Septo-optic Dysplasia Spectrum

Description

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

Clinical Features

Top most frequent phenotypes and symptoms related to Septo-optic Dysplasia Spectrum

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Visual impairment
And another 23 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Septo-optic Dysplasia Spectrum have a estimated birth prevalence of 10 per 100k worldwide.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Septo-optic Dysplasia Spectrum Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Webb-Dattani syndrome.

By Centogene AG - the Rare Disease Company in Germany.

ARNT2
Specificity
100 %
Genes
15 %
ARNT2.

By Fulgent Genetics Fulgent Genetics in United States.

ARNT2
Specificity
100 %
Genes
15 %
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
58 %
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
43 %
Micropthalmia, Optic Nerve Hypoplasia - SOX2 Sequencing.

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

SOX2
Specificity
100 %
Genes
15 %
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
3 %
Genes
43 %
Septo-Optic Dysplasia and Schizencephaly.

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

SIX3, EMX2, COL4A1, HESX1, SOX2, SHH
Specificity
34 %
Genes
29 %
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
7 %
Genes
29 %
Microphthalmia, syndromic 3.

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

SOX2
Specificity
100 %
Genes
15 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

View the complete list with 41 more genes
Specificity
4 %
Genes
29 %
SOX2 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

SOX2
Specificity
100 %
Genes
15 %
SOX2. MLPA testing.

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

SOX2
Specificity
100 %
Genes
15 %
SOX2. Complete sequencing.

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

SOX2
Specificity
100 %
Genes
15 %
Microphthalmia, syndromic 3 (sequence analysis of SOX2 gene).

By CGC Genetics in Portugal.

SOX2
Specificity
100 %
Genes
15 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, GDF6, MITF, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
29 %
Microphthalmia syndromic 3 (deletion/duplication analysis on SOX2 gene).

By CGC Genetics in Portugal.

SOX2
Specificity
100 %
Genes
15 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
24 %
Genes
58 %
Septooptic dysplasia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

TAX1BP3, EPG5, LHX3, LHX4, GLI2, SOX3, GH1, POU1F1, ANOS1, FGF8, SLC12A6, PROP1, FGFR2, HESX1, SOX2, OTX2, PAX6
Specificity
24 %
Genes
58 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BMP7, SMOC1, ALDH1A3, TENM3, BMP4, CRYBA4, VSX2, FOXE3, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX
Specificity
12 %
Genes
29 %
Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
60 %
Genes
43 %
SOX2-Related Ocular Disorders via SOX2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOX2
Specificity
100 %
Genes
15 %
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LHX3, LHX4, GLI2, SOX3, POU1F1, PROP1, HESX1, SOX2, OTX2
Specificity
45 %
Genes
58 %
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
14 %
Genes
72 %
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
5 %
Genes
72 %
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
5 %
Genes
72 %
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
3 %
Genes
72 %
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
4 %
Genes
72 %
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
72 %
SOX2.

By MGZ Medical Genetics Center in Germany.

SOX2
Specificity
100 %
Genes
15 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...)

View the complete list with 147 more genes
Specificity
2 %
Genes
43 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC).

By MGZ Medical Genetics Center in Germany.

SALL2, HMX1, SMOC1, MAB21L2, ERCC1, ERCC5, C12orf57, FRAS1, FREM2, GRIP1, TBC1D20, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, VAX1, RAB18 , (...)

View the complete list with 28 more genes
Specificity
7 %
Genes
43 %
PAX6-Related Anophthalmia.

By Bioscientia GmbH Center for Human Genetics in Germany.

VSX2, SOX2, SIX6, OTX2, PAX6
Specificity
40 %
Genes
29 %
Microphthalmia syndromic type 3.

By Centogene AG - the Rare Disease Company in Germany.

SOX2
Specificity
100 %
Genes
15 %
Microphthalmia panel.

By Centogene AG - the Rare Disease Company in Germany.

TENM1, ALDH1A3, TENM3, BMP4, VSX2, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, RAX
Specificity
16 %
Genes
29 %
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
29 %
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
29 %
Microphthalmy Panel.

By CeGaT GmbH in Germany.

SMOC1, MAB21L2, HMGB3, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, FREM1, VAX1, RARB, RBP4, GDF6, NAA10, CHD7, SOX2, SIX6, BCOR, HCCS , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
29 %
Septo-optical dysplasia Panel.

By CeGaT GmbH in Germany.

TAX1BP3, SOX3, PROKR2, FGFR2, HESX1, SOX2, OTX2
Specificity
72 %
Genes
72 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

SLC38A8, SMOC1, MAB21L2, HMGB3, ASPH, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1, RARB, LTBP2, FOXE3, GDF6, COL4A1, CHD7, HESX1 , (...)

View the complete list with 15 more genes
Specificity
9 %
Genes
43 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ZNF644, YAP1, JAM3, HMX1, ADAMTS18, SMOC1, CRYGS, HSF4, VIM, EPHA2, CRYGB, CRYGC, CRYBB2, MIP, CRYBA1, BFSP2, CHMP4B, CRYGD, RGS9BP, PLA2G5 , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
29 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory in United States.

