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GTR Home > Tests > Direct molecular diagnostics of AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

Overview

Test order codeHelp: NSMH / SLC12A6 gene founder mutation

Test name

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Direct molecular diagnostics of AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN (NSMH/SLC12A6)

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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How to order

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Specimen: 5 ml of blood in lavender top tube Sending: < 72 hours, 2-8 degrees Celsius, monday to friday Paper form Please observe the CHU de Qu├ębec compliance criteria for specimen and form
Order URL Help: https://aceptmdmz.chudequebec.ca/aceptm/#search/nsmh

Specimen source

Amniocytes
Buffy coat
Chorionic villi
Cord blood
Fetal blood
Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
TTargeted variant analysis
Allele-specific primer extension (ASPE)
  • Applied Biosystems 3730 capillary sequencing instrument
  • None/not applicable

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Predictive risk information for patient and/or family members

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Clinical validity

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The exon 18 mutation (c.2346delG) is the one found in almost all (>99%) individuals of French-Canadian descent.

Citations

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: NSMH
  • Result interpretation
  • Custom mutation-specific/Carrier testing

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