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GTR Home > Tests > PAX4

Overview

Test order codeHelp: PAX4

Test name

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PAX4

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Order URL Help: http://www.ouh.dk/wm341299

Specimen source

Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Fibroblasts
Isolated DNA
Saliva
White blood cell prep
Specimen requirements: http://www.ouh.dk/wm341299

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq™2000 system
XMutation scanning of select exons
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq™2000 system

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Guidance for management

Guidance for selecting a drug therapy and/or dose

Predictive risk information for patient and/or family members

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis

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.