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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

ADCY5 Gene Dyskinesia, familial, with facial myokymia NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

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

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Epilepsy - Intellectual Disability - Autism Spectrum Disorder

Amplexa Genetics Amplexa Genetics A/S
Denmark
1600
  • S Mutation scanning of the entire coding region

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

Cerebral Palsy Spectrum Disorders Panel

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

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • C Sequence analysis of the entire coding region

Hereditary chorea (WES based NGS panel of 14 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
114
  • C Sequence analysis of the entire coding region

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

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • 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

Central nervous system channelopathies (WES based panel of NGS panel of 23 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
123
  • C Sequence analysis of the entire coding region

Arrhythmia Panel

Mendelics
Brazil
1311
  • C Sequence analysis of the entire coding region

Cardiomyopathy Panel

Mendelics
Brazil
1311
  • 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 46

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.