DCDC1, LHX2, SNX3, ELP4, TMEM98, COX7B, HMX1, MAB21L2, HMGB3, ATOH7, C12orf57, SLC25A1, B3GLCT, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, VSX2, VAX1 , (...)

View the complete list with 39 more genes
Specificity
7 %
Genes
58 %
Septo-optic dysplasia.

By Molecular Vision Laboratory in United States.

HESX1, SOX2, OTX2, PAX6
Specificity
75 %
Genes
43 %
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
2 %
Genes
29 %
Invitae Microphthalmia/Anophthalmia Disorders Panel.

By Invitae in United States.

PXDN, ALDH1A3, PRSS56, BMP4, VSX2, FOXE3, GDF6, PAX2, SOX2, BCOR, STRA6, SHH, OTX2, MFRP, RAX
Specificity
14 %
Genes
29 %
Morsier syndrome: SOX2 gene sequence analysis.

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

SOX2
Specificity
100 %
Genes
15 %
Anophthalmia / Microphthalmia: SOX2 gene sequence analysis.

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

SOX2
Specificity
100 %
Genes
15 %
Septooptic dysplasia.

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

LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
45 %
Genes
58 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
29 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
29 %
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 25 more genes
Specificity
7 %
Genes
43 %
Anophthalmia/Microphthalmia/Anterior Segment Dysgenesis/Anomaly: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, FRAS1, FREM2, GRIP1, B3GLCT, BMP4, VSX2, FREM1, VAX1, FOXE3, COL4A1, SOX2, BCOR, HCCS, STRA6, CYP1B1, OTX2, NDP, MFRP, PITX2 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
29 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SMOC1, RGS9BP, PLA2G5, VCAN, FRAS1, FREM2, GRIP1, ZNF423, TCTN3, B3GLCT, BMP4, VSX2, FREM1, VAX1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
29 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
2 %
Genes
29 %
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
43 %
Septo-optic Dysplasia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PROP1, HESX1, SOX2, OTX2, PAX6
Specificity
60 %
Genes
43 %
SOX2.

By Fulgent Genetics Fulgent Genetics in United States.

SOX2
Specificity
100 %
Genes
15 %
Comprehensive Short Stature Syndrome Panel.

By Blueprint Genetics in Finland.

IRS1, IGFALS, IGF1R, TBX3, IGF1, POC1A, LARP7, CCDC8, OBSL1, XRCC4, RNU4ATAC, ORC4, ORC6, CDT1, CDC6, ORC1, CDC45, CEP63, CUL7, RTTN , (...)

View the complete list with 55 more genes
Specificity
6 %
Genes
58 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

FDXR, SLC38A8, CHN1, ROBO3, ANTXR1, RTN4IP1, SLC25A46, SALL4, PRPS1, NR2F1, SETX, KIF21A, HESX1, SOX2, APTX, NDUFS1, TIMM8A, FRMD7, PHOX2A, TYMP , (...)

View the complete list with 18 more genes
Specificity
8 %
Genes
43 %
Septo-Optic Dysplasia Panel.

By Blueprint Genetics in Finland.

HESX1, SOX2, OTX2, PAX6
Specificity
75 %
Genes
43 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

COX7B, BMP7, HMX1, SLC38A8, ADAMTS18, SMOC1, MAB21L2, PXDN, ERCC5, FRAS1, FREM2, GRIP1, ALDH1A3, TENM3, PRSS56, BMP4, VSX2, FREM1, RARB, GJA1 , (...)

View the complete list with 34 more genes
Specificity
6 %
Genes
43 %
Gastrointestinal Atresia Panel.

By Blueprint Genetics in Finland.

CLMP, TTC7A, PTF1A, RFX6, MYCN, EFTUD2, GLI3, FANCB, MID1, DHCR7, CHD7, FANCC, SOX2
Specificity
8 %
Genes
15 %
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
2 %
Genes
72 %
Syndromic microphthalmia type 3.

By Bioarray in Spain.

SOX2
Specificity
100 %
Genes
15 %
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
29 %
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
29 %
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
29 %
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
29 %
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
29 %
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
2 %
Genes
29 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
15 %
ANOPHTHALMIA/ MICROPHTALMIA.

By Laboratorio de Genetica Clinica SL in Spain.

VSX2, SOX2, SIX6, SHH, OTX2, RAX
Specificity
34 %
Genes
29 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

SMOC1, MAB21L2, PXDN, ALDH1A3, TENM3, PRSS56, GDF3, BMP4, CRYBA4, VSX2, RARB, GDF6, NAA10, SOX2, SIX6, BCOR, HCCS, STRA6, SHH, OTX2 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
29 %
Anophthalmia/Microphthalmia, Sequencing SOX2 Gene.

By Reference Laboratory Genetics in Spain.

SOX2
Specificity
100 %
Genes
15 %
Septo-Optic Dysplasia , Sequencing SOX2 Gene.

By Reference Laboratory Genetics in Spain.

