U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 21 to 40 of 76

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
362227
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
14
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Next Generation Sequencing for Jaundice Associated Genes Variation Test

National Taiwan University Hospital A1 Center National Taiwan University Hospital
Taiwan
473
  • C Sequence analysis of the entire coding region

Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Deafness, Autosomal Dominant 51 (DFNA51) via the TJP2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Female)

Baylor Genetics
United States
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Panel (Male)

Baylor Genetics
United States
1382
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware™ Expanded Plus Panel (Female)

Baylor Genetics
United States
1446
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware™ Expanded Plus Panel (Male)

Baylor Genetics
United States
1401
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive familial intrahepatic cholestasis (WES based NGS panel of 5 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
15
  • C Sequence analysis of the entire coding region

Deafness or hypoacusis panel_v.2.0

CGC Genetics Unilabs
Portugal
1272
  • C Sequence analysis of the entire coding region

Hypercholanemia (sequence analysis of TJP2 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hypercholanemia (deletion/duplication analysis of TJP2 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Chronic Cholestatic Diseases Panel

Mendelics
Brazil
117
  • C Sequence analysis of the entire coding region

Hereditary Deafness Panel (Expanded)

Mendelics
Brazil
1104
  • C Sequence analysis of the entire coding region

Treatable Disorders Panel

Mendelics
Brazil
1369
  • C Sequence analysis of the entire coding region

CHOLESTASIS (PROGRESSIVE/NEONATAL FAMILIAL INTRAHEPATIC) EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
18
  • E Sequence analysis of select exons

Results: 21 to 40 of 76

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.