Telomere-related pulmonary fibrosis - Ambry Genetics

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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.

Genetic test for pulmonary fibrosis by Ambry Genetics

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.

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).

Genes analyzed

8140

2-4 weeks

2 Genes

Telomere-related pulmonary fibrosis

2 Genes

TERC

TERT

Consent

Patient

Understanding Your Results

Private: Negative Pulmonary Fibrosis

Private: VUS Pulmonary Fibrosis

Mutation Detection Rate

>99.9%

TERT and TERC analyses

can detect the described mutations in both genes, when present (analytical sensitivity).*

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).

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. 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).

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.