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Results: 1 to 20 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

Pontocerebellar hypoplasia type 12 , Neurodegeneration with cerebral iron accumulation, type 6 (deletions/duplications in COASY gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

THAP1 Gene DYT6 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Parkinson Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

THAP1 - 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

Invitae Cerebral Palsy Spectrum Disorders Panel

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

Dystonia 6, torsion, 602629, Autosomal dominant (Primary dystonia, DYT6 type) (THAP1 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

Dystonia 6, torsion, 602629, Autosomal dominant (Primary dystonia, DYT6 type) (MLPA)

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

Dystonia via the THAP1 Gene

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

Dystonia Panel

PreventionGenetics, part of Exact Sciences
United States
1717
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Invitae Dystonia Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral Palsy Spectrum Disorders Panel

Baylor Genetics
United States
1419
  • C Sequence analysis of the entire coding region

THAP1 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • D Deletion/duplication analysis

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Parkinson's and movement disorders panel_v.2.0

CGC Genetics Unilabs
Portugal
1256
  • C Sequence analysis of the entire coding region

Dystonia (WES based NGS panel of 117 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1117
  • C Sequence analysis of the entire coding region

Dystonia type 6 (DYT6, sequence analysis of THAP1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Dementia and Parkinson's Panel

Mendelics
Brazil
260
  • C Sequence analysis of the entire coding region

Dystonia Panel

Mendelics
Brazil
136
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 52

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.