Internal Medicine Short (Exome)

SUSPECTED genetic disease without specialty orientation: the clinician orders the reason and the laboratory directs to a subpanel (cardiac, metabolic, autoimmune, hereditary cancer).

Genes analysed (319 genes)

Reference: GRCh38, MANE Select transcripts.

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

Design coverage (exome NEXome_XP ~100x)

• Coding core (CDS): 100.00% of bases by design.
• Extended (exon ±25 bp): 56.22% (flanks/UTRs off-target in exome: off-target depth, see gaps).
• Nominal gaps — 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), exonic CNVs ≥3 exons, confirmed by MLPA/qPCR/array; directed MLPA trigger for critical 1–2-exon genes (BRCA1, CFTR). Repeat expansions NOT analysed. mtDNA not included in this panel.

Excluded: 1–2-exon CNVs, balanced SV, expansions, mtDNA, mosaics <10% VAF.

declared limit ≥10% 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: Blood (2 EDTA K2 tubes) or saliva · Turnaround: 4–6 weeks · Price: €300 (clinical exome).

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 report declares the reportable range per subpanel; without HPO/phenotype there is no interpretation.

Reanalysis

Annual versioning (Panel_medicina-interna_corta_v202609); reanalysis available as evidence evolves.

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

HPO and phenotype mandatory for interpretation; trio (proband + parents) recommended; the VUS burden of 319/1370 genes requires pre-test counselling.