Albinism, Ocular, With Sensorineural Deafness

Clinical Features

Top most frequent phenotypes and symptoms related to Albinism, Ocular, With Sensorineural Deafness

  • Pica
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment
  • Reduced visual acuity
  • Photophobia
  • Hypermetropia
  • Falls
And another 12 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Albinism, Ocular, With Sensorineural Deafness Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Hearing Loss Panel.

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

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
50 %
Waardenburg Syndrome Type 2.

By Center for Human Genetics, Inc in United States.

MITF
Specificity
100 %
Genes
50 %
Waardenburg Syndrome Type 2A - MITF Sequencing.

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

MITF
Specificity
100 %
Genes
50 %
Waardenburg Syndrome, Type 2 - MITF Gene.

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

MITF
Specificity
100 %
Genes
50 %
OtoSCOPE.

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

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Inherited Cancer Panel.

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

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Hearing Loss Panel.

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

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, GPC3, MITF
Specificity
6 %
Genes
50 %
MITF germline mutation.

By Service de Génétique Gustave Roussy in France.

MITF
Specificity
100 %
Genes
50 %
OtoGenome Test for Hearing Loss (110 Genes).

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

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Renal Cancer Panel.

By GeneDx in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
Genes
50 %
Hereditary Cancer Panel - Renal19.

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

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF
Specificity
6 %
Genes
50 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
50 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
50 %
MelanomaNext.

By Ambry Genetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1
Specificity
13 %
Genes
50 %
MITF. Complete sequencing.

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

MITF
Specificity
100 %
Genes
50 %
MITF. Complete sequencing.

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

MITF
Specificity
100 %
Genes
50 %
MITF. Complete sequencing.

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

MITF
Specificity
100 %
Genes
50 %
Waardenburg Seq + Del/Dup Analysis.

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

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Waardenburg Del/Dup Panel.

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

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Waardenburg Seq Analysis.

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

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Audiome (hearing loss panel).

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

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Albinism (NGS panel for 12 genes).

By CGC Genetics in Portugal.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
17 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
2 %
Genes
100 %
Waardenburg syndrome type 2 (sequence analysis of MITF gene).

By CGC Genetics in Portugal.

MITF
Specificity
100 %
Genes
50 %
Microphthalmia (NGS panel for 26 genes).

By CGC Genetics in Portugal.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, MITF, GDF6, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Waardenburg syndrome (NGS panel of 7 genes).

By CGC Genetics in Portugal.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
29 %
Genes
100 %
Waardenburg syndrome (NGS panel of 7 genes).

By CGC Genetics in Portugal.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
29 %
Genes
100 %
Oculocutaneous Albinism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
16 %
Genes
100 %
Waardenburg Syndrome Type IIA via MITF Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MITF
Specificity
100 %
Genes
50 %
Waardenburg Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Anophthalmia / Microphthalmia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAX, OTX2, STRA6, HCCS, BCOR, SIX6, SOX2, MITF, GDF6, FOXE3, VSX2, CRYBA4, BMP4, TENM3, ALDH1A3, SMOC1, BMP7
Specificity
6 %
Genes
50 %
Renal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CHEK2, CDC73 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Melanoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, CHEK2, MITF, BAP1, POT1
Specificity
10 %
Genes
50 %
Hypopigmentation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
100 %
Waardenburg syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
29 %
Genes
100 %
Waardenburg syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
29 %
Genes
100 %
Waardenburg syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TYR, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
29 %
Genes
100 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
50 %
Familial Melanoma panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

MC1R, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
17 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Waardenburg Syndrome Type IIA.

By Bioscientia GmbH Center for Human Genetics in Germany.

MITF
Specificity
100 %
Genes
50 %
Waardenburg syndrome/albinism.

By Centogene AG - the Rare Disease Company in Germany.

MITF
Specificity
100 %
Genes
50 %
Melanoma, cutaneous malignant.

By Centogene AG - the Rare Disease Company in Germany.

MITF
Specificity
100 %
Genes
50 %
Microphthalmia panel.

By Centogene AG - the Rare Disease Company in Germany.

