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: 1160 Test Name: SFTPB sequencing TAT 5-14 days Gene: 1
Test Code: 1180 Test Name: SFTPC sequencing TAT 5-14 days Gene: 1
Test Code: 1300 Test Name: ABCA3 sequencing TAT 5-14 days Gene: 1
Test Code: 8100 Test Name: Surfactant Panel TAT 5-14 days Genes: 3

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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

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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