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 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

Telomere Disorders Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3018
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Telomere Biology Disorders Panel

Invitae
United States
2213
  • D Deletion/duplication analysis

Invitae Surfactant Metabolism Panel

Invitae
United States
4019
  • D Deletion/duplication analysis

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

Invitae Phagocytic Disorders Including Neutropenia Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neonatal Respiratory Distress Panel

Invitae
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, Part of Exact Sciences
United States
268187
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis congenita, autosomal dominant 1, 127550, Autosomal dominant; DKCA1 (Dyskeratosis congenita) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skin and Connective Tissue Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pediatric Cancer Panel

PreventionGenetics, Part of Exact Sciences
United States
7864
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dyskeratosis Congenita (DC) via the TERC Gene

PreventionGenetics, Part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TERT/TERC gene sequence and deletion/duplication

Ambry Genetics
United States
62
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCNext™

Ambry Genetics
United States
127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Interstitial Lung Disease Panel

PreventionGenetics, Part of Exact Sciences
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel

Invitae
United States
7632
  • D Deletion/duplication analysis

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13885
  • D Deletion/duplication analysis

Results: 1 to 20 of 49

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.