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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel

Otogenetics
United States
123129
  • E Sequence analysis of select exons

GJB3 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GJB3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Invitae
United States
7745
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Deafness, autosomal dominant 2B, 612644, Autosomal dominant (Autosomal dominant non-syndromic sensorineural deafness type DFNA) (MLPA)

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

Deafness, autosomal dominant 2B, 612644, Autosomal dominant (Autosomal dominant non-syndromic sensorineural deafness type DFNA) (GJB3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

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

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics
United States
356209
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene

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

GJB3. Complete sequencing

IGENOMIX
Spain
31
  • C Sequence analysis of the entire coding region

Autosomal Dominant Hearing Loss. 25-gene NGS panel.

Genologica Medica
Spain
4823
  • C Sequence analysis of the entire coding region

Ichthyosis panel. 31-gene NGS panel.

Genologica Medica
Spain
5831
  • C Sequence analysis of the entire coding region

Non-syndromic hearing loss panel. 95-gene NGS panel.

Genologica Medica
Spain
14694
  • C Sequence analysis of the entire coding region

Autosomal recessive hearing loss. 41-gene NGS panel.

Genologica Medica
Spain
6541
  • C Sequence analysis of the entire coding region

Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis)

Unilabs Genetics CGC Genetics
Portugal
9057
  • C Sequence analysis of the entire coding region

Congenital deafness (deletion/duplication analysis on GJB2, GJB6, GJB3, POU3F4 and WFS1 genes)

Unilabs Genetics CGC Genetics
Portugal
185
  • D Deletion/duplication analysis

Palmoplantar keratoderma and erythrokeratodermia (WES based NGS panel for 44 genes, including CNV analysis)

Unilabs Genetics CGC Genetics
Portugal
9144
  • C Sequence analysis of the entire coding region

Congenital deafness (sequence analysis of GJB3 gene)

Unilabs Genetics CGC Genetics
Portugal
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.