SOX2
Specificity
100 %
Genes
15 %
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

GDF3, BMP4, VSX2, VAX1, GDF6, MITF, SOX2, SIX6, BCOR, HCCS, STRA6, OTX2, ABCB6, RAX
Specificity
15 %
Genes
29 %
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LHX3, LHX4, GLI2, SOX3, FGF8, HESX1, SOX2, OTX2, PAX6
Specificity
45 %
Genes
58 %
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
29 %
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
5 %
Genes
29 %
SOX2-Related Eye Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SOX2
Specificity
100 %
Genes
15 %
SOX2-Related Eye Disorders: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SOX2
Specificity
100 %
Genes
15 %
Normosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1
Specificity
29 %
Genes
29 %
Anosmic Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, FGFR1
Specificity
29 %
Genes
29 %
PROKR2 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

PROKR2
Specificity
100 %
Genes
15 %
Complete Kallmann/IHH Evaluation.

By Athena Diagnostics Inc in United States.

ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
20 %
Genes
29 %
Hypogonadotropic Hypogonadism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
11 %
Genes
29 %
Kallmann Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

KISS1, TAC3, WDR11, FGF17, LHB, FEZF1, NSMF, IL17RD, ANOS1, FGF8, PROK2, PROKR2, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
12 %
Genes
29 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
11 %
Genes
29 %
Hypogonadotropic hypogonadism 3 with or without anosmia (sequence analysis of PROKR2 gene).

By CGC Genetics in Portugal.

PROKR2
Specificity
100 %
Genes
15 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, SEMA3A, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
43 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes).

By CGC Genetics in Portugal.

HS6ST1, SPRY4, DUSP6, FLRT3, KISS1, TAC3, WDR11, FGF17, FSHB, LHB, FEZF1, NSMF, SEMA3A, IL17RD, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
43 %
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
20 %
Genes
29 %
Hypogonadotropic Hypogonadism/Kallmann Syndrome via the PROKR2 Gene.

By PreventionGenetics PreventionGenetics in United States.

PROKR2
Specificity
100 %
Genes
15 %
Kallmann Syndrome 3.

By Bioscientia GmbH Center for Human Genetics in Germany.

PROKR2
Specificity
100 %
Genes
15 %
Kallmann syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

PROKR2
Specificity
100 %
Genes
15 %
Kallmann syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

PROKR2
Specificity
100 %
Genes
15 %
Kallmann syndrome.

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

ANOS1, FGF8, PROK2, PROKR2, FGFR1, CHD7
Specificity
34 %
Genes
29 %
Kallmann syndrome 3.

By Praxis fuer Humangenetik Wien in Austria.

PROKR2
Specificity
100 %
Genes
15 %
PROKR2 Gene Sequencing.

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

PROKR2
Specificity
100 %
Genes
15 %
Kallmann syndrome 3.

By MedGene in Slovakia.

PROKR2
Specificity
100 %
Genes
15 %
KALLMANN SYNDROME AND RELATED DISORDERS.

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

HS6ST1, KISS1, TAC3, WDR11, NSMF, SEMA3A, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
13 %
Genes
29 %
Endocrine Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
29 %
Endocrine Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GDF9, KISS1, TAC3, FSHR, BMP15, NOBOX, FIGLA, PSMC3IP, NSMF, CYP19A1, AGPAT2, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, GLIS3, BLK, KLF11 , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
29 %
Kallmann Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

KISS1, TAC3, NSMF, SEMA3A, ANOS1, FGF8, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
16 %
Genes
29 %
Hypogonadotropic Hypogonadism (HH) and Related Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

KISS1, TAC3, NSMF, ANOS1, FGF8, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
16 %
Genes
29 %
PROKR2.

By Fulgent Genetics Fulgent Genetics in United States.

PROKR2
Specificity
100 %
Genes
15 %
Kallmann Syndrome Panel.

By Blueprint Genetics in Finland.

ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, CHD7
Specificity
23 %
Genes
29 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 29 more genes
Specificity
5 %
Genes
29 %
Kallmann Syndrome NGS and Deletion/Duplication Panel.

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

ANOS1, FGF8, PROK2, PROKR2, GNRHR, FGFR1, CHD7
Specificity
29 %
Genes
29 %
PROKR2 Gene Sequencing and Deletion/Duplication Analysis.

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

PROKR2
Specificity
100 %
Genes
15 %
KALLMANN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

ANOS1, FGF8, PROK2, PROKR2, FGFR1, CHD7
Specificity
34 %
Genes
29 %
KALLLMAN SYNDROME (HYPOGONADOTROPIC HYPOGONADISM).

By Laboratorio de Genetica Clinica SL in Spain.

ANOS1, FGF8, PROKR2, FGFR1, CHD7
Specificity
40 %
Genes
29 %
Kallmann syndrome/gonadotropin-releasing hormone deficiency panel.

By LifeLabs Genetics in Canada.

TAC3, SEMA3A, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, CHD7
Specificity
19 %
Genes
29 %
Kallmann Syndrome Type 3 , Sequencing PROKR2 Gene.

By Reference Laboratory Genetics in Spain.

