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Results: 1 to 20 of 67

Tests names and labsConditionsGenes, analytes, and microbesMethods

GJB6 Gene Deafness, autosomal recessive type 1B NGS Genetic DNA Test

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

Spinocerebellar Ataxia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
55
  • T Targeted variant analysis

Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7)

Center for Genetics at Saint Francis Saint Francis Hospital
United States
55
  • T Targeted variant analysis

SCA Panel (SCA1, 2, 3, 6, 7) test

Neurogenetics Cyprus Institute of Neurology and Genetics
Cyprus
55
  • T Targeted variant analysis

Ataxin 3 (ATXN3) gene CAG triplet repeat test

Neurogenetics Cyprus Institute of Neurology and Genetics
Cyprus
11
  • T Targeted variant analysis

ATXN3 - Repeat expansion analysis

Centogene AG - the Rare Disease Company
Germany
11
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Repeat Expansion Panel

Centogene AG - the Rare Disease Company
Germany
1313
  • T Targeted variant analysis

Machado-Joseph Disease (MJD)/Spinocerebellar Ataxia Type 3 (SCA3) via the ATXN3 CAG Repeat Expansion

PreventionGenetics, part of Exact Sciences
United States
11
  • T Targeted variant analysis

Machado-Joseph disease, 109150, Autosomal dominant; MJD (Spinocerebellar ataxia type 3) (ATXN3 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

Machado-Joseph disease, 109150, Autosomal dominant; MJD (Spinocerebellar ataxia type 3) (ATXN3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Genomic UnityⓇ Ataxia Repeat Expansion Analysis (STR analysis of 16 loci)

Variantyx, Inc.
United States
1513
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 16 loci)

Variantyx, Inc.
United States
5253
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Spinocerebellar ataxia type 3 presymptomatic testing

Genetics Service Unit BRIC-National Institute of Biomedical Genomics
India
11
  • T Targeted variant analysis

Spinocerebellar ataxia type 3

Genetics Service Unit BRIC-National Institute of Biomedical Genomics
India
11
  • T Targeted variant analysis

Ataxia Repeat Expansion Panel

Genetic Services Laboratory University of Chicago
United States
1414
  • X Mutation scanning of select exons

Spinocerebellar ataxia type 3

Molecular Diagnostic Laboratory Diagnostic Services, Shared Health Manitoba
Canada
11
  • T Targeted variant analysis

Spinocerebellar Ataxia type 3, Machado Joseph disease (SCA3, CAG expansion on ATXN3 gene)

CGC Genetics Unilabs
Portugal
11
  • T Targeted variant analysis

Spinocerebellar ataxia panel: SCA1, SCA2, SCA3, SCA6 and SCA7 (detetion of CAG expansion on ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7 genes)

CGC Genetics Unilabs
Portugal
15
  • T Targeted variant analysis

Spinocerebellar ataxia panel: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and Dentatorubral-pallidoluysian atrophy (DRPLA)

CGC Genetics Unilabs
Portugal
110
  • T Targeted variant analysis

Results: 1 to 20 of 67

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.