GTR Home > Tests > Ashkenazi Jewish diseases

Overview

Test name

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Ashkenazi Jewish diseases

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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39 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)
  • MiSeq Personal Sequencer
TTargeted variant analysis
Microarray
  • APEX microarray

Summary of what is tested

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

Genes

Clinical validity

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APEX based test enables to detect up to 98% of mutations associated with diseases in the Ashkenazi Jewish population.

Citations

Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://www.asperbio.com/genetic-testing-process/ordering-genetic-tests

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Result interpretation
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.