VSX2, FREM1, VAX1, RARB, GJA1, FOXE3, GDF6, GLI3, TFAP2A, COL4A1, PORCN, PAX2, SOX2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
12 %
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
5 %
Genes
12 %
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
2 %
Genes
12 %
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
5 %
Genes
12 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
12 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
12 %
GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication.

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

GLI3
Specificity
100 %
Genes
12 %
GLI3-related Disorders (GLI3) Deletion/Duplication.

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

GLI3
Specificity
100 %
Genes
12 %
GLI3-related disorders (GLI3) Sequencing.

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

GLI3
Specificity
100 %
Genes
12 %
Craniosynostosis.

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

TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, ASXL1, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
GLI3. Complete sequencing.

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

GLI3
Specificity
100 %
Genes
12 %
GLI3. MLPA testing.

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

GLI3
Specificity
100 %
Genes
12 %
Craniofacial Del/Dup Panel.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
Craniofacial Seq + Del/Dup Panel.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
Craniofacial Seq Analysis.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
12 %
Pallister-Hall Syndrome (deletion/duplication analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall Syndrome (sequence analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
12 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
12 %
Holoprosencephaly (NGS panel for 9 genes).

By CGC Genetics in Portugal.

GLI3, GLI2, CDON, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
12 %
Genes
12 %
Pallister-Hall syndrome (sequence analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall syndrome (sequence analysis of GLI3 gene).

By CGC Genetics in Portugal.

GLI3
Specificity
100 %
Genes
12 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DSTYK, CHD1L, HOXA4, HOXB6, CDC5L, GREB1L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, TBX18, FGF20, ITGA8, PBX1, ROBO2, AGT, SOX17, HPSE2, LIFR , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
23 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, DOCK6, ARHGAP31, HOXD13, SF3B4, LRP4, WNT7A, TBX15, ROR2, ESCO2 , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
23 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
23 %
GLI3-Related Disorders via GLI3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GLI3
Specificity
100 %
Genes
12 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Greig cephalopolysyndactyly syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Greig cephalopolysyndactyly syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Greig cephalopolysyndactyly syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Polydactyly, preaxial IV & postaxial, type A1 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Polydactyly, preaxial IV & postaxial, type A1 NGS Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Polydactyly, preaxial IV & postaxial, type A1 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

GLI3
Specificity
100 %
Genes
12 %
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
3 %
Genes
12 %
Greig Cephalopolysyndactyly Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall syndrome.

By Centogene AG - the Rare Disease Company in Germany.

GLI3
Specificity
100 %
Genes
12 %
Holoprosencephaly panel.

By Centogene AG - the Rare Disease Company in Germany.

GLI3, GLI2, CDON, ZIC2, TGIF1, SIX3, FGF8, PTCH1, SHH
Specificity
12 %
Genes
12 %
Greig cephalopolysyndactyly syndrome.

By Centogene AG - the Rare Disease Company in Germany.

GLI3
Specificity
100 %
Genes
12 %
Single gene testing GLI3.

By CeGaT GmbH in Germany.

GLI3
Specificity
100 %
Genes
12 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

WDR34, INPPL1, GDF5, TRIP11, SLC35D1, LIFR, FLNB, DLL3, FAM111A, RNU4ATAC, BMPER, ARSE, NEK1, WNT7A, DYNC2H1, TCTN3, IFT80, GNPAT, GLI3, SOX9 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
12 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

FGF16, LMBR1, NOG, FBLN1, IHH, BHLHA9, BMP2, WNT10B, GDF5, PTHLH, HOXD13, LRP4, WNT7A, ROR2, HOXA11, GJA1, BMPR1B, TP63, GLI3, TRPV4
Specificity
10 %
Genes
23 %
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
1 %
Genes
12 %
Invitae GLI3-Related Disorders Test.

By Invitae in United States.

GLI3
Specificity
100 %
Genes
12 %
Invitae Craniosynostosis Panel.

By Invitae in United States.

ERF, MEGF8, GLI3, TWIST1, MSX2, RAB23, FGFR1, FGFR2, FGFR3
Specificity
12 %
Genes
12 %
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
12 %
Pallister-Hall syndrome: GLI3 gene screening (exons 10-14).

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

GLI3
Specificity
100 %
Genes
12 %
Greig cephalopolysyndactyly syndrome: GLI3 gene sequence analysis.

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

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall syndrome: GLI3 gene sequence analysis.

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

GLI3
Specificity
100 %
Genes
12 %
Craniosysostosis.

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

FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
6 %
Genes
12 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
3 %
Genes
23 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, TBX3, HDAC4, GDF5, PTHLH, ARHGAP31, HOXD13, LRP4, WNT7A, TBX15, ROR2, ESCO2, MGP , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
23 %
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
10 %
Genes
12 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
23 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
3 %
Genes
23 %
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
1 %
Genes
12 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
23 %
GLI3.

By Fulgent Genetics Fulgent Genetics in United States.

GLI3
Specificity
100 %
Genes
12 %
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
1 %
Genes
12 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
23 %
Holoprosencephaly Panel.

By Blueprint Genetics in Finland.

GLI3, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
9 %
Genes
12 %
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
3 %
Genes
12 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics in Finland.