RAX, OTX2, STRA6, HCCS, BCOR, SIX6, SOX2, MITF, VSX2, BMP4, TENM3, ALDH1A3, TENM1
Specificity
8 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Albinism.

By Centogene AG - the Rare Disease Company in Germany.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
20 %
Genes
100 %
Tietz albinism-deafness syndrome.

By Centogene AG - the Rare Disease Company in Germany.

MITF
Specificity
100 %
Genes
50 %
Waardenburg syndrome, Type 2A.

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

MITF
Specificity
100 %
Genes
50 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Familial melanoma Panel.

By CeGaT GmbH in Germany.

PTEN, RB1, MC1R, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
13 %
Genes
50 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH in Germany.

HFE, KRT5, ABCB6, BLM, PTPN11, NF2, STK11, NF1, EDN3, PAX3, EDNRB, SNAI2, SOX10, SPRED1, MITF, LYST, ADAR, KIT, KITLG, MYO5A , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Renal cell carcinoma Panel.

By CeGaT GmbH in Germany.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, SDHAF2, HNF1B, SDHC, FH, SDHB, SDHA, TSC2, TSC1, PALB2, SDHD , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Single gene testing MITF.

By CeGaT GmbH in Germany.

MITF
Specificity
100 %
Genes
50 %
Waardenburg Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel.

By Molecular Vision Laboratory in United States.

TYRP1, OCA2, SLC45A2, RET, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF , (...)

View the complete list with 9 more genes
Specificity
7 %
Genes
100 %
Waardenburg Syndrome panel.

By Molecular Vision Laboratory in United States.

RET, EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
15 %
Genes
50 %
MITF Gene Sequencing.

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

MITF
Specificity
100 %
Genes
50 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
50 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, TSC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
50 %
Invitae Melanoma Panel.

By Invitae in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
12 %
Genes
50 %
Waardenburg, Syndrome.

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

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Albinism.

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

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
19 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
50 %
Albinism NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LYST, MYO5A, RAB27A
Specificity
20 %
Genes
100 %
Waardenburg Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Melanoma NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, PTEN, TP53, RB1, MC1R, TYR, CDK4, CDKN2A, ERCC3, MITF, TERT, WRN
Specificity
16 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
2 %
Genes
100 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
50 %
Kidney Renal Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
Genes
50 %
Renal/Kidney NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
MITF.

By Fulgent Genetics Fulgent Genetics in United States.

MITF
Specificity
100 %
Genes
50 %
Melanoma Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, CHEK2, MITF, BAP1
Specificity
12 %
Genes
50 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
2 %
Genes
100 %
Renal / Urinary Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
100 %
Hirschsprung Disease Panel.

By Blueprint Genetics in Finland.

RET, RMRP, PHOX2B, L1CAM, KIF1BP, ZEB2, EDN3, PAX3, EDNRB, SOX10, MITF, BDNF, NRTN, NRG1, CELSR3
Specificity
7 %
Genes
50 %
Albinism Panel.

By Blueprint Genetics in Finland.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, MITF, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
50 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
3 %
Genes
100 %
Waardenburg Syndrome Panel.

By Blueprint Genetics in Finland.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF, KIT
Specificity
15 %
Genes
50 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
Hereditary Melanoma and Skin Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, PTEN, TP53, PTCH1, SUFU, CDK4, CDKN2A, ERCC2, ERCC3, MITF, BAP1, ERCC4, POT1, WRN, ERCC5, XPA, XPC, DDB2
Specificity
6 %
Genes
50 %
Waardenburg syndrome type 2.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
50 %
Ocular albinism with congenital sensorineural deafness.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
50 %
Tietz syndrome.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
50 %
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS.

By Bioarray in Spain.

MITF
Specificity
100 %
Genes
50 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
50 %
NeoTYPE® Discovery Profile for Solid Tumors.

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

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
50 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Hereditary Cancer.

By Color Genomics, Inc. Color Genomics, Inc. in United States.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDKN2A, CHEK2, BMPR1A, SMAD4 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
50 %
ALBINISM: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, HPS6, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
16 %
Genes
100 %
WAARDENBURG SYNDROME TYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

SNAI2, SOX10, MITF
Specificity
34 %
Genes
50 %
Albinisim panel.

