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Results: 1 to 20 of 27

Tests names and labsConditionsGenes and analytesMethods

Epstein syndrome

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

Platelet bleeding disorders Comprehensive panel

Connective Tissue Gene Tests
United States
4532
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia Comprehensive Panel

Connective Tissue Gene Tests
United States
3326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Platelet bleeding disorders Deletion / Duplication panel

Connective Tissue Gene Tests
United States
4532
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia Deletion / Duplication Panel

Connective Tissue Gene Tests
United States
3326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet bleeding disorders NGS panel

Connective Tissue Gene Tests
United States
4532
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia NGS Panel

Connective Tissue Gene Tests
United States
3326
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia Sequencing Panel - Expanded

PreventionGenetics
United States
2925
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thrombocytopenia Sequencing Panel

PreventionGenetics
United States
1512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MYH9 -Related Disorders via the MYH9 Gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MYH9-related disorders

Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust
United Kingdom
51
  • C Sequence analysis of the entire coding region

HEREDITARY MACROTHROMBOCYTOPENIA (MAY-HEGGLIN/ FLECHTNER/ EPSTEIN SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
41
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MYH9 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
71
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MYH9 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
61
  • D Deletion/duplication analysis

Single gene testing MYH9

CeGaT GmbH
Germany
61
  • C Sequence analysis of the entire coding region

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set

Genomics and Pathology Services Washington University in St. Louis
United States
1134
  • C Sequence analysis of the entire coding region

MYH9 Sequence Analysis-Inherited

BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin
United States
61
  • C Sequence analysis of the entire coding region

MYH9

Fulgent Genetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epstein syndrome (sequence analysis of MYH9 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Hearing Loss: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15992
  • C Sequence analysis 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.

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