GTR Home > Tests > Ceroid Lipofuscinosis, Neuronal, (infantile and juvenile): TPP1 (CLN2) gene mutation analysis (c.509-1G>C, p.R208X)

Overview

Test order codeHelp: G-1029-08

Test name

Help

Ceroid Lipofuscinosis, Neuronal, (infantile and juvenile): TPP1 (CLN2) gene mutation analysis (c.509-1G>C, p.R208X)

Purpose of the test

Help

This is a clinical test intended for Help: Screening

Condition

Help

1 condition tested. Click Indication tab for more information.

Methodology

Help
Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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

Genes

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

How to order

Help

Not provided

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.