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GTR Home > Tests > Achondroplasia

Overview

Test name

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Achondroplasia

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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Click Indication tab for more information.

How to order

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A Molecular TestRequisition form must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information. Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.
Order URL Help: http://www.saintfrancis.com/genetics/Pages/Test-Ordering.aspx

Specimen source

Amniocytes
Amniotic fluid
Chorionic villi
Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130 Capillary Sequencing System

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Reproductive decision-making

Clinical validity

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The incidence of the c.1138G>A/C variant is 99%

Test services

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  • 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.