U.S. flag

An official website of the United States government

GTR Home > Tests > Hereditary Spastic Paraplegia Exome

Overview

Test name

Help

Hereditary Spastic Paraplegia Exome

Purpose of the test

Help

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

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

Help
Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Citations
  • 1. Faber I, Servelhere KR, Martinez AR et al. Clinical features and management of hereditary spastic paraplegia. Arq Neuropsiquiatr 2014: 72: 219-226. 2. Depienne C, Stevanin G, Brice A et al. Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007: 20: 674-680. 3. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983: 1: 1151-1155. 4. Fink JK. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 2013: 126: 307-328.

Clinical validity

Help

Not provided

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.