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Results: 1 to 20 of 41 (representing 25 labs)

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

Rapid microarray (CGH and SNP)

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

Waardenburg syndrome, type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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 Panel (6 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
86
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Waardenburg syndrome Sequencing Panel

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

OtoGenome Test for Hearing Loss (87 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
11286
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Waardenburg Syndrome Types I and III via the PAX3 Gene

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

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

Waardenburg Syndrome , Deletions-Duplications (MLPA) PAX3, MITF, SOX10 Genes

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Waardenburg Syndrome , Sequencing PAX3 Gene

Reference Laboratory Genetics
Spain
11
  • 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 Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
76
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 41

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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