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Neonatal Long (Genome)

Neonatal Long (Genome)

SYMPTOMATIC newborns with suspected early-onset genetic disease (not population screening of healthy babies): inborn errors of metabolism, severe immunodeficiencies, congenital hearing loss and actionable neonatal heart disease.

Genes analysed (69 genes)

Reference: GRCh38, MANE Select transcripts.

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

Design coverage (30x PCR-free whole genome)

  • 98.33% — 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

Pre/post genetic counselling required (not optional) as this is predictive testing or testing in a minor. 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

Analysis directed to actionable early-onset genes (published list), not open exome; secondary findings and incidentalomas per consent policy; every severe call confirmed.

Reanalysis

Annual versioning (Panel_neonatal_larga_v202609); reanalysis available as evidence evolves.

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

HPO mandatory; trio recommended; secondary findings and incidentalomas per minors policy (deferred disclosure of adult-onset). Standard 4–6 week turnaround: for life-threatening urgency ask about the urgent pathway.

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