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Results: 1 to 20 of 31

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
124129
  • E Sequence analysis of select exons

PAX3 Gene sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
31
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome, Type 1 and 3 - PAX 3 Gene

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • C Sequence analysis of the entire coding region

Waardenburg syndrome Deletion / Duplication panel

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

Waardenburg syndrome Comprehensive panel

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

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

Waardenburg Syndrome Sequencing Panel with CNV Detection

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

PAX3. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

PAX3. MLPA testing

Instituto de Medicina Genomica
Spain
41
  • D Deletion/duplication analysis

Waardenburg Syndrome Types I and III via PAX3 Gene Sequencing with CNV Detection

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg Syndrome Type I, 3 - PAX3 Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
31
  • C Sequence analysis of the entire coding region

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
251184
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
86
  • C Sequence analysis of the entire coding region

Waardenburg syndrome (NGS panel of 7 genes)

CGC Genetics
Portugal
77
  • C Sequence analysis of the entire coding region

Waardenburg syndrome (NGS panel of 7 genes)

CGC Genetics
Portugal
77
  • C Sequence analysis of the entire coding region

Audiome (hearing loss panel)

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
117106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg Syndrome panel

Molecular Vision Laboratory
United States
197
  • C Sequence analysis of the entire coding region

NGS Hearing Loss Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11091
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 31

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.

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