GTR Home > Tests > C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal

Overview

Test order codeHelp: ALSFTD

Test name

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C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
Trinucleotide repeat by PCR or Southern Blot

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

Testing strategy

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PCR, tPCR, and Southern Blot

How to order

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10 ml EDTA blood (not frozen!); alternatively: DNA (at least 20 µg); DNA may not be extracted by column technologies. Simply salting out yields best results. Include order form and statement about informed consent (http://www.uniklinik-ulm.de/fileadmin/Institute/Humangenetik/Docs/Diagnostik/Informed_Consent_Klinikum_2011.pdf). Include information about receipient of bill.
Order URL Help: http://www.uniklinik-ulm.de/fileadmin/Institute/Humangenetik/Docs/Diagnostik/Request_for_Molecular_Genetic_Testing_03_2012.pdf

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