Telomere-related pulmonary fibrosis

Casandra

Casandra Test Code AM32157Version 1 (DRAFT)

Performing Lab

Lab Ambry GeneticsLab Test ID 8140

Telomere-related pulmonary fibrosis

Clinical Use

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

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, or exome sequencing and are found to have a pathogenic or likely pathogenic variant, at no additional cost if testing is done within 90 days of the original report. This service is available only to patients receiving medical care in the U.S or its territories.

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.

Test Details