U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

HMOX1 - NGS including CNV analysis

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

MMP1 - NGS including CNV analysis

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

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • 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 Hereditary Hemolytic Anemia Panel

Invitae
United States
7439
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen

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

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Cholestasis panel. NGS panel of 46 genes.

Genologica Medica
Spain
8846
  • C Sequence analysis of the entire coding region

Complete panel of pulmonology. NGS panel of 66 genes.

Genologica Medica
Spain
11566
  • C Sequence analysis of the entire coding region

Metabolic liver failure panel. 16-gene NGS panel.

Genologica Medica
Spain
1916
  • C Sequence analysis of the entire coding region

Cystic lung disease panel. 8-gene NGS panel.

Genologica Medica
Spain
178
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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.