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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics
United States
201211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aicardi-Goutières Syndrome 5 via the SAMHD1 Gene

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

Aicardi-Goutières Syndrome Panel

PreventionGenetics
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aicardi-Goutieres Syndrome Type 5 (SAMHD1) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • T Targeted variant analysis

SAMHD1 - Gene sequencing

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Results: 1 to 8 of 8

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.