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Results: 1 to 20 of 71

Tests names and labsConditionsGenes, analytes, and microbesMethods

Waardenburg Syndrome, Type 2 - MITF Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
11
  • C Sequence analysis of the entire coding region

MITF Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
21
  • C Sequence analysis of the entire coding region

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

Common Hereditary Cancer Screening Panel

PreventionGenetics
United States
9455
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MITF - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MITF - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Microphthalmia/Anophthalmia/Coloboma Panel

PreventionGenetics
United States
7355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg syndrome, type 2A, 193510, Autosomal dominant; WS2A (Waardenburg syndrome type 2) (MITF gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Waardenburg syndrome, type 2A, 193510, Autosomal dominant; WS2A (Waardenburg syndrome type 2) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Waardenburg syndrome, type 2A, 193510, Autosomal dominant; WS2A (Waardenburg syndrome type 2) (MITF gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Waardenburg syndrome, type 2A, 193510, Autosomal dominant; WS2A (Waardenburg syndrome type 2) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Results: 1 to 20 of 71

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.