Interstitial Lung Disease: Deletion/Duplication Panel
Test Code: 1186
Turnaround time: 3 weeks
Interstitial lung disease refers to a group of disorders that cause progressive scarring of the lung tissue, or interstitium. The interstitium provides support to the lungs and contains blood vessels that allow for proper transport of oxygen. This irreversible scarring leads to breathing difficulties including chronic cough, rapid breathing, and shortness of breath. Although there are various non-genetic causes, such as environmental exposures and autoimmune disorders, improved understanding of genetics has created the possibility of including genetic evaluation in the clinical work-up.
This test is indicated for:
- Confirmation of a clinical diagnosis of suspected interstitial lung disease.
Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.
Please note that a “backbone” of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off- target copy number variants causative of disease may be identified that may or may not be related to the patient’s phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements: In EDTA (purple top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements: In microtainer: 10 μg
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Interstitial Lung Disease: Sequencing Panel
- Pulmonary Disease: Sequencing Panel