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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

GP1BA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

Invitae
United States
7050
  • D Deletion/duplication analysis

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
249155
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
266186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bernard-Soulier syndrome, type A2 (dominant), 153670, Autosomal dominant; BSSA2 (Bernard-Soulier syndrome) (GP1BA 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

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

Thrombocytopenia Panel

PreventionGenetics, part of Exact Sciences
United States
1313
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bernard-Soulier Syndrome via the GP1BA 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

Thrombocytopenia panel. 34-gene NGS panel.

Genologica Medica
Spain
5334
  • C Sequence analysis of the entire coding region

Platelet function disorder panel. NGS panel of 21 genes.

Genologica Medica
Spain
2321
  • C Sequence analysis of the entire coding region

Bleeding disorder / coagulopathy panel. NGS panel of 62 genes.

Genologica Medica
Spain
9662
  • C Sequence analysis of the entire coding region

Bernard-Soulier syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
43
  • C Sequence analysis of the entire coding region

Bernard Soulier Syndrome type A

Duzen Laboratories Duzen BBAGUAS
Turkey
21
  • C Sequence analysis of the entire coding region

Comprehensive Bleeding Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
8050
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GP1BA Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • D Deletion/duplication analysis

Autosomal Dominant Thrombocytopenia Panel

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

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet Disorder NGS Panel

Fulgent Genetics
United States
7444
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel

Fulgent Genetics
United States
14682
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.