CLMP, TTC7A, PTF1A, RFX6, MYCN, EFTUD2, GLI3, FANCB, MID1, DHCR7, CHD7, FANCC, SOX2
Specificity
8 %
Genes
12 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
23 %
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
12 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
23 %
Pallister-Hall syndrome.

By Bioarray in Spain.

GLI3
Specificity
100 %
Genes
12 %
PALLISTER-HALL SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GLI3
Specificity
100 %
Genes
12 %
POSTAXIAL POLYDACTYLY TYPES A/B.

By Laboratorio de Genetica Clinica SL in Spain.

GLI3
Specificity
100 %
Genes
12 %
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall Syndrome , Sequencing GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
12 %
Postaxial Polidactilia Type A1 and B , Sequencing GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
12 %
Greig Syndrome , Sequencing GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall Syndrome , Sequencing Exons (10-14) GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
12 %
Pallister-Hall Syndrome , Deletions-Duplications (MLPA) GLI3 Gene.

By Reference Laboratory Genetics in Spain.

GLI3
Specificity
100 %
Genes
12 %
Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

EFNB1, GLI3, TWIST1, MSX2, POR, RAB23, FGFR1, FGFR2, FGFR3
Specificity
12 %
Genes
12 %
Greig cephalopolysyndactyly syndrome.

By Labor Dr. Wisplinghoff in Germany.

GLI3
Specificity
100 %
Genes
12 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RAD51B, EHBP1, POU6F2, EPHB2, MSMB, ASCC1, MSR1, XRCC3, PTCH2, PALLD, MLH3, DDB2, DIS3L2, MTAP, POLH, UROD, TMC8, TMC6, PDE11A, XPC , (...)

View the complete list with 123 more genes
Specificity
2 %
Genes
23 %
Pallister-Hall Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GLI3
Specificity
100 %
Genes
12 %
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
12 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

By Baylor Miraca Genetics Laboratories in United States.

MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
12 %
Genes
12 %
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

CDC73, PRKAR1A, MAX, SDHD, TSHR, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
12 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

RAD51D, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
12 %
MEN2 (RET) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

RET
Specificity
100 %
Genes
12 %
Pheochromocytoma Evaluation.

By Athena Diagnostics Inc in United States.

SDHB, RET, VHL
Specificity
34 %
Genes
12 %
Multiple endocrine neoplasia, type 2.

By Center for Human Genetics, Inc in United States.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

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

RET
Specificity
100 %
Genes
12 %
Hirschprungs Disease (RET mutations).

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

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia.

By Molecular Pathology Laboratory Ohio State University in United States.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

By DNA Diagnostic Laboratory Henry Ford Hospital in United States.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: MEN2A, Sequencing.

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

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: MEN2B Sequencing.

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

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: FMTC Sequencing.

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

RET
Specificity
100 %
Genes
12 %
Inherited Cancer Panel.

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

CDKN1B, BAP1, XRCC2, MITF, NF1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, CDKN2A, CDK4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
12 %
VistaSeq Endrocrine Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

NF1, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, TP53, PTEN, VHL
Specificity
8 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

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

RET
Specificity
100 %
Genes
12 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DDX41, SAMD9L, SAMD9, POLE, ETV6, IKZF1, POLD1, SRP72, BAP1, TERT, TERC, NF1, RTEL1, CEBPA, PAX5, GATA2, BRIP1, SMAD4, BMPR1A, MAX , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
12 %
Hereditary Pheochromocytoma and Paraganglioma Panel.

By Genetic Services Laboratory University of Chicago in United States.

EGLN1, EPAS1, NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
8 %
Genes
12 %
Hyperparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AP2S1, GNA11, CDKN1B, PTH1R, CASR, CDC73, MEN1, RET
Specificity
13 %
Genes
12 %
Hyperparathyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

AP2S1, GNA11, CDKN1B, PTH1R, CASR, CDC73, MEN1, RET
Specificity
13 %
Genes
12 %
Hereditary Thyroid Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

DICER1, SRGAP1, WRN, AKT1, PIK3CA, PRKAR1A, CHEK2, SDHD, SDHB, RET, TP53, PTEN, APC
Specificity
8 %
Genes
12 %
Multiple Endorine Neoplasia Type 2.

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

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

By Service de Génétique Gustave Roussy in France.

RET
Specificity
100 %
Genes
12 %
Multiple Endoctine Neoplasia Type 2 (RET).

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

RET
Specificity
100 %
Genes
12 %
Central Hypoventilation Syndrome Panel (6 Genes).

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

GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
12 %
PulmoGene Panel (64 Genes).

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

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
12 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

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

CDKN1B, BAP1, SMARCB1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
12 %
Multiple Endocrine Neoplasia (MEN2), RET Gene Mutations by Sequencing.

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

RET
Specificity
100 %
Genes
12 %
RET Select Exons Sequencing (HSCR).

By GeneDx in United States.

RET
Specificity
100 %
Genes
12 %
RET Remaining Exons Sequencing (HSCR).

By GeneDx in United States.

RET
Specificity
100 %
Genes
12 %
RET Remaining Exons Sequencing (MEN2B).

By GeneDx in United States.

RET
Specificity
100 %
Genes
12 %
RET Select Exons Sequencing (MEN2B).

By GeneDx in United States.

RET
Specificity
100 %
Genes
12 %
PGL/PCC (Paraganglioma/Pheochromocytoma) Panel.

By GeneDx in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
12 %
Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17.

