U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

ATAD1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurotransmitter Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
5244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hyperekplexia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
2313
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperekplexia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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.