GTR Home > Tests > Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing)

Overview

Test order codeHelp: N00340

Test name

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Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing)

Purpose of the test

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

Condition

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2 conditions tested. Click Indication tab for more information.

Methodology

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

Summary of what is tested

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

Genes

  • Gene: HBA1 (16p13.3)
  • Gene: HBA2 (16p13.3)
  • Gene: HBB (11p15.4)

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://diagnostics.cen4gen.org/diagnostics/order-a-test/

Practice guidelines

  • EMQN, 2014
    EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Consumer resources

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.

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