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

NF1, CDC73, PRKAR1A, MAX, SDHD, TSC1, TSC2, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
6 %
Genes
12 %
CancerNext-Expanded.

By Ambry Genetics in United States.

HOXB13, GALNT12, DICER1, POT1, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C, PRKAR1A, BRIP1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
12 %
CustomNext: Cancer.

By Ambry Genetics in United States.

NTHL1, HOXB13, GALNT12, DICER1, POT1, AIP, POLE, GREM1, POLD1, CDKN1B, BAP1, XRCC2, SMARCB1, SMARCA4, SMARCE1, MITF, NF1, RAD51D, BARD1, RAD51C , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
12 %
PGLNext.

By Ambry Genetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
12 %
RET gene sequence.

By Ambry Genetics in United States.

RET
Specificity
100 %
Genes
12 %
RET. Sequencing of the exons 5, 8, 13, 14 and 16.

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

RET
Specificity
100 %
Genes
12 %
RET. Complete sequencing.

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

RET
Specificity
100 %
Genes
12 %
RET. Sequencing of the exons 10 and 11.

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

RET
Specificity
100 %
Genes
12 %
RET. Sequencing of the exons 10 and 11.

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

RET
Specificity
100 %
Genes
12 %
RET. Complete sequencing.

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

RET
Specificity
100 %
Genes
12 %
RET. Sequencing of the exons 13, 14, 15 and 16.

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

RET
Specificity
100 %
Genes
12 %
RET. Complete sequencing.

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

RET
Specificity
100 %
Genes
12 %
RET. Detection of the mutations p.Met918Thr and p.Ala883Phe by sequencing.

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

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia MEN2A - RET Proto-oncogene Full Sequence Analysis.

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

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia MEN2A - RET Proto-oncogene Known Point Mutation Analysis.

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

RET
Specificity
100 %
Genes
12 %
Hereditary Paraganglioma/Pheochromocytoma Panel.

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

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
12 %
Hereditary Endocrine Cancer Panel.

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

CDKN1B, CDC73, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
12 %
CHOP Comprehensive Hereditary Cancer Panel.

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

DDB2, DIS3L2, MTAP, CEBPE, POLH, ARID5B, HMBS, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, DDX41, COL7A1, G6PC3, ITK, ELANE, EXT1, EXT2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
12 %
RET-Related Hirschsprung Disease.

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
RET-Related Renal Adysplasia.

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
RET-Related Pheochromocytoma.

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Hirschsprung Disease (exons 2, 7, 15 and 19 of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Hirschsprung Disease (sequence analysis of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Medullary thyroid carcinoma (sequence analysis of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia type 2A (frequent mutations of RET gene, exons 2, 10, 11 and 13 to 16).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia type 2A (frequent mutations of RET gene, exons 5, 8, 10, 11, 13, 14, 15 and 16).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Familial medullary thyroid carcinoma (frequent mutations on RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Pheochromocytoma (frequent mutations on RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

EXT1, EXT2, FANCA, FANCB, NF1, RAD51C, CDC73, PRKAR1A, CEBPA, BRIP1, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
12 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

CEP57, DDB2, DIS3L2, XPC, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
12 %
Pheochromocytoma (sequence analysis of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia type 2B (sequence analysis of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia type 2A (sequence analysis of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
7 %
Genes
12 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

OSMR, IL31RA, LYZ, CST3, B2M, APOA2, TACSTD2, F10, TNFRSF1A, FGA, APOA1, PRNP, MEFV, NLRP3, GSN, RET, TGFBI, APP, TTR
Specificity
6 %
Genes
12 %
Multiple endocrine neoplasia type 2A (sequence analysis of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

OSMR, IL31RA, LYZ, CST3, B2M, APOA2, TACSTD2, F10, TNFRSF1A, FGA, APOA1, PRNP, MEFV, NLRP3, GSN, RET, TGFBI, APP, TTR
Specificity
6 %
Genes
12 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics in Portugal.

GDNF, EGLN1, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
7 %
Genes
12 %
Multiple Endocrine Neoplasia type 2B (sequence analysis of RET gene).

By CGC Genetics in Portugal.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia 2.

By Laboratory of Genetics HUSLAB in Finland.

RET
Specificity
100 %
Genes
12 %
RET-Related Pheochromocytoma.

By Exeter Molecular Genetics Laboratory in United Kingdom.

RET
Specificity
100 %
Genes
12 %
RET - Related Familial medullary thyroid carcinoma.

By Exeter Molecular Genetics Laboratory in United Kingdom.

RET
Specificity
100 %
Genes
12 %
RET-Related Hirschsprung Disease.

By Exeter Molecular Genetics Laboratory in United Kingdom.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2B.

By Exeter Molecular Genetics Laboratory in United Kingdom.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2A.

By Exeter Molecular Genetics Laboratory in United Kingdom.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics in Cyprus.

RET
Specificity
100 %
Genes
12 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, RET, TP53 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 2.

By PreventionGenetics PreventionGenetics in United States.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2A (MEN2A) and Familial Medullary Thyroid Carcinoma (FMTC) via the RET Gene - Tier 1.

By PreventionGenetics PreventionGenetics in United States.

RET
Specificity
100 %
Genes
12 %
Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NRTN, ECE1, GDNF, EDNRB, EDN3, RET
Specificity
17 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2B (MEN2B) via the RET Gene, Exons 15-16.

