Sports Medicine Long (Genome)

Indication: Athletes with suspected or clinical indication (clinical pathway: cardiac genetics, iron metabolism, intolerances, vitamin D, pharmacogenetics and haemoglobinopathies) and healthy athletes interested in complementary information (associative markers and nutrigenetics, always with opt-in consent and comprehensