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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia

BloodGenetics
Spain
1211
  • C Sequence analysis of the entire coding region

GFI1B - 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

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
249155
  • C Sequence analysis of the entire coding region

Bleeding disorder, platelet-type, 17, 187900, Autosomal dominant; BDPLT17 (Gray platelet syndrome) (GFI1B 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

Platelet bleeding disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Platelet bleeding disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet bleeding disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3134
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia via the GFI1B Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

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

Thrombocytopenia panel. 34-gene NGS panel.

Genologica Medica
Spain
5334
  • 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
8066
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GFI1B 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

GFI1B - Genetic Analysis

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

Comprehensive Platelet Disorder Panel

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

Results: 1 to 20 of 27

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.