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Results: 21 to 40 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Inherited Bone Marrow Failure Panel

Genetic Services Laboratory University of Chicago
United States
3059
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

RBM8A

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Limb malformation panel. NGS panel of 45 genes.

Genologica Medica
Spain
7745
  • C Sequence analysis of the entire coding region

Bone marrow failure syndrome panel. NGS panel of 122 genes.

Genologica Medica
Spain
194122
  • 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

RBM8A - Genetic Analysis

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

Thrombocytopenia Genetic Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
2026
  • C Sequence analysis of the entire coding region

Limb Abnormalities and Reduction Defects Panel

GeneDx
United States
2476
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
9562
  • C Sequence analysis of the entire coding region

RBM8A Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure NGS Panel

Fulgent Genetics
United States
18060
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Platelet Disorder NGS Panel

Fulgent Genetics
United States
7444
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel

Fulgent Genetics
United States
14682
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TAR Syndrome (RBM8A Single Gene Test)

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

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

Results: 21 to 40 of 47

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.