By PreventionGenetics PreventionGenetics in United States.

RET
Specificity
100 %
Genes
12 %
Hereditary Paraganglioma-Pheochromocytoma Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
9 %
Genes
12 %
Hirschsprung Disease (HSCR) via the RET Gene.

By PreventionGenetics PreventionGenetics in United States.

RET
Specificity
100 %
Genes
12 %
Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BMP2, ASCL1, BDNF, EDN3, PHOX2B, PHOX2A, RET
Specificity
15 %
Genes
12 %
Endocrine tumours.

By Institute of Human Genetics Cologne University in Germany.

CDKN1B, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
12 %
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
12 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

RAC1, RICTOR, EIF1AX, HOXD8, ERBB4, CDKN2B, ERBB2, DDB2, CCND1, XPC, KDR, ERCC5, PDGFRB, CDK6, AKT1, GNA11, PDGFRA, SF3B1, EGFR, GNAQ , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

By MGZ Medical Genetics Center in Germany.

RET
Specificity
100 %
Genes
12 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
12 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

RNF43, CEP57, DDB2, DIS3L2, XPC, NTHL1, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, AXIN2, POLE, EGFR, GREM1 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
12 %
Thyroid Cancer – Basic Diagnostics.

By MGZ Medical Genetics Center in Germany.

SDHD, SDHB, SDHC, RET, PTEN
Specificity
20 %
Genes
12 %
Pheochromozytoma-Paraganglioma syndrome.

By MGZ Medical Genetics Center in Germany.

NF1, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
12 %
Thyroid Cancer.

By MGZ Medical Genetics Center in Germany.

DICER1, CHEK2, FLCN, SDHD, STK11, ATM, MEN1, SDHB, SDHC, RET, PTEN, MUTYH, APC
Specificity
8 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

By Bioscientia GmbH Center for Human Genetics in Germany.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia II.

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

RET
Specificity
100 %
Genes
12 %
Sequencing of risk exons of the RET proto-oncogene (exons 10, 11, 13, 14, 15, 16).

By Department of Molecular Endocrinology Institute of Endocrinology in Czech Republic.

RET
Specificity
100 %
Genes
12 %
MEN2A.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RET
Specificity
100 %
Genes
12 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

MYCL, ROS1, RPTOR, KIF5B, GNAI2, GNA13, EML4, BRD4, ARAF, NFE2L2, GNG2, KEAP1, NRG1, CCNE1, CD74, RICTOR, ERBB4, MYC, BCL6, SMO , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
12 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

KMT2C, FGFR4, NTRK3, ROS1, AXL, SMO, ERBB2, DDR2, KDR, PDGFRB, PIK3R1, AKT1, GNA11, IDH1, PDGFRA, ABL1, JAK2, EGFR, GNAQ, PIK3CA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
12 %
Central hypoventilation syndrome, congenital.

By Centogene AG - the Rare Disease Company in Germany.

RET
Specificity
100 %
Genes
12 %
Hirschsprung disease.

By Centogene AG - the Rare Disease Company in Germany.

RET
Specificity
100 %
Genes
12 %
Medullary thyroid carcinoma, somatic.

By Centogene AG - the Rare Disease Company in Germany.

RET
Specificity
100 %
Genes
12 %
RET, selective sequencing of exons 5, 8, 10, 11 and 13-16.

By Centogene AG - the Rare Disease Company in Germany.

RET
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
Multiple endocrine neoplasia type IIA.

By Centogene AG - the Rare Disease Company in Germany.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia type IIB.

By Centogene AG - the Rare Disease Company in Germany.

RET
Specificity
100 %
Genes
12 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia.

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

MEN1, RET
Specificity
50 %
Genes
12 %
Familial Tumor Syndromes Panel.

By CeGaT GmbH in Germany.

RASAL1, CYLD, DICER1, WRN, AKT1, PIK3CA, BAP1, SMARCB1, SMARCA4, SMARCE1, ATR, SPRED1, LZTR1, NF1, CDC73, MET, SDHD, CDKN2A, NF2, NBN , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
12 %
Pheochromocytoma and Paraganglioma Panel.

By CeGaT GmbH in Germany.

CDKN1B, NF1, PRKAR1A, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
8 %
Genes
12 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH in Germany.

ALDH1A2, OSR1, DSTYK, CHD1L, SPRY1, TRAP1, UPK3A, TBX18, FGF20, ITGA8, BICC1, ROBO2, SOX17, GDNF, FRAS1, FREM2, GRIP1, BMP4, FREM1, SDCCAG8 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
12 %
Multiple Endocrine Neoplasia.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

MEN1, RET
Specificity
50 %
Genes
12 %
RET.

By Innovagenomics Innovagenomics S.L in Spain.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia type II, RET.

By GGA - Galil Genetic Analysis in Israel.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia type 2.

By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile in Chile.

RET
Specificity
100 %
Genes
12 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

DDB2, DIS3L2, XPC, RHBDF2, CYLD, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL, FANCM, SLX4 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
12 %
Thyroid Cancer.

By Asper Biogene Asper Biogene LLC in Estonia.

DICER1, CDC73, PRKAR1A, SDHD, MEN1, SDHB, RET, TP53, PTEN, APC
Specificity
10 %
Genes
12 %
Multiple endocrine neoplasia type 2, RET sequencing.