By LifeLabs Genetics in Canada.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, LRMDA, LYST, MYO5A, RAB27A
Specificity
19 %
Genes
100 %
Tietz Syndrome, Sequencing MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
50 %
Ocular Albinism with Late Sensory Deafness, Sequencing MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
50 %
Waardenburg Syndrome Type II , Sequencing MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
50 %
Waardenburg Syndrome Type 2A , Deletions-Duplications (MLPA) MITF Gene.

By Reference Laboratory Genetics in Spain.

MITF
Specificity
100 %
Genes
50 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, HNF1B, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

EDN3, PAX3, EDNRB, SNAI2, SOX10, MITF
Specificity
17 %
Genes
50 %
Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, PTEN, TP53, RB1, MC1R, CDK4, CDKN2A, MITF, TERT, BAP1
Specificity
10 %
Genes
50 %
Albinism , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, MITF, SLC24A5, LRMDA, LYST, MYO5A, RAB27A
Specificity
17 %
Genes
100 %
Microphthalmia , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

RAX, ABCB6, OTX2, STRA6, HCCS, BCOR, SIX6, SOX2, MITF, GDF6, VAX1, VSX2, BMP4, GDF3
Specificity
8 %
Genes
50 %
Phosphorus Melanoma Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA2, PTEN, TP53, RB1, CDK4, CDKN2A, MITF, BAP1, POT1
Specificity
12 %
Genes
50 %
Phosphorus Renal/Urinary Tract Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
50 %
Phosphorus Common/High Risk Cancers Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A, CHEK2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
50 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
TYR Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TYR
Specificity
100 %
Genes
50 %
TYR Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories in United States.

TYR
Specificity
100 %
Genes
50 %
TYR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

TYR
Specificity
100 %
Genes
50 %
Ocular Albinism and Hermansky Pudlak Panel.

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

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, DTNBP1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST
Specificity
6 %
Genes
50 %
Oculocutaneous Albinism, Type 1 - TYR Sequencing.

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

TYR
Specificity
100 %
Genes
50 %
Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel.

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

TYRP1, OCA2, SLC45A2, TYR, SLC24A5, LRMDA
Specificity
17 %
Genes
50 %
Oculocutaneous albinism type 1.

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

TYR
Specificity
100 %
Genes
50 %
Albinism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A, RAB27A, MLPH
Specificity
5 %
Genes
50 %
Albinism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST, MYO5A, RAB27A, MLPH
Specificity
5 %
Genes
50 %
TYR.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TYR
Specificity
100 %
Genes
50 %
TYR mutation analysis.

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

TYR
Specificity
100 %
Genes
50 %
TYR. Complete sequencing.

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

TYR
Specificity
100 %
Genes
50 %
Albinism, oculocutaneous type IB (deletion/duplication analysis of TYR gene).

By CGC Genetics in Portugal.

TYR
Specificity
100 %
Genes
50 %
Albinism, oculocutaneous type I (sequence analysis of TYR gene).

By CGC Genetics in Portugal.

TYR
Specificity
100 %
Genes
50 %
Oculocutaneous Albinism Type 1 (OCAI) via the TYR Gene.

By PreventionGenetics PreventionGenetics in United States.

TYR
Specificity
100 %
Genes
50 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
50 %
Ocular / Oculocutaneous Albinism.

By MGZ Medical Genetics Center in Germany.

TYRP1, OCA2, SLC45A2, TYR, GPR143, FRMD7, SLC24A5, LRMDA, SLC38A8
Specificity
12 %
Genes
50 %
Albinism.

By GeneTech ATS GeneTech Private Limited in India.

TYR
Specificity
100 %
Genes
50 %
Waardenburg syndrome/albinism.

By Centogene AG - the Rare Disease Company in Germany.

TYR
Specificity
100 %
Genes
50 %
Albinism, oculocutaneous type 1A.

By Centogene AG - the Rare Disease Company in Germany.

