GTR Home > Tests > Congenital Central Hypoventilation Syndrome

Overview

Test order codeHelp: 1580

Test name

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Congenital Central Hypoventilation Syndrome

Purpose of the test

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

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what tested

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

Genes and variants

Clinical validity

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Approximately 92% of affected individuals have an in-frame expansion of a polyalanine repeat in exon 3 of the PHOX2B gene from the normal 20 repeats to 25-33 repeats. The remaining ~8% of patients have other mutations at the end of exon 2 or within exon 3.

Citations

Not provided

Clinical utility

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Not provided

Testing strategy

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Test can be run as individual gene sequence analysis or specific site analysis.

How to order

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Order URL Help: http://ambrygen.com/forms

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 1580
  • Custom mutation-specific/Carrier testing

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