Telomere-related pulmonary fibrosis
Use
Pulmonary fibrosis (PF) is a severe disease characterized by scar tissue build-up in the lungs and progressive shortness of breath. While PF does not always have a genetic cause, familial cases can be caused by specific telomeric genes such as TERT and TERC. This test analyzes these genes to detect mutations associated with familial pulmonary fibrosis. Mutations found by this test are observed in 8-15% of familial pulmonary fibrosis and 1-3% of sporadic cases, providing insight into the genetic basis of the condition.
Special Instructions
Not provided.
Limitations
While the test is designed to identify most detectable pathogenic and likely pathogenic variants in TERT and TERC, it is possible that some variants remain undetected by the current technology. Technical limitations, sample mix-up, or incomplete knowledge of genes could lead to inaccuracies. Further testing might be needed as more data become available, especially for variants of uncertain significance (VUS). False negatives or positives could occur due to insufficient read depth or pseudogene interference in certain regions, necessitating additional verification steps.
Methodology
NGS (Targeted)
Biomarkers
TERT, TERC
Gene
Result Turnaround Time
2-4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
The submitted blood specimen is required for isolation and purification of DNA to be used for molecular genetic testing.
Causes for Rejection
Might include sample mix-up or inaccurate information provided.
Other tests from different labs that may be relevant