TYR
Specificity
100 %
Genes
50 %
Albinism, oculocutaneous type 1B.

By Centogene AG - the Rare Disease Company in Germany.

TYR
Specificity
100 %
Genes
50 %
Albinism Panel.

By CeGaT GmbH in Germany.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, LRMDA, LYST
Specificity
13 %
Genes
50 %
Albinism Panel.

By CeGaT GmbH in Germany.

TYRP1, OCA2, SLC45A2, MC1R, TYR, GPR143, SLC24A5, LRMDA, LYST
Specificity
12 %
Genes
50 %
Single gene testing TYR.

By CeGaT GmbH in Germany.

TYR
Specificity
100 %
Genes
50 %
Oculocutaneous Albinism.

By Asper Biogene Asper Biogene LLC in Estonia.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, SLC24A5, LRMDA, BLOC1S6, LYST
Specificity
6 %
Genes
50 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Albinism, oculocutaneous IA.

By Praxis fuer Humangenetik Wien in Austria.

TYR
Specificity
100 %
Genes
50 %
Albinism, oculocutaneous IB.

By Praxis fuer Humangenetik Wien in Austria.

TYR
Specificity
100 %
Genes
50 %
Waardenburg syndrome/albinism.

By Praxis fuer Humangenetik Wien in Austria.

TYR
Specificity
100 %
Genes
50 %
TYR gene sequencing.

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

TYR
Specificity
100 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
50 %
Albinism, oculocutaneous IA.

By MedGene in Slovakia.

TYR
Specificity
100 %
Genes
50 %
Albinism, oculocutaneous IB.

By MedGene in Slovakia.

TYR
Specificity
100 %
Genes
50 %
Waardenburg syndrome/albinism.

By MedGene in Slovakia.

TYR
Specificity
100 %
Genes
50 %
Oculocutaneous albinism type 1: TYR gene sequence analysis.

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

TYR
Specificity
100 %
Genes
50 %
Albinism: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TYRP1, OCA2, SLC45A2, TYR, GPR143, SLC24A5, LRMDA
Specificity
15 %
Genes
50 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
50 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
50 %
Albinism: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TYRP1, OCA2, SLC45A2, TYR, GPR143, SLC24A5, LRMDA
Specificity
15 %
Genes
50 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
TYR.

By Fulgent Genetics Fulgent Genetics in United States.

TYR
Specificity
100 %
Genes
50 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
50 %
Hermansky-Pudlak Syndrome Panel.

By Blueprint Genetics in Finland.

TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, DKC1, BLOC1S6, LYST, TERC, TERT, ABCA3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
Oculocutaneous albinism type 1.

By Bioarray in Spain.

TYR
Specificity
100 %
Genes
50 %
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2.

By Bioarray in Spain.

TYR
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
OCULOCUTANEOUS ALBINISM.

By Laboratorio de Genetica Clinica SL in Spain.

TYRP1, OCA2, SLC45A2, TYR, SLC24A5, LRMDA
Specificity
17 %
Genes
50 %
OCULOCUTANEOUS ALBINISM (OCA).

By Laboratorio de Genetica Clinica SL in Spain.

TYRP1, OCA2, SLC45A2, TYR
Specificity
25 %
Genes
50 %
Oculotaneous Albinism Type 1A , Sequencing TYR Gene.

By Reference Laboratory Genetics in Spain.

TYR
Specificity
100 %
Genes
50 %
Oculotaneous Albinism Type 1B , Sequencing TYR Gene.

By Reference Laboratory Genetics in Spain.

TYR
Specificity
100 %
Genes
50 %
Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

TYRP1, OCA2, SLC45A2, MC1R, TYR, SLC24A5, LRMDA
Specificity
15 %
Genes
50 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Oculocutaneous Albinism Type 1: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TYR
Specificity
100 %
Genes
50 %

Alternate names

Albinism, Ocular, With Sensorineural Deafness Is also known as waardenburg syndrome, type 2, with ocular albinism, autosomal recessive;ws2-oa;waardenburg syndrome type 2 with ocular albinism.



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