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Results: 1 to 20 of 25

Tests names and labsConditionsGenes, analytes, and microbesMethods

FYB1 - 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

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
249155
  • 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

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 NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
2528
  • 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

Hematological Malignancies Hereditary Panel 

CGC Genetics Unilabs
Portugal
1147
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Bleeding Disorders Panel 

CGC Genetics Unilabs
Portugal
1121
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Syndrome Panel 

CGC Genetics Unilabs
Portugal
1175
  • C Sequence analysis of the entire coding region

FYB1 - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
11
  • 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

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

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

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

FYB1 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

Results: 1 to 20 of 25

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.