Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel
Use
This test is designed for individuals who exhibit features indicative of pulmonary fibrosis or surfactant dysfunction disorders. Additionally, it is suitable for individuals displaying symptoms suggestive of short telomere syndrome, such as premature graying and bone marrow failure. Genetic testing can aid in the diagnosis, enabling personalized treatment plans and informing family members of their genetic risk.
Special Instructions
The panel is appropriate for both exome and genome platforms, offering flexibility in sample requirements including blood, DNA, buccal, saliva, and tissue for the exome platform, and blood and DNA for the genome platform. STAT testing options are available, potentially expediting results for urgent cases.
Limitations
While NGS provides a comprehensive analysis of the 10 genes associated with pulmonary fibrosis and surfactant dysfunction, limitations exist in its inability to detect all types of mutations. Certain types of genetic alterations, like large deletions or deep intronic variants, may not be accurately identified. Moreover, the interpretation relies heavily on the quality and completeness of accompanying clinical information and familial data.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided