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GTR Home > Tests > Noonan-Like Syndrome with Loose Anagen Hair

Overview

Test name

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Noonan-Like Syndrome with Loose Anagen Hair (SHOC2)

Purpose of the test

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

Condition

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How to order

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Patient samples should be shipped via overnight delivery at room temperature. Each specimen should be labeled with the patient’s name, date of birth, medical record number/unique identifier, and date of sample collection. No weekend or holiday deliveries. Send specimens with a completed sample requisition form, otherwise, specimen processing may be delayed. Specimen requirements: One tube of 3-5cc blood in an EDTA (purple top) tube.

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
  • Applied BIosystems 3500 capillary sequencing instrument

Summary of what is tested

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Clinical utility

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Not provided

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

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.