Test Code: PNL110
Familial pulmonary fibrosis (28 Genes)
Rare Diseases
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.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
28 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
Methodology
Capture-based target enrichment and Next Generation Sequencing
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