PROKR2
Specificity
100 %
Genes
15 %
Kallmann Syndrome , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

HS6ST1, POLR3B, KISS1, TAC3, WDR11, FSHB, LHB, NSMF, SEMA3A, ANOS1, FGF8, PROK2, PROKR2, GNRHR, KISS1R, TACR3, FGFR1, GNRH1, NR0B1, CHD7
Specificity
10 %
Genes
29 %
Kallmann syndrome.

By Labor Dr. Wisplinghoff in Germany.

ANOS1, PROK2, PROKR2, FGFR1
Specificity
50 %
Genes
29 %
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
25 %
Genes
29 %
Septooptic Dysplasia.

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

HESX1
Specificity
100 %
Genes
15 %
HESX1 Gene Sequencing.

By GeneDx in United States.

HESX1
Specificity
100 %
Genes
15 %
HESX1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

HESX1
Specificity
100 %
Genes
15 %
HESX1. Complete sequencing.

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

HESX1
Specificity
100 %
Genes
15 %
Pituitary hormone deficiency, combined 5 (sequence analysis of HESX1 gene).

By CGC Genetics in Portugal.

HESX1
Specificity
100 %
Genes
15 %
Septooptic dysplasia (sequence analysis of HESX1 gene).

By CGC Genetics in Portugal.

HESX1
Specificity
100 %
Genes
15 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

LHX3, LHX4, SOX3, POU1F1, PROP1, HESX1, OTX2
Specificity
43 %
Genes
43 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics in Portugal.

LHX3, LHX4, SOX3, POU1F1, PROP1, HESX1, OTX2
Specificity
43 %
Genes
43 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TRHR, TRH, TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, UBR1, GLIS3, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
15 %
HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HESX1
Specificity
100 %
Genes
15 %
Short stature with endocrinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

GHSR, IGF1R, IGF1, LHX3, LHX4, SOX3, GHR, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
22 %
Genes
43 %
Short stature with endocrinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GHSR, IGF1R, IGF1, LHX3, LHX4, SOX3, GHR, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
22 %
Genes
43 %
Short stature with endocrinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GHSR, IGF1R, IGF1, LHX3, LHX4, SOX3, GHR, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
22 %
Genes
43 %
Septooptic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

HESX1
Specificity
100 %
Genes
15 %
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
43 %
HESX1.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

HESX1
Specificity
100 %
Genes
15 %
Single gene testing HESX1.

By CeGaT GmbH in Germany.

HESX1
Specificity
100 %
Genes
15 %
Combined Pituitary Hormone Deficiency.

By Asper Biogene Asper Biogene LLC in Estonia.

LHX3, LHX4, GH1, POU1F1, GHRHR, PROP1, HESX1, OTX2
Specificity
25 %
Genes
29 %
Hypothyroidism and Thyroid Hormone Resistance.

By Asper Biogene Asper Biogene LLC in Estonia.

TRHR, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, IYD, HESX1, SECISBP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
15 %
Pituary hormone deficiency.

By Praxis fuer Humangenetik Wien in Austria.

HESX1
Specificity
100 %
Genes
15 %
Septooptic Dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

HESX1
Specificity
100 %
Genes
15 %
Pituary hormone deficiency.

By MedGene in Slovakia.

HESX1
Specificity
100 %
Genes
15 %
Septooptic Dysplasia.

By MedGene in Slovakia.

HESX1
Specificity
100 %
Genes
15 %
Morsier syndrome: HESX1 gene sequence analysis.

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

HESX1
Specificity
100 %
Genes
15 %
Combined pituitary hormone deficiency (CPHD): HESX1 gene sequence analysis.

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

HESX1
Specificity
100 %
Genes
15 %
HESX1.

By Fulgent Genetics Fulgent Genetics in United States.

HESX1
Specificity
100 %
Genes
15 %
Hypothyroidism and Resistance to Thyroid Hormone Panel.

By Blueprint Genetics in Finland.

TG, TPO, SLC5A5, FOXE1, DUOX2, DUOXA2, THRA, IGSF1, TSHB, PAX8, GNAS, THRB, NKX2-5, NKX2-1, SLC16A2, POU1F1, PROP1, TSHR, HESX1, SECISBP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
15 %
Septo-optic dysplasia.

By Bioarray in Spain.

HESX1
Specificity
100 %
Genes
15 %
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel.

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

GHSR, LHX3, LHX4, GH1, POU1F1, GHRHR, BTK, PROP1, HESX1, OTX2
Specificity
20 %
Genes
29 %
Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel.

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

LHX3, LHX4, POU1F1, PROP1, HESX1, OTX2
Specificity
34 %
Genes
29 %
Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel.

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

GHSR, LHX4, GHR, GH1, POU1F1, GHRHR, PROP1, HESX1
Specificity
13 %
Genes
15 %
HESX1 Gene Sequencing and Deletion/Duplication analysis.

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

HESX1
Specificity
100 %
Genes
15 %
COMBINED PITUITARY HORMONE DEFICIENCY.

By Laboratorio de Genetica Clinica SL in Spain.