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

RET
Specificity
100 %
Genes
12 %
Hirschsprung Disease Panel.

By Molecular Vision Laboratory in United States.

EDNRB, EDN3, RET
Specificity
34 %
Genes
12 %
Central hypoventilation syndrome, congenital.

By Praxis fuer Humangenetik Wien in Austria.

RET
Specificity
100 %
Genes
12 %
Medullary thyroid carcinoma.

By Praxis fuer Humangenetik Wien in Austria.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia 2A.

By Praxis fuer Humangenetik Wien in Austria.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia 2B.

By Praxis fuer Humangenetik Wien in Austria.

RET
Specificity
100 %
Genes
12 %
Pheochromocytoma.

By Praxis fuer Humangenetik Wien in Austria.

RET
Specificity
100 %
Genes
12 %
Renal agenesis.

By Praxis fuer Humangenetik Wien in Austria.

RET
Specificity
100 %
Genes
12 %
CARCINOMA MEDULAR DE TIROIDES.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia (MEN) 2B (screening RET proto-oncogene).

By Molecular Diagnosis Centre National University Hospital in Singapore.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia (MEN) 2A/FMTC (screening RET proto-oncogene).

By Molecular Diagnosis Centre National University Hospital in Singapore.

RET
Specificity
100 %
Genes
12 %
Inherited Cancer Screen.

By Counsyl in United States.

POLE, GREM1, POLD1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, MRE11, ATM, SDHA , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
12 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

POLE, POLD1, MITF, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
12 %
Central hypoventilation syndrome, congenital.

By MedGene in Slovakia.

RET
Specificity
100 %
Genes
12 %
Medullary thyroid carcinoma.

By MedGene in Slovakia.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia 2A.

By MedGene in Slovakia.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia 2B.

By MedGene in Slovakia.

RET
Specificity
100 %
Genes
12 %
Pheochromocytoma.

By MedGene in Slovakia.

RET
Specificity
100 %
Genes
12 %
Renal agenesis.

By MedGene in Slovakia.

RET
Specificity
100 %
Genes
12 %
Invitae Multiple Endocrine Neoplasia Type 2 Test.

By Invitae in United States.

RET
Specificity
100 %
Genes
12 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, KIT, SMARCB1, SMARCA4, SMARCE1, TERT, TERC, MITF , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
12 %
Invitae Hyperparathyroidism Panel.

By Invitae in United States.

CDKN1B, CASR, CDC73, MEN1, RET
Specificity
20 %
Genes
12 %
Invitae Thyroid Cancer Panel.

By Invitae in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
12 %
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel.

By Invitae in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
12 %
Invitae Pediatric Solid Tumors Panel.

By Invitae in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, SMARCE1, NF1, CDC73, PRKAR1A, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C, STK11, SUFU, NF2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
12 %
Hirschsprung disease: RET gene sequence analysis.

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

RET
Specificity
100 %
Genes
12 %
Renal Agenesis: RET gene sequence analysis.

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

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia type 2 (MEN2): RET gene sequence analysis (exons 10, 11, 13-16).

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

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia type 2 (MEN2): RET gene sequence analysis (exons 13-16).

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

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia type 2A (MEN2A): RET gene sequence (exons 10, 11, 13, 14).

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

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia type 2A (MEN2A): RET gene sequence analysis (exons 10, 11).

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

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia type 2B (MEN2B): RET gene sequence analysis (exons 15, 16).

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

RET
Specificity
100 %
Genes
12 %
Multiple endocrine Neoplasia type 2 (MEN2): RET gene sequence analysis (remaining exons: 1-9, 12, 17-20).

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

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: RET gene sequence analysis.

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

RET
Specificity
100 %
Genes
12 %
ONCOLOGY, PANEL.

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

POLH, XPC, HOXB13, XPA, ERCC5, AIP, ELANE, PDGFRA, GREM1, ERCC4, CDKN1B, XRCC2, FANCD2, FANCI, FANCL, SLX4, FANCE, FANCF, FANCG, FANCA , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
12 %
PARAGANGLIOMA-PHEOCHROMOCYTOMA.

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

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: RET Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RET
Specificity
100 %
Genes
12 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Congenital Central Hypoventilation Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDNF, ASCL1, BDNF, HOXA1, EDN3, PHOX2B, RET
Specificity
15 %
Genes
12 %
Pulmonary Disease: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDNF, ASCL1, BDNF, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B, CCDC40, DNAL1 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
12 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
12 %
Endocrine Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MXD1, AIP, CDKN1B, CDC73, PRKAR1A, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
12 %
Pheochromocytoma-Paraganglioma: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAX, SDHD, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
13 %
Genes
12 %
Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDNF, ASCL1, BDNF, HOXA1, EDN3, PHOX2B, RET
Specificity
15 %
Genes
12 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
12 %
Endocrine Cancer: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
8 %
Genes
12 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
12 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC, AIP , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
12 %
Lung Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1, MUC5B , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
12 %
Paraganglioma-Pheochromocytomas NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EGLN1, NF1, MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, KIF1B, RET, SDHAF2, VHL
Specificity
9 %
Genes
12 %
Central Hypoventilation Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
12 %
Thyroid Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SDHD, NRAS, KRAS, HRAS, BRAF, SDHB, RET, TP53, PTEN, MUTYH
Specificity
10 %
Genes
12 %
Multiple Endocrine Neoplasia Type 1 NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MEN1, RET
Specificity
50 %
Genes
12 %
Hirschsprung Disease NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ECE1, GDNF, EDNRB, EDN3, RET
Specificity
20 %
Genes
12 %
RET.

By Fulgent Genetics Fulgent Genetics in United States.

RET
Specificity
100 %
Genes
12 %
Focus Cancer Panel - 40 Genes.

By Fulgent Genetics Fulgent Genetics in United States.

RAD51, AXIN2, POLE, BAP1, KIT, NF1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
12 %
Thyroid Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
12 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RBM15, EXO1, XRCC3, PICALM, ROBO2, MSH3, DDB2, DIS3L2, XPC, HOXB13, CYLD, GALNT12, BUB1B, RAD51, XPA, ERCC5, DICER1, EGLN1, WRN, PRKDC , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
12 %
Paraganglioma-Pheochromocytoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
12 %
RET Sequencing and Deletion/Duplication.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

RET
Specificity
100 %
Genes
12 %
MyVantage(TM) Hereditary Comprehensive Cancer Panel.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

POLE, POLD1, NF1, RAD51D, BARD1, RAD51C, BRIP1, SMAD4, BMPR1A, CHEK2, SDHD, CDKN2A, CDK4, STK11, CDH1, PALB2, NBN, ATM, MEN1, SDHB , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
12 %
Hyperparathyroidism Panel.

By Blueprint Genetics in Finland.

CDKN1A, CDKN2C, CDKN2B, GCM2, PTH, AP2S1, GNA11, CDKN1B, CASR, CDC73, AIRE, MEN1, RET
Specificity
8 %
Genes
12 %
Renal Malformation Panel.

By Blueprint Genetics in Finland.

DSTYK, PBX1, ROBO2, AGT, REN, CCNQ, FREM2, BMP4, FREM1, ACE, ACTG2, FANCB, FOXC2, GATA3, SIX1, SIX5, SALL1, PAX2, RET, HNF1B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
12 %
Hereditary Pediatric Cancer Panel.

By Blueprint Genetics in Finland.

REST, DIS3L2, BUB1B, DICER1, WRN, AXIN2, BAP1, SMARCB1, SMARCA4, EZH2, RRAS, RASA2, NSUN2, LZTR1, NF1, CDC73, PRKAR1A, PRF1, CEBPA, PAX5 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
12 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

REST, PPM1D, EXO1, CD70, CEP57, ERCC1, MLH3, DDB2, DIS3L2, NTHL1, HOXB13, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, DDX41, SAMD9L , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
12 %
Hereditary Paraganglioma-Pheochromocytoma Panel.

By Blueprint Genetics in Finland.

NF1, MAX, SDHD, SDHA, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
12 %
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
12 %
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
12 %
Hereditary Endocrine Cancer Panel.

By Blueprint Genetics in Finland.

DICER1, WRN, AIP, CDKN1B, NF1, CDC73, PRKAR1A, MAX, MET, SDHD, SDHA, MEN1, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, TP53, PTEN , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
12 %
Hereditary Cancer High Risk Panel.

By Blueprint Genetics in Finland.

POLE, POLD1, BAP1, RAD51D, RAD51C, SMAD4, BMPR1A, CHEK2, CDKN2A, CDK4, STK11, CDH1, PALB2, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
12 %
protooncogene RET.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" in Argentina.

RET
Specificity
100 %
Genes
12 %
RET Break Apart FISH.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RET
Specificity
100 %
Genes
12 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

JAK1, ESR1, ROS1, ERBB4, SMO, ERBB2, DDR2, AKT1, GNA11, IDH1, PDGFRA, JAK2, EGFR, GNAQ, PIK3CA, JAK3, KIT, ERBB3, MTOR, CTNNB1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
12 %
Multiple endocrine neoplasia type 2B.

By Bioarray in Spain.

RET
Specificity
100 %
Genes
12 %
Familial medullary thyroid carcinoma.

By Bioarray in Spain.

RET
Specificity
100 %
Genes
12 %
Multiple endocrine neoplasia type 2A.

By Bioarray in Spain.

RET
Specificity
100 %
Genes
12 %
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
12 %
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
12 %
Breast Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

RAD54B, ESR2, ESR1, RAC1, ERBB4, ERBB2, KDR, CDK6, PIK3R1, AKT1, FBXW7, IDH1, EGFR, PIK3CA, FANCA, KIT, ERBB3, GATA3, FGFR1, BRIP1 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
12 %
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
12 %
RET Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

RET
Specificity
100 %
Genes
12 %
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
2 %
Genes
12 %
iGene Cancer Panel.

By ApolloGen, Inc. in United States.

NF1, RAD51C, BRIP1, SMAD4, BMPR1A, CDKN2A, STK11, CDH1, PALB2, PTCH1, NBN, ATM, MEN1, RET, TP53, PTEN, MUTYH, MLH1, MSH6, PMS2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
12 %
Multiple Endocrine Neoplasia, Type 2 panel.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

RET
Specificity
100 %
Genes
12 %
Medullary Thyroid Cancer (MTC) Genetic Test.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

RET
Specificity
100 %
Genes
12 %
Genetic Test of single known genetic variant.

By National Taiwan University Hospital A1 Center National Taiwan University Hospital in Taiwan.

GNAS, PKD1, PKD2, TSC1, TSC2, MEN1, RET, TP53, BRCA2, BRCA1
Specificity
10 %
Genes
12 %
Guardant360.

By Guardant Health in United States.

MAPK3, RHOA, RHEB, MAPK1, ESR1, NTRK3, ROS1, ARAF, NFE2L2, CCNE1, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, CCND2, AKT1, GNA11, FBXW7 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
12 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

ROS1, ERBB4, SMO, ERBB2, DDR2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
12 %
Hereditary Thyroid Cancer - RET Gene Analysis.

By GeneKor MSA in Greece.

RET
Specificity
100 %
Genes
12 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
12 %
Circulo Thyroid.

By Circulogene Theranostics in United States.

RET
Specificity
100 %
Genes
12 %
Hereditary Cancer Comprehensive Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

TP53BP1, KLLN, CHEK1, GEN1, MYH15, MYH1, MYH13, MYH4, PPM1D, HOXB13, MYH10, GALNT12, RAD51, AKT1, POLE, ABRAXAS1, ETV6, GREM1, POLD1, PIK3CA , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
12 %
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
12 %
Otogenetics Hereditary Cancers.

By Otogenetics in United States.

PALLD, RAD51, NF1, NTRK1, RAD51D, BARD1, RAD51C, BRIP1, RAD50, SMAD4, BMPR1A, CHEK2, MET, CDKN2A, CDK4, STK11, CDH1, PALB2, PTCH1, NBN , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
12 %
HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
12 %
PHEOCHROMOCYTOMA-PARAGANGLIOMA.

By Laboratorio de Genetica Clinica SL in Spain.

MAX, SDHD, SDHA, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
12 %
Genes
12 %
MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 (MEN2).

By Laboratorio de Genetica Clinica SL in Spain.

RET
Specificity
100 %
Genes
12 %
THYROID CARCINOMA, MEDULLARY.

By Laboratorio de Genetica Clinica SL in Spain.

RET
Specificity
100 %
Genes
12 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

ETV1, JAK1, ERG, ESR1, FGFR4, NTRK3, ROS1, ERBB4, AXL, MYC, SMO, ERBB2, DDR2, CCND1, CDK6, NTRK2, AKT1, AKT3, GNA11, IDH1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
12 %
Renal Agenesis, Sequencing RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Ondine Syndrome, Sequencing RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2A , Sequencing RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Hirschsprung Disease, Sequencing RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2A, Sequencing Exons (10,11) RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2B, Sequencing Exons (15,16) RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type FMTC , Sequencing Exons (10,11,13,14) RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2, Deletions-Duplications (MLPA) RET Gene.

By Reference Laboratory Genetics in Spain.

RET
Specificity
100 %
Genes
12 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

CEP57, DDB2, DIS3L2, XPC, RHBDF2, CYLD, BUB1B, XPA, ERCC5, DICER1, WRN, AIP, EXT1, EXT2, EGFR, ERCC4, BAP1, FANCD2, FANCI, FANCL , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
12 %
Hereditary Pheochromocytoma-Paraganglioma Syndrome , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

NF1, MAX, SDHD, SDHA, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, VHL
Specificity
10 %
Genes
12 %
Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

ECE1, GDNF, EDNRB, EDN3, L1CAM, RET
Specificity
17 %
Genes
12 %
Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

GDNF, ASCL1, BDNF, EDN3, PHOX2B, RET
Specificity
17 %
Genes
12 %
Hereditary Thyroid Cancer , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
12 %
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
12 %
Multiple endocrine neoplasia, type 2.

By Labor Dr. Wisplinghoff in Germany.

RET
Specificity
100 %
Genes
12 %
Phosphorus Brain and Nervous System Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, AIP, CDKN1B, SMARCB1, SMARCA4, SMARCE1, NF1, PRKAR1A, MAX, SDHD, SUFU, NF2, PHOX2B, PTCH1, ALK, TSC1, TSC2, HRAS, SDHA, MEN1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
12 %
Phosphorus Thyroid Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DICER1, PRKAR1A, CHEK2, RET, TP53, PTEN, APC
Specificity
15 %
Genes
12 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, HOXB13, DICER1, WRN, POT1, AIP, AXIN2, POLE, PDGFRA, EGFR, GREM1, POLD1, CDKN1B, BAP1, XRCC2, KIT, SMARCB1, SMARCA4, SMARCE1, TERT , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
12 %
Phosphorus Pediatric Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

DIS3L2, DICER1, WRN, AXIN2, BAP1, SMARCB1, TERT, TERC, EZH2, NF1, CDC73, PRKAR1A, CEBPA, GATA2, SMAD4, BMPR1A, MAX, GPC3, SDHD, CDKN1C , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
12 %
GeneStrat Genomic Test.

By Biodesix, Inc. Biodesix, Inc. in United States.

ROS1, EGFR, ALK, KRAS, BRAF, RET
Specificity
17 %
Genes
12 %
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
12 %
Non syndromic Hirschsprung Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SEMA3C, SEMA3D, NRG3, NRG1, NRTN, ECE1, GDNF, EDNRB, EDN3, RET
Specificity
10 %
Genes
12 %
CEN4GEN Breast cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WEE1, ACVR1B, PTGFR, ZBED4, ZNF226, TRAF5, PPM1L, MAP2K4, PCGF2, PBRM1, FBXO32, EXOC2, NCOR1, MUC16, ESR1, KMT2C, ITCH, MYC, CBFB, ERBB2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
12 %
CEN4GEN Gastric cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WNK2, ADGRB3, SSTR1, TRRAP, LRP1B, LPAR2, GPR78, ATP4A, CCNE1, TRIO, DCC, MYC, ERBB2, PRKDC, FBXW7, PIK3CA, SPEG, NOTCH1, CTNNB1, S1PR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
12 %
CEN4GEN Lung cancer: Extended gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ADGRB3, LRP1B, EPHA5, MUC16, GRM8, PIK3CG, ROS1, NFE2L2, KEAP1, ERBB4, MYC, ERBB2, MDM2, RUNX1T1, AKT1, FBXW7, PDGFRA, EGFR, RARB, PIK3CA , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RET
Specificity
100 %
Genes
12 %
Endocrine Cancer: gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

AIP, CDKN1B, CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
7 %
Genes
12 %
Endocrine Cancer: gene deletion/duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CDC73, PRKAR1A, MAX, SDHD, MEN1, TMEM127, SDHB, SDHC, RET, SDHAF2, TP53, PTEN, VHL
Specificity
8 %
Genes
12 %
Pheochromocytoma-Paraganglioma: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MAX, SDHD, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
12 %
Genes
12 %
Pheochromocytoma-Paraganglioma: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MAX, SDHD, TMEM127, SDHB, FH, SDHC, RET, SDHAF2, VHL
Specificity
12 %
Genes
12 %
CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ESR1, SMO, ERBB2, AKT1, IDH1, PDGFRA, EGFR, PIK3CA, KIT, MTOR, CTNNB1, MET, CDKN2A, STK11, PTCH1, ATM, MAP2K2, FGFR2, NRAS, KRAS , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
12 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ERBB4, SMO, ERBB2, KDR, SRC, AKT1, GNA11, FBXW7, IDH1, PDGFRA, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, CSF1R, PIK3CA, GNAS, JAK3 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
12 %
Multiple Endocrine Neoplasia Type 2: RET Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

RET
Specificity
100 %
Genes
12 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, AIP, POLD1, CDKN1B, BAP1, XRCC2, MGMT, SMARCB1, SMARCA4, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
12 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BUB1B, POLD1, BAP1, XRCC2, SMARCB1, RAD51D, BARD1, RAD51C, CDC73, PRKAR1A, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
12 %
Brachydactyly type A1 (sequence analysis of IHH gene).

By CGC Genetics in Portugal.

IHH
Specificity
100 %
Genes
12 %
Brachydactyly type A1 (sequence analysis of IHH gene).

By CGC Genetics in Portugal.

IHH
Specificity
100 %
Genes
12 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
12 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
12 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

RSPRY1, PAM16, LONP1, NANS, KIF22, ACAN, FN1, PAPSS2, XYLT1, GPX4, IHH, NPR2, PCYT1A, MMP9, INPPL1, MMP13, DDR2, MATN3, TRAPPC2, RAB33B , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
12 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

GSC, IHH, NPR2, DDR2, GDF5, TRPS1, GPC6, ZSWIM6, PDE4D, ROR2, WNT5A, IFT122, IFT43, IFT140, ADAMTSL2, WDR35, PRKAR1A, FGFR3, FBN1
Specificity
6 %
Genes
12 %
IHH.

By Fulgent Genetics Fulgent Genetics in United States.

IHH
Specificity
100 %
Genes
12 %
Brachydactyly / Syndactyly Panel.

By Blueprint Genetics in Finland.

NOG, IHH, BMP2, GDF5, PTHLH, HOXD13, PTDSS1, PDE4D, CCNQ, ROR2, HOXA13, ESCO2, MYCN, GNAS, BMPR1B, TP63, SOX9, CHSY1, DHCR7, RECQL4
Specificity
5 %
Genes
12 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ACAN, PAPSS2, DVL1, XYLT1, IHH, NPR2, MMP9, INPPL1, MATN3, TRAPPC2, GDF5, ADAMTS10, TRIP11, LIFR, FLNB, ACP5, DLL3, CHST3, WISP3, SLC34A3 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
12 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

DVL1, IHH, NPR2, INPPL1, GDF5, TRPS1, ADAMTS10, TRIP11, SLC35D1, LIFR, ROR2, WNT5A, EXT1, IFT122, GNAS, WDR19, BMPR1B, LTBP2, IFT140, ADAMTSL2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
12 %
BRACHYDACTYLY TYPE A1.

By Laboratorio de Genetica Clinica SL in Spain.

IHH, GDF5
Specificity
50 %
Genes
12 %
Brachydactyly Type A1 , Sequencing IHH Gene.

By Reference Laboratory Genetics in Spain.

IHH
Specificity
100 %
Genes
12 %
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

NOG, IHH, BMP2, GDF5, PTHLH, HOXD13, WNT7A, TBX15, ROR2, HOXA13, ESCO2, MGP, GNAS, BMPR1B, TP63, SOX9, CHSY1, RECQL4
Specificity
6 %
Genes
12 %

Alternate names

Hirschsprung Disease, Susceptibility To, 1; Hscr1 Is also known as hirschsprung disease;hscr, aganglionic megacolon, megacolon, aganglionic;mgc.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IIIB; USH3B MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A MASA SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more