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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
123129
  • E Sequence analysis of select exons

MVL Vision Panel

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

SNAI2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (SNAI2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (SNAI2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypopigmentation Panel

PreventionGenetics, part of Exact Sciences
United States
3933
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg Syndrome Type IID via the SNAI2 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg syndrome, type 2D (sequence analysis of SNAI2 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Waardenburg syndrome

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
76
  • C Sequence analysis of the entire coding region

Waardenburg syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
107
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.