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Results: 1 to 20 of 28

Tests names and labsConditionsGenes, analytes, and microbesMethods

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
96170
  • 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

THAP1 MLPA

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

Dystonia panel. NGS panel of 20 genes.

Genologica Medica
Spain
3520
  • C Sequence analysis of the entire coding region

THAP1 - Gene sequencing

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
11
  • C Sequence analysis of the entire coding region

Dystonia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1918
  • C Sequence analysis of the entire coding region

PRIMARY DYSTONIA TYPE DYT6

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Dystonia 6, torsion

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

THAP1

MGZ Medical Genetics Center
Germany
11
  • C Sequence analysis of the entire coding region

Primary dystonia, DYT6 type

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing THAP1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • C Sequence analysis of the entire coding region

Primary Torsion Dystonia Panel

CeGaT GmbH
Germany
29
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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.