Invitae Cystic Fibrosis Test
Use
The Invitae Cystic Fibrosis Test analyzes the CFTR gene, which is associated with cystic fibrosis (CF), congenital absence of the vas deferens (CAVD), and chronic pancreatitis. Pathogenic variants in the CFTR gene inhibit the function of chloride channels across cell membranes, causing a thick mucus that clogs airways, the pancreas, and digestive system. This test aids in confirming a clinical diagnosis, helps predict disease prognosis and progression, guides therapeutic decisions, facilitates early detection of symptoms, informs family planning and genetic counseling, and promotes enrollment in clinical trials.
Special Instructions
Analysis includes the polymorphic TG/T tract within intron 9 as well as known promoter, 5’ UTR, 3’UTR, intronic HGMD variants. Variants are included in the report if classified as likely pathogenic, pathogenic, or a variant of uncertain significance. Benign polymorphisms are available upon request.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp. Larger insertions/deletions are detected but with potentially reduced sensitivity. Copy number is determined at single exon resolution, but single-exon CN events may not be analyzed due to sequence properties or data quality. Structural rearrangements and variants in complex architectures may not be detected. Certain details like mosaicism or phasing may not be resolvable. Sequence changes in non-coding regions are not covered unless specified. In very rare cases, analyzed DNA might not represent the patient's genome due to external factors like recent blood transfusion.
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)