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GTR Home > Tests > Microphthalmia, syndromic 3

Overview

Test name

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Microphthalmia, syndromic 3

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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A completed referral note, or letter stating name, dob, referral reason and the test that are requested. Also an address where to send the report and the invoice.
Order URL Help: http://www.kennedy.dk/

Specimen source

Amniotic fluid
Cell culture
Cell-free DNA
Chorionic villi
Fibroblasts
Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3130XL capillary sequencing system
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130XL 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
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • 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.