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Results: 1 to 20 of 148 (representing 67 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

Baby Genes Targeted Panel

Baby Genes Inc.
United States
8990
  • T Targeted variant analysis

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
124129
  • E Sequence analysis of select exons

Knuckle pads and leukonychia sensorineural deafness

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

Keratoderma, palmoplantar, with deafness

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

Keratitis ichthyosis deafness syndrome AD

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

Deafness with keratopachydermia and constrictions of fingers and toes

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

GJB2-Related Nonsyndromic Hearing Loss and Deafness

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Deafness, non-syndromic sensorineural AR panel

Centogene AG - the Rare Disease Company
Germany
4443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connexin 26

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

GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Molecular Genetics Laboratory London Health Sciences Centre
Canada
12
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

GJB2 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

GJB2 sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • C Sequence analysis of the entire coding region

GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Molecular Genetics Laboratory London Health Sciences Centre
Canada
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hearing Loss Panel

Molecular Diagnostics Children's Hospital of Wisconsin
United States
94
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel

PreventionGenetics
United States
300280
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GJB2 Sequencing, Full Gene

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

GJB2 Sequencing, Family-targeted (Single Exon Sequencing - Known Mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

Results: 1 to 20 of 148

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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