U.S. flag

An official website of the United States government

GTR Home > Tests > Wole Exome Sequencing for Hemiplegic Migraine, Epilepsy, Ataxia, CADASIL/Small Vessel Disease

Overview

Test name

Help

Wole Exome Sequencing for Hemiplegic Migraine, Epilepsy, Ataxia, CADASIL/Small Vessel Disease (WES)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Predictive, Prognostic

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Testing submission form can be found on website or following contact with lab. Samples of purified DNA or blood in EDTA or heparin for testing can be sent along with request form to: GENOMICS RESEARCH CENTRE (GRC) Clinic Institute for Health and Biomedical Innovation Queensland University of Technology 5 School Street (Loading Bay) Kelvin Grove 4059, Brisbane, Queensland, Australia In-house pathology requests are accepted, so long as the test/disorder is specified and billing arrangements are complete.
Order URL Help: http://www.genomicsresearchcentre.org/

Specimen source

Cell-free DNA
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

Help
Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Ion Torrent PGM
  • Ion Torrent PGM OR Ion Torrent S5

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

Not provided

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously, comments
  • Clinical Testing/Confirmation of Mutations Identified Previously, comments

Practice guidelines

  • NICE, 2021
    UK NICE Guideline CG150, Headaches in over 12s: diagnosis and management, 2021
  • Orphanet, 2013
    Orphanet, Hemiplegic Migraine (HM), 2013

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.