GTR Home > Tests > Surfactant Deficiency: ABCA3 related

Overview

Test name

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Surfactant Deficiency: ABCA3 related (ABCA3)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Submit sample with a completed requisition form

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • 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.