Test Code: PNL110

Genes: ABCA3, ACD, AP3B1, ASAH1, CSF2RA, CSF2RB, DKC1, FAM111B, FARSA, FARSB, GBA, HPS1, HPS4, ITGA3, NKX2-1, PARN, RTEL1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, TERC, TERT, TINF2, CASR, ZCCHC8 (28 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
This panel is designed to detect pathogenic and likely pathogenic variants in 28 genes known to be associated with familial pulmonary fibrosis and related interstitial lung diseases. Pulmonary fibrosis is a progressive disorder characterised by scarring of lung tissue, impaired gas exchange, and respiratory failure. While idiopathic pulmonary fibrosis is the most common form, a significant proportion of cases are linked to heritable genetic defects affecting surfactant metabolism, telomere biology, lysosomal function, and cellular homeostasis. By targeting these 28 genes, the panel provides a comprehensive molecular approach for diagnosing familial pulmonary fibrosis, clarifying overlapping syndromic presentations, and guiding genetic counselling, prognosis, and management strategies.