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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

MECOM - 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

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics, Part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738, Autosomal dominant; RUSAT2 (Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome) (MECOM gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738, Autosomal dominant; RUSAT2 (Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome) (MECOM gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • 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

Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel

Invitae
United States
7632
  • D Deletion/duplication analysis

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13885
  • D Deletion/duplication 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

MECOM

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

MECOM - 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

MECOM 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

Results: 1 to 20 of 23

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.