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Results: 61 to 71 of 71

Tests names and labsConditionsGenes, analytes, and microbesMethods

Thrombocytopenia Absent Radius Syndrome: gene deletion/duplication

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • D Deletion/duplication analysis

Thrombocytopenia Absent Radius Syndrome: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes

Reference Laboratory Genetics
Spain
6358
  • 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

Thrombocytopenia Panel

Genetic Services Laboratory University of Chicago
United States
2842
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RBM8A 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

RBM8A Sequencing

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

RBM8A Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51324672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
112116
  • C Sequence analysis of the entire coding region

Results: 61 to 71 of 71

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.