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Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

VWD-Complete Genetic Panel (2 Day STAT TAT)

Machaon Diagnostics
United States
41
  • C Sequence analysis of the entire coding region

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
755562
  • 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
250155
  • C Sequence analysis of the entire coding region

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

von Willebrand disease, platelet-type, 177820, Autosomal dominant; VWDP (Pseudo-von Willebrand disease) (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

Platelet Function Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Thrombocytopenia Panel

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

Bernard-Soulier Syndrome Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
23
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

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

Bleeding disorder (platelet-type): Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2320
  • C Sequence analysis 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

Results: 1 to 20 of 37

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.