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Results: 1 to 20 of 28 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Thrombocytopenia and absent radius syndrome - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia and absent radius syndrome (TAR) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Thrombocytopenia and absent radius syndrome (TAR) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Thromocytopenia-Absent-Radius-Syndrome

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

Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene - Sequencing and 1q21.1 Deletion

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

Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A 1q21.1 Deletion

PreventionGenetics
United States
11
  • D Deletion/duplication analysis

Thrombocytopenia Absent Radius (TAR) Syndrome via the RBM8A Gene

PreventionGenetics
United States
11
  • 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

Inherited Bone Marrow Failure Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2861
  • C Sequence analysis of the entire coding region

TAR SYNDROME (THROMBOCYTOPENIA - ABSENT RADIUS)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

TAR Syndrome , Sequencing RBM8A Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Thrombocytopenia-Absent Radius Syndrome Test

Invitae
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thrombocytopenia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2843
  • C Sequence analysis of the entire coding region

aCGH Deletion/Duplication Analysis

BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin
United States
6065
  • D Deletion/duplication analysis

qChip

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

RBM8A Deletion/Duplication Analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

RBM8A Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 28

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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