GTR Home > Tests > Alport syndrome (sequence analysis of COL4A5 gene)

Overview

Test name

Help

Alport syndrome (sequence analysis of COL4A5 gene)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

1 condition tested. Click Indication tab for more information.

Methodology

Help
Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

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

Test services

Help
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • ACMG, 2002
    Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss
  • EuroGentest, 2011
    Clinical utility gene card for: Alport syndrome.

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.

Support Center