LHX3, LHX4, POU1F1, PROP1, HESX1, CYP11B1, OTX2
Specificity
29 %
Genes
29 %
SEPTO-OPTIC DYSPLASIA (MORSIER SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

HESX1
Specificity
100 %
Genes
15 %
Septo-Optic Dysplasia , Sequencing HESX1 Gene.

By Reference Laboratory Genetics in Spain.

HESX1
Specificity
100 %
Genes
15 %
Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

LHX3, LHX4, POU1F1, PROP1, HESX1, OTX2
Specificity
34 %
Genes
29 %
FGFR1 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

FGFR1
Specificity
100 %
Genes
15 %
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
15 %
NGS Craniosynostosis Panel.

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

TWIST1, MSX2, POR, RAB23, FGFR1, FGFR2, RECQL4
Specificity
15 %
Genes
15 %
FGFR1-Related Disorders - FGFR1 Sequencing.

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

FGFR1
Specificity
100 %
Genes
15 %
FGFR1-Related Disorders - Del/Dup Analysis.

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

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer Syndrome - FGFR1 Sequencing.

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

FGFR1
Specificity
100 %
Genes
15 %
Test for Pfeiffer syndrome.

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

FGFR1, FGFR2
Specificity
50 %
Genes
15 %
Pfeiffer Syndrome.

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

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
15 %
Craniodysmorphology Screen (Targeted FGFR1,2, and 3).

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
15 %
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
15 %
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
15 %
Holoprosencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
15 %
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
15 %
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
15 %
Holoprosencephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

GLI2, CDON, ZIC2, TGIF1, STIL, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
10 %
Genes
15 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
15 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

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

TRIP11, SLC35D1, LIFR, FLNB, DLL3, ARSE, NEK1, DYNC2H1, EVC2, EVC, IFT80, TTC21B, SERPINH1, GNPAT, WDR19, SOX9, COMP, POR, EBP, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
15 %
FGFR1 Gene Sequencing.

By GeneDx in United States.

FGFR1
Specificity
100 %
Genes
15 %
Autism/Intellectual Disability/Multiple Anomalies.

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

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

View the complete list with 69 more genes
Specificity
2 %
Genes
15 %
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
15 %
FGFR1. Complete sequencing.

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

FGFR1
Specificity
100 %
Genes
15 %
FGFR1. MLPA testing.

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

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer Syndrome - FGFR1 Exon 5 and FGFR2 Exons 8 and 10 Sequence Analysis.

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

FGFR1, FGFR2
Specificity
50 %
Genes
15 %
Craniosynostosis Next Generation Sequencing Panel.

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

TWIST1, FGFR1, FGFR2, FGFR3
Specificity
25 %
Genes
15 %
Craniosynostosis Panel.

By Molecular Genetics Laboratory Children's Mercy Hospital and Clinics in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
15 %
FGFR1-Related Craniosynostosis.

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
15 %
Craniosynostosis (NGS panel for 4 genes).

By CGC Genetics in Portugal.

TWIST1, FGFR1, FGFR2, FGFR3
Specificity
25 %
Genes
15 %
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
15 %
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes).

By CGC Genetics in Portugal.

FGFR1, FGFR2
Specificity
50 %
Genes
15 %
Pfeiffer syndrome (sequence analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
15 %
Trigonocephaly (sequence analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
15 %
Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes).

By CGC Genetics in Portugal.

ALX3, ALX1, EFNB1, ALX4, TWIST1, MSX2, FGFR1, FGFR2, RUNX2, FGFR3
Specificity
10 %
Genes
15 %
Pfeiffer syndrome (deletions/duplications analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer syndrome (deletions/duplications analysis of FGFR1 gene).

By CGC Genetics in Portugal.

FGFR1
Specificity
100 %
Genes
15 %
Osteoglophonic dysplasia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
15 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SF3B4, TCF12, SRCAP, EFTUD2, EP300, TWIST1, POLR1D, TCOF1, POLR1C, FGFR1, NIPBL, SMC1A, SMC3, RAD21, HDAC8, FGFR2, CREBBP, FGFR3, DHODH
Specificity
6 %
Genes
15 %
FGFR1-Related Disorders via the FGFR1 Gene.

By PreventionGenetics PreventionGenetics in United States.

FGFR1
Specificity
100 %
Genes
15 %
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
15 %
Craniosynostosis core NGS panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
15 %
Craniosynostosis core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
15 %
Craniosynostosis core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TCF12, TWIST1, FGFR1, FGFR2, FGFR3
Specificity
20 %
Genes
15 %
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
15 %
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
15 %
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
15 %
FGFR1-related craniosynostosis.

By Institute of Human Genetics Cologne University in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Kallmann syndrome 2.

By Institute of Human Genetics Cologne University in Germany.

FGFR1
Specificity
100 %
Genes
15 %
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
29 %
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
29 %
Kallmann Syndrome 2.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR1
Specificity
100 %
Genes
15 %
FGFR1-Related Craniosynostosis.

By Bioscientia GmbH Center for Human Genetics in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Kallmann syndrome.

