GTR Home > Tests > Alpha Thalassemia Deletion/Duplication and Constant Spring Panel

Overview

Test order codeHelp: 6070

Test name

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Alpha Thalassemia Deletion/Duplication and Constant Spring Panel

Purpose of the test

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

Condition

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2 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Other

Summary of what is tested

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

Genes

  • Gene: HBA1 (16p13.3)
  • Gene: HBA2 (16p13.3)

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL Help: https://www.preventiongenetics.com/forms.php

Test services

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  • Custom Deletion/Duplication Testing, Order code: 6070
  • Custom Prenatal Testing, Order code: 990

Practice guidelines

  • EMQN, 2014
    EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
  • ACOG, 2007
    ACOG technical bulletin. Hemoglobinopathies in pregnancy. Number 220--February 1996 (replaces no. 185, October 1993). Committee on Technical Bulletins of the American College of Obstetricians and Gynecologists.

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