Surfactant Dysfunction

Genetic disorders of surfactant dysfunction are lung disorders that can cause breathing problems that vary widely in severity. Often times, these concerns can impact infants immediately after birth; they can benefit from a quick and accurate diagnosis to help direct clinical care. 
Quick Reference
Test Code 8100
Turnaround Time (TAT) 5-14 days
Number of Genes 3

Ordering Options

We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.

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Mutation Detection Rate

Clinical sensitivity for these genes is not well defined. Ambry's surfactant dysfunction testing can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

Our Surfactant Dysfunction panel includes Sanger Sequencing of ABCA3, SFTPB, and SFTPC. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. All the analyzed regions of the gene are amplified through polymerase chain reaction (PCR) and sequence alterations are identified by double-stranded sequencing from sense and anti-sense directions. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.

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