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Results: 1 to 20 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

SNCA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SNCB - 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

Parkinson Disease Panel

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

Genomic Unity® Dementia Analysis

Variantyx, Inc.
United States
632
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

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

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel

PreventionGenetics, part of Exact Sciences
United States
4538
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • 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

Lewy body dementia, susceptibility to, 127750, Autosomal dominant (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Lewy body dementia, susceptibility to, 127750, Autosomal dominant (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Lewy body dementia, susceptibility to, 127750, Autosomal dominant (GBA 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

Lewy body dementia, susceptibility to, 127750, Autosomal dominant (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

Dementia, Lewy body, 127750, Autosomal dominant (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Dementia, Lewy body, 127750, Autosomal dominant (SNCA 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

Dementia, Lewy body, 127750, Autosomal dominant; DLB (SNCB 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 61

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.