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GTR Home > Tests > Smith-Lemli-Opitz Syndrome

Overview

Test name

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Smith-Lemli-Opitz Syndrome

Purpose of the test

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

Condition

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How to order

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Order URL Help: http://www.asperbio.com/asper-reprogenetics/slos/smith-lemli-opitz-syndrome-targeted-mutation-analysis

Specimen source

Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
TTargeted variant analysis
Microarray
  • APEX (arrayed primer extension) microarray

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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The detection level of the test is 97%.

Citations

Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Maternal cell contamination study (MCC)
  • 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.