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 now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Whole Exome and SNP Array tests

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

Full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for each exon, plus at least 5 bases into the 5’ and 3’ ends of all the introns.

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