U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

HLH Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3523
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CDC42 - 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 Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7050
  • D Deletion/duplication analysis

Invitae Phagocytic Disorders Including Neutropenia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Takenouchi-Kosaki syndrome, 616737; TKS (CDC42 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

Takenouchi-Kosaki syndrome, 616737; TKS (CDC42 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

Inherited Thrombocytopenia Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
4042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Invitae Agammaglobulinemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3936
  • D Deletion/duplication analysis

CDC42 - Genetic Analysis

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

Comprehensive Platelet Disorder Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
6063
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Autosomal Dominant Thrombocytopenia Panel

Versiti Diagnostic Laboratories Versiti, Inc
United States
2222
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Epilepsy

Asper Biogene Asper Biogene LLC
Estonia
210204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Spectrum Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
4231
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.