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GTR Home > Tests > MPV17 common South African mutation

Overview

Test name

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MPV17 common South African mutation (MPV17 106C>T)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Contact the laboratory directly for specific arrangements.

Specimen source

Amniocytes
Amniotic fluid
Buffy coat
Cell culture
Fibroblasts
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
Skin

Methodology

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Molecular Genetics
TTargeted variant analysis
RFLP

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. - PubMed ID: 20732827

Clinical validity

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Not provided

Testing strategy

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Common South African mutation testing only (MPV17:c.106C>T) 000 Contact the laboratory directly for specific arrangements.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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