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Results: 1 to 20 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Frontotemporal Dementia with C9orf72 Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3014
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ATXN2 - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
21
  • T Targeted variant analysis

ATXN8OS - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
21
  • T Targeted variant analysis

TBP - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
21
  • T Targeted variant analysis

GBA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MAPT - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Parkinson Disease Panel

Centogene AG - the Rare Disease Company
Germany
7876
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Ataxia Repeat Expansion Panel

Centogene AG - the Rare Disease Company
Germany
1313
  • T Targeted variant analysis

Invitae Gaucher Common Variants Test

Labcorp Genetics (formerly Invitae) LabCorp
United States
71
  • D Deletion/duplication analysis

Invitae Hereditary Parkinson Disease and Parkinsonism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4426
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel 

Labcorp Genetics (formerly Invitae) LabCorp
United States
7233
  • 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

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spinocerebellar Ataxia Type 2 via the ATXN2 CAG Repeat Expansion

PreventionGenetics, part of Exact Sciences
United States
21
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Parkinson disease, susceptibility to, 168600, Isolated cases, Multifactorial (MAPT 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

Parkinson disease, age of onset, modifier, 168600, Isolated cases, Multifactorial (GLUD2 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

Parkinson disease, late-onset, susceptibility to, 168600, Isolated cases, Multifactorial (GBA 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

Results: 1 to 20 of 39

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