Telomere-related pulmonary fibrosis

Pulmonary fibrosis (PF) is a severe disease that causes 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. 

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Test Code 8140
Turnaround Time (TAT) 2-4 weeks
Number of Genes 2
Specimen Requirements Click here

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Mutation Detection Rate

Mutations in TERT or TERC found by this test are seen in 8-15% of familial pulmonary fibrosis and 1-3% of sporadic cases (clinical sensitivity). Ambry's TERT and TERC analyses can detect >99.9% of described mutations in both genes, when present (analytical sensitivity).  

Test Description

Our telomere-related pulmonary fibrosis genetic testing includes next generation sequencing (NGS) and deletion/duplication analysis of the TERT and TERC genes. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and NGS. Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis is performed via multiplex ligation probe amplification (MLPA, MRC Holland).

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