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Results: 1 to 20 of 34

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Spastic ataxia Charlevoix-Saguenay type

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

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

PROCREA Genetic Laboratory PROCREA/Opmedic Group Inc.
Canada
11
  • T Targeted variant analysis

SACS. NextGeneDx. Complete sequencing by NGS

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

SACS. Complete sequencing

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

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) via the SACS Gene

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

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ARSACS

Counsyl
United States
11
  • C Sequence analysis of the entire coding region

Autosomal Recessive Spastic Ataxia of the Charlevoix-Saguenay

Molecular Diagnostics Laboratory Hospital Sainte-Justine
Canada
10
  • T Targeted variant analysis

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Ataxia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3432
  • C Sequence analysis of the entire coding region

Spinocerebellar ataxia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spastic ataxia, Charlevoix-Saguenay type: SACS gene screening

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • X Mutation scanning of select exons

Inheritest Carrier Screen

Integrated Genetics Westborough Integrated Genetics
United States
9287
  • T Targeted variant analysis

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Spastic ataxia, Charlevoix-Saguenay type

Human Genetics Ruhr University
Germany
11
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Spinocerebellar Ataxia

Asper Biotech Asper Biotech Ltd.
Estonia
6663
  • C Sequence analysis of the entire coding region

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel

Invitae
United States
2827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
299297
  • T Targeted variant analysis

Results: 1 to 20 of 34

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.