Pulmonology Long (Genome)

Cystic fibrosis, primary ciliary dyskinesia, surfactant disorders, hereditary pulmonary hypertension and familial pulmonary fibrosis.

Genes analysed (60 genes)

Reference: GRCh38, MANE Select transcripts.

Download gene list (PDF) — version v1.0.

Design coverage (30x PCR-free whole genome)

• 89.75% — uniform coverage on 30x genome (normal-mappability regions)
• n/a — no capture in genome: no off-target flanks
• Mappability gaps (segmental duplications; see GS mask) — intervals to validate with empirical depth or directed fill-in.

Included and excluded variants

Included: SNVs and indels in reportable range (≥20x, 99% het-SNV sensitivity), genomic CNVs (read-depth + split-read method; confirmed; segmental regions without validation excluded) + SV. Expansions screened with ExpansionHunter (≥10x) and confirmed pre-report. mtDNA not included in this panel.

Excluded: Mosaics <5% VAF; declared low-mappability regions.

declared limit ≥5% VAF; low-level mosaics (e.g. NLRP3, mosaic skin disorders) require a directed deep-amplicon pathway, not included by default.

Sample, turnaround and price

Sample: EDTA K2 blood or saliva · Turnaround: 4–6 weeks · Price: €500 (30x genome).

Clinical requirements

Medical prescription required and specific informed consent (includes ACMG SF v3.2 secondary findings with opt-in/out and VUS policy). Pre/post genetic counselling available.

Limitations

The CFTR poly-TG-T tract is genotyped and phasing with R117H is attempted (parental samples recommended); CFTR CNV by MLPA if indicated.

Reanalysis

Annual versioning (Panel_neumologia_larga_v202609); reanalysis available as evidence evolves.

Price includes orthogonal confirmations, genetic counselling and one annual reanalysis; further reanalyses per current tariff.