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GTR Home > Tests > Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene

Overview

Test order codeHelp: 109

Test name

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Autosomal Recessive Spinocerebellar Ataxia and Amyotrophic Lateral Sclerosis Type 4 via the SETX Gene

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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Please visit Lab web site for detail http://www.preventiongenetics.com
Order URL Help: http://preventiongenetics.com/clinical-dna-testing/requisition-forms/

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Cell-free DNA
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Saliva
Skin
Sputum
White blood cell prep

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 109
  • Custom Deletion/Duplication Testing, Order code: 600

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.