| Test Code | 8140 |
| Turnaround Time (TAT) | 2-4 weeks |
| Number of Genes | 2 |
for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.
Order Now*excludes Secondary Findings and SNP Array tests
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).
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. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality 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).