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

TNNI3, FGFR1
Specificity
50 %
Genes
15 %
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
15 %
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
15 %
Kallmann syndrome type 2.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Jackson-Weiss syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Osteoglophonic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Hartsfield syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Craniosynostosis, FGFR1 related.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Trigonocephaly type 1.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Jackson-Weiss syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Osteoglophonic dysplasia.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Trigonocephaly type 1.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Craniosynostosis, FGFR1 related.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Hartsfield syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Fluorescent in situ Hybridization - Hematopathology.

By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA in United States.

ABI1, DLEU1, CRLF2, CDKN2C, CKS1B, MECOM, MYC, BCL6, PBX1, TCF3, RARA, CBFB, PML, BCL2, PDGFRB, RUNX1T1, BCR, ETV6, PDGFRA, ABL1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
15 %
FGFR1-related craniosynostosis.

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

FGFR1
Specificity
100 %
Genes
15 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

TCF12, ERF, MEGF8, FREM1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, SKI, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
5 %
Genes
15 %
Craniosynostosis.

By Asper Biogene Asper Biogene LLC in Estonia.

IL11RA, TWIST1, MSX2, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
15 %
Genes
15 %
FGFR1 sequencing.

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

FGFR1
Specificity
100 %
Genes
15 %
FGFR1-Related Craniosynostosis.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

FGFR1
Specificity
100 %
Genes
15 %
FGFR1-Related Craniosynostosis.

By Clinical Genomics Maastricht University Medical Centre in Netherlands.

FGFR1
Specificity
100 %
Genes
15 %
Jackson-Weiss syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
15 %
Kallmann syndrome 2.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
15 %
Osteoglophonic dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
15 %
Trigonocephaly 1.

By Praxis fuer Humangenetik Wien in Austria.

FGFR1
Specificity
100 %
Genes
15 %
FGFR1 Gene Sequencing.

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

FGFR1
Specificity
100 %
Genes
15 %
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
29 %
Jackson-Weiss syndrome.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
15 %
Kallmann syndrome 2.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
15 %
Osteoglophonic dysplasia.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer syndrome.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
15 %
Trigonocephaly 1.

By MedGene in Slovakia.

FGFR1
Specificity
100 %
Genes
15 %
Invitae Craniosynostosis Panel.

By Invitae in United States.

ERF, MEGF8, GLI3, TWIST1, MSX2, RAB23, FGFR1, FGFR2, FGFR3
Specificity
12 %
Genes
15 %
Invitae Isolated Gonadotropin-Releasing Hormone Deficiency Panel.

By Invitae in United States.

ANOS1, FGFR1, CHD7
Specificity
34 %
Genes
15 %
Craniosynostosis: FGFR1 gene (exon 7), FGFR2 gene (exon 7) and FGFR3 gene (exons 6, 8) sequence analysis.

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

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
15 %
Pfeiffer syndrome: FGFR1 gene (exon 7) and FGFR2 gene (exons 7-8, 13-15) screening.

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

FGFR1, FGFR2
Specificity
50 %
Genes
15 %
Kallmann syndrome type 2: FGFR1 gene sequence analysis.

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

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer type 1, Syndrome: FGFR1 gene sequence analysis.

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

FGFR1
Specificity
100 %
Genes
15 %
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
15 %
FGFR1 - Mutation-specific testing.

By Genome Diagnostics VU University Medical Center in Netherlands.

FGFR1
Specificity
100 %
Genes
15 %
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
2 %
Genes
15 %
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
1 %
Genes
15 %
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
2 %
Genes
15 %
FGFR-Related Craniosynostosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
15 %
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
1 %
Genes
15 %
FGFR1.

By Fulgent Genetics Fulgent Genetics in United States.

FGFR1
Specificity
100 %
Genes
15 %
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
15 %
Holoprosencephaly Panel.

By Blueprint Genetics in Finland.

GLI3, GLI2, CDON, FOXH1, NODAL, ZIC2, TGIF1, SIX3, FGF8, FGFR1, PTCH1, SHH
Specificity
9 %
Genes
15 %
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
3 %
Genes
15 %
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
15 %
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
15 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel.

By Insight Medical Genetics in United States.

PAM16, INPPL1, ROR2, ESCO2, DYNC2H1, EVC2, EVC, IFT80, SERPINH1, WNT1, BMP1, TMEM38B, SOX9, TWIST1, COL11A1, FGFR1, SLC26A2, PEX7, FGFR2, FGFR3 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
15 %
FGFR1 amplification FISH.

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

FGFR1
Specificity
100 %
Genes
15 %
Focus::Renal® NGS Panel.

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

RHEB, HIF1A, PBRM1, EPHB4, ROS1, AXL, SMO, ERBB2, PDGFRB, AKT1, ABL1, EGFR, FLT3, AKT2, PIK3CA, BAP1, KIT, ARID1A, MTOR, KDM5C , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
15 %
Kallman syndrome, type 2.

By Bioarray in Spain.

FGFR1
Specificity
100 %
Genes
15 %
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
15 %
CNS Tumor Gene Set.

