Invitae Surfactant Metabolism Panel
Use
The Invitae Surfactant Metabolism Panel analyzes genes associated with disorders of surfactant processing, typically presenting as respiratory distress in the neonatal period or infancy. Genetic heterogeneity complicates diagnosis based solely on phenotype, thus broad panel testing enables efficient evaluation for a definitive cause. This test may confirm a diagnosis, guide treatment, and inform genetic counseling and recurrence-risk assessment.
Special Instructions
You can customize this test by selecting specific genes to remove from the panel. Contact client services for additional details on test coverage or limitations.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions/duplications. However, certain complex variants, structural rearrangements, or those in complex sequence regions may not be detected. Single-exon copy number events might not be analyzed due to sequence properties or data quality. Variants outside coding exons and adjacent sequences are not covered unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
Purple-top EDTA tube (K2EDTA or K3EDTA)