Invitae Neonatal Respiratory Distress Panel
Use
This genetic test analyzes 111 genes associated with conditions that present with respiratory distress in newborns. Respiratory distress in newborns is a complex condition characterized by various symptoms like rapid breathing, nasal flaring, and chest retractions. The heterogeneity in genetic factors makes it challenging to pinpoint a definitive cause based solely on phenotype, hence the broad panel testing provides a comprehensive evaluation of potential genetic contributors. This panel mainly focuses on genes associated with disorders like childhood interstitial lung disease, cystic fibrosis, and primary ciliary dyskinesia.
Special Instructions
For optimal results, a preferred specimen of 3mL whole blood in a purple-top EDTA tube is recommended. Alternate specimens like saliva, buccal swab, and gDNA are also accepted. This panel can be customized by removing selected genes if necessary, which might be beneficial to tailor the test to specific clinical indications.
Limitations
The test provides high analytical sensitivity and specificity for single nucleotide variants, insertions, deletions, and exon-level copy number changes. However, it might not detect structural rearrangements, complex variants, or variants in non-coding regions not covered explicitly. Also, limitations exist in detecting certain single-exon copy number events due to technical challenges. This assay is not designed to fully resolve aspects like mosaicism or mapping ambiguities unless otherwise specified. Comprehensive coverage is focused on clinically relevant regions associated with the panel disorders.
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)