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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
16571199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GJB2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7745
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

GJB2 Regulatory Element Deletion Testing (GJB6-D13S1830 and GJB6-D13S1854)

PreventionGenetics, part of Exact Sciences
United States
71
  • T Targeted variant analysis

Bart-Pumphrey syndrome, 149200, Autosomal dominant (Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome) (GJB2 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

Bart-Pumphrey syndrome, 149200, Autosomal dominant (Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome) (GJB2 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

Invitae Broad Carrier Screen without X-linked Disorders

Labcorp Genetics (formerly Invitae) LabCorp
United States
19598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Broad Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
362232
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14873
  • D Deletion/duplication analysis

GJB2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
71
  • T Targeted variant analysis

GJB2 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
71
  • T Targeted variant analysis

GJB2 Sequence Analysis

Baylor Genetics
United States
71
  • C Sequence analysis of the entire coding region

GJB2 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
71
  • D Deletion/duplication analysis

GJB2 Deletion/Duplication Analysis

Baylor Genetics
United States
71
  • D Deletion/duplication analysis

Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via the GJB2 Gene

PreventionGenetics, part of Exact Sciences
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Ichthyoses and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 43

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.