U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 20 of 29

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

ADGRV1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Usher Syndrome Panel

Invitae
United States
3217
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Febrile seizures, familial, 4, 604352, Autosomal dominant; FEB4 (Usher syndrome) (ADGRV1 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 Inherited Retinal Disorders Panel

Invitae
United States
486293
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
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
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
342268
  • C Sequence analysis of the entire coding region

GPR98 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • C Sequence analysis of the entire coding region

ADGRV1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
166120
  • C Sequence analysis of the entire coding region

Epilepsy Panel, Febrile

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
3517
  • C Sequence analysis of the entire coding region

Hearing Loss, Comprehensive Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
14284
  • C Sequence analysis of the entire coding region

Seizures, familial febrile: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
85
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Retinopathy and Optic Atrophy NGS Panel

Fulgent Genetics
United States
563241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders

Athena Diagnostics Inc
United States
3031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics Inc
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.