Surfactant Dysfunction
Use
Genetic disorders of surfactant dysfunction are lung disorders that can cause breathing problems varying widely in severity, particularly affecting infants immediately after birth. A quick and accurate diagnosis is crucial in directing clinical care for individuals affected by these conditions. The Surfactant Dysfunction test aids in the detection of pathogenic variants in genes associated with these disorders, enabling informed clinical management and intervention.
Special Instructions
Family variant testing is available at no additional cost for blood relatives of patients who undergo full single gene sequencing, multigene panel testing, or exome sequencing at Ambry Genetics and are identified to have a pathogenic or likely pathogenic variant. This testing must be completed within 90 days of the original report date and is limited to patients receiving medical care in the U.S or US territories. More closely related relatives should be tested before more distant ones whenever possible.
Limitations
Clinical sensitivity for the genes included in this panel is not well established. While the test is designed to detect >99.9% of described mutations in the included genes when present, there are limitations in technology that may prevent the detection of certain pathogenic variants. Additionally, there may be other genes associated with surfactant dysfunction that are not tested or known currently. Variant interpretation may change over time as more genetic information becomes available.
Methodology
Sanger
Biomarkers
Result Turnaround Time
5-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided