GTR Home > Tests > Acid Sphingomyelinase Deficiency

Overview

Test name

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Acid Sphingomyelinase Deficiency (SMPD1)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Screening

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
Allele-specific primer extension (ASPE)
  • ABI 3130XL

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Not provided

Test services

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  • Custom mutation-specific/Carrier testing

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