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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

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

Dyskinesia, familial, with facial myokymia, 606703, Autosomal dominant (Familial dyskinesia and facial myokymia) (ADCY5 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 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

Dystonia panel. NGS panel of 20 genes.

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

Ciliary dyskinesia and heterotaxia. NGS panel of 40 genes.

Genologica Medica
Spain
4940
  • C Sequence analysis of the entire coding region

Paroxysmal Dyskinesia

Asper Biogene Asper Biogene LLC
Estonia
135
  • C Sequence analysis of the entire coding region

ADCY5-Related Dyskinesia (ADCY5 Single Gene Test)

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia

Asper Biogene Asper Biogene LLC
Estonia
3940
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing ADCY5

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

ADCY5 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.