U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

PUM1 - 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

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

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PUM1

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

Spinocerebellar ataxia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3837
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Hereditary Ataxia

Asper Biogene Asper Biogene LLC
Estonia
180139
  • C Sequence analysis of the entire coding region

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.