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GTR Home > Tests > Megalencephalic leukoencephalopathy mutation study

Overview

Test name

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Megalencephalic leukoencephalopathy mutation study (MLC1 mutation study)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL Help: http://geneticcentre.org

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Cell culture
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Specimen requirements: http://geneticcentre.org

Methodology

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Molecular Genetics
TTargeted variant analysis
RFLP
  • Applied Biosystem - 2720

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Test services

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  • Genetic counseling
  • Result interpretation
  • 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.