U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

MECOM - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Thrombocytopenia Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
2528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
2528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia Panel - Expanded

PreventionGenetics, part of Exact Sciences
United States
3233
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Bleeding Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
7879
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MECOM - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MECOM Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Comprehensive Platelet Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
6063
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Autosomal Dominant Thrombocytopenia Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
2222
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Results: 1 to 16 of 16

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.