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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Protein phosphatase 2, regulatory subunit B (PPP2R2B) gene CAG triplet repeat test

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

PPP2R2B - 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 / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • 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

Spinocerebellar ataxia 12, 604326, Autosomal dominant (Spinocerebellar ataxia type 12) (PPP2R2B 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

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 12 presymptomatic testing

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

Spinocerebellar ataxia type 12

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

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

Spinocerebellar ataxia 12 (SCA12, detection of CAG expansion on PPP2R2B gene)

CGC Genetics Unilabs
Portugal
11
  • T Targeted variant analysis

Spinocerebellar ataxia panel: SCA8, SCA10, SCA12 and SCA17 (detetion of expansion on ATXN8OS/ATXN8, ATXN10, PPP2R2B and TBP genes)

CGC Genetics Unilabs
Portugal
14
  • 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

PANEL-3 SCA: SCA10, SCA12, SCA17 & SCA36

Laboratorio de Genetica Clinica SL
Spain
14
  • T Targeted variant analysis

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

Genetic Test for Spinocerebellar Ataxia Type 12 - SCA12

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • D Deletion/duplication analysis

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • 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.