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Results: 1 to 20 of 50 (representing 26 labs)

Tests names and labsConditionsGenes and analytesMethods

Myoclonic dystonia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DYT11

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

DYT11 - myoclonus-dystonia

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DRD2. Detection of the mutation c.835_839delACAAA by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

DRD2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

SGCE. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

SGCE. Sequencing of the exons 1, 2, 3, 4, 5, 6, 7 and 9

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

Myoclonus-Dystonia Syndrome via the SGCE Gene

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

Dystonia 11

LifeLabs Genetics
Canada
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2919
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SGCE

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

DYSTONIA

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1513
  • C Sequence analysis of the entire coding region

Myoclonic dystonia: SGCE gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Dystonia

Asper Biotech Asper Biotech Ltd.
Estonia
3738
  • C Sequence analysis of the entire coding region

Invitae Dystonia Comprehensive Panel

Invitae
United States
1521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myoclonic dystonia 11

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

Myoclonic dystonia 11

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

Single gene testing SGCE

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

Results: 1 to 20 of 50

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.

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