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

H3F3A, KLF4, TRAF7, HIST1H3B, DAXX, FUBP1, MYB, MYBL1, CIC, MYC, SMO, MN1, ERBB2, NTRK2, PIK3R1, AKT1, IDH1, PDGFRA, EGFR, PIK3CA , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
15 %
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
15 %
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
15 %
Gynecologic Tumors Gene Set.

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

ERBB4, PPP2R1A, FAT1, SMO, ERBB2, CDK12, CCND1, KDR, PIK3R1, AKT1, AKT3, PIK3R2, POLE, FBXW7, ABL1, EGFR, AKT2, POLD1, PIK3CA, JAK3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
15 %
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
15 %
FGFR1 Gene Sequencing and Deletion/Duplication Analysis.

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

FGFR1
Specificity
100 %
Genes
15 %
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
15 %
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
15 %
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
15 %
Circulo Breast.

By Circulogene Theranostics in United States.

FGFR1
Specificity
100 %
Genes
15 %
CRANIOSYNOSTOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR1, FGFR2, FGFR3
Specificity
34 %
Genes
15 %
PFEIFFER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FGFR1, FGFR2
Specificity
50 %
Genes
15 %
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
15 %
Kallmann Syndrome Type 2, Sequencing FGFR1 Gene.

By Reference Laboratory Genetics in Spain.

FGFR1
Specificity
100 %
Genes
15 %
Kallmann Type 2 Syndrome , Deletions-Duplications (MLPA) FGFR1 Gene.

By Reference Laboratory Genetics in Spain.

FGFR1
Specificity
100 %
Genes
15 %
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
15 %
Jackson-Weiss syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR1, FGFR2
Specificity
50 %
Genes
15 %
Kallmann syndrome 2.

By Labor Dr. Wisplinghoff in Germany.

FGFR1
Specificity
100 %
Genes
15 %
Pfeiffer syndrome.

By Labor Dr. Wisplinghoff in Germany.

FGFR1, FGFR2
Specificity
50 %
Genes
15 %
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
15 %
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
15 %
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
15 %
Hartsfield Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FGFR1
Specificity
100 %
Genes
15 %
Leber Congential Amaurosis Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
6 %
Genes
15 %
OTX2 Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OTX2
Specificity
100 %
Genes
15 %
OTX2 Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OTX2
Specificity
100 %
Genes
15 %
OTX2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

OTX2
Specificity
100 %
Genes
15 %
Leber Congenital Amaurosis Panel.

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

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
15 %
Macular Degeneration Panel.

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

CHST6, HMCN1, CDH3, IMPG1, DRAM2, CTNNA1, RAX2, MFSD8, EFEMP1, TIMP3, C1QTNF5, FSCN2, IMPG2, RP1L1, GUCA1B, PROM1, RPGR, PRPH2, CNGB3, OTX2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
15 %
Microphthalmia, Pituitary Hormone Deficiency, Retinal Dystrophy - OTX2 Sequencing.

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

OTX2
Specificity
100 %
Genes
15 %
Microphthalmia, syndromic 5.

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

OTX2
Specificity
100 %
Genes
15 %
OTX2 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

OTX2
Specificity
100 %
Genes
15 %
Pituitary hormone deficiency, combined 6 (sequence analysis of OTX2 gene).

By CGC Genetics in Portugal.

OTX2
Specificity
100 %
Genes
15 %
Leber congenital amaurosis (NGS panel for 20 genes).

By CGC Genetics in Portugal.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
5 %
Genes
15 %
Microphthalmia (sequence analysais of OTX2 gene).

By CGC Genetics in Portugal.

OTX2
Specificity
100 %
Genes
15 %
Syndromic Microphthalmia via the OTX2 Gene.

By PreventionGenetics PreventionGenetics in United States.

OTX2
Specificity
100 %
Genes
15 %
Agnathia-Otocephaly Complex Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PRRX1, OTX2
Specificity
50 %
Genes
15 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DTHD1, PDE6H, NMNAT1, CNGA3, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, GNAT2, MERTK, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
15 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
15 %
Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NMNAT1, NR2E3, RDH5, PRPF8, EYS, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, PCARE, CNGA1, PDE6A, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RHO , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
15 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
15 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
15 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

IFT140, GDF6, CLUAP1, DTHD1, NMNAT1, ROM1, RDH5, ALMS1, CNGA3, MYO7A, LCA5, IQCB1, SNRNP200, CABP4, RD3, RDH12, LRAT, MERTK, CRB1, CRX , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
15 %
OTX2.

By MGZ Medical Genetics Center in Germany.

OTX2
Specificity
100 %
Genes
15 %
Microphthalmia syndromic type 4.

By Centogene AG - the Rare Disease Company in Germany.

OTX2
Specificity
100 %
Genes
15 %
Leber Congenital Amaurosis Panel.

By CeGaT GmbH in Germany.

NMNAT1, RDH5, LCA5, IQCB1, RD3, RDH12, LRAT, MERTK, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
5 %
Genes
15 %
Single gene testing OTX2.

By CeGaT GmbH in Germany.

OTX2
Specificity
100 %
Genes
15 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
15 %
Leber congenital amaurosis panel.

By Molecular Vision Laboratory in United States.

IFT140, GDF6, DTHD1, NMNAT1, LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
15 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
15 %
Invitae Leber Congenital Amaurosis Panel.

By Invitae in United States.

GDF6, NMNAT1, LCA5, IQCB1, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, TULP1, PRPH2, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
6 %
Genes
15 %
Leber Congenital Amaurosis: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

LCA5, IQCB1, CABP4, RD3, RDH12, LRAT, CRB1, CRX, GUCY2D, IMPDH1, RPE65, RPGRIP1, TULP1, CEP290, KCNJ13, OTX2, SPATA7, AIPL1
Specificity
6 %
Genes
15 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

C8orf37-AS1, RGS9BP, PLA2G5, VCAN, CDH15, RBP4, GPR179, LRIT3, CNNM4, PDE6H, RAX2, UNC119, COL11A2, COL11A1, COL9A2, COL9A1, OFD1, ROM1, RBP3, PRPF3 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
15 %
OTX2.

By Fulgent Genetics Fulgent Genetics in United States.

OTX2
Specificity
100 %
Genes
15 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
15 %
OTX2 Gene Sequencing and Deletion/Duplication Analysis.

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

OTX2
Specificity
100 %
Genes
15 %
Septo-Optic Dysplasia , Sequencing OTX2 Gene.

By Reference Laboratory Genetics in Spain.

OTX2
Specificity
100 %
Genes
15 %
NGS XLID Panel.

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

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

View the complete list with 94 more genes
Specificity
1 %
Genes
15 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

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

View the complete list with 68 more genes
Specificity
2 %
Genes
15 %
X-linked Intellectual Disabilities Sequencing.

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

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

View the complete list with 68 more genes
Specificity
2 %
Genes
15 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

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

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

View the complete list with 67 more genes
Specificity
2 %
Genes
15 %
SOX3. Complete sequencing Secuenciación completa.

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

SOX3
Specificity
100 %
Genes
15 %
Panhypopituitarism, X-linked (sequence analysis of SOX3 gene).

By CGC Genetics in Portugal.

SOX3
Specificity
100 %
Genes
15 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

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

View the complete list with 69 more genes
Specificity
2 %
Genes
15 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TBCE, FAM111A, GCM2, PTH, STX16, AP2S1, GNA11, GNAS, SOX3, PTH1R, GATA3, CASR, AIRE, HADHB, HADHA
Specificity
7 %
Genes
15 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 108 more genes
Specificity
1 %
Genes
15 %
X-Linked Hypoparathyroidism via the Interstitial Deletion-Insertion Involving Chromosomes 2p25.3 and Xq27.1, Near SOX3.

By PreventionGenetics PreventionGenetics in United States.

SOX3
Specificity
100 %
Genes
15 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

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

View the complete list with 93 more genes
Specificity
1 %
Genes
15 %
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
15 %
46XX sex reversal 1.

By Centogene AG - the Rare Disease Company in Germany.

SOX3
Specificity
100 %
Genes
15 %
Panhypopituitarism, X-linked.

By Centogene AG - the Rare Disease Company in Germany.

SOX3
Specificity
100 %
Genes
15 %
Mental retardation, X-linked, with isolated growth hormone deficiency.

By Centogene AG - the Rare Disease Company in Germany.

SOX3
Specificity
100 %
Genes
15 %
Single gene testing SOX3.

By CeGaT GmbH in Germany.

SOX3
Specificity
100 %
Genes
15 %
qGenEx Sex development disorders.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

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

View the complete list with 28 more genes
Specificity
3 %
Genes
15 %
Morsier syndrome: SOX3 gene sequence analysis.

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

SOX3
Specificity
100 %
Genes
15 %
XLMR with Growth Hormone Deficiency: SOX3 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SOX3
Specificity
100 %
Genes
15 %
XLMR with Growth Hormone Deficiency: SOX3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SOX3
Specificity
100 %
Genes
15 %
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

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

View the complete list with 71 more genes
Specificity
2 %
Genes
15 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

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

View the complete list with 87 more genes
Specificity
1 %
Genes
15 %
SOX3.

By Fulgent Genetics Fulgent Genetics in United States.

SOX3
Specificity
100 %
Genes
15 %
X-chromosome High Resolution microarray analysis.

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

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

View the complete list with 140 more genes
Specificity
1 %
Genes
15 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

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

View the complete list with 79 more genes
Specificity
2 %
Genes
15 %
Mental retardation with panhypopituitarism, X-linked.

By Bioarray in Spain.

SOX3
Specificity
100 %
Genes
15 %
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency , Sequencing SOX3 Gene.

By Reference Laboratory Genetics in Spain.

SOX3
Specificity
100 %
Genes
15 %

Alternate names

Septo-optic Dysplasia Spectrum Is also known as de morsier syndrome; sod; septo-optic dysplasia.



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other rare diseases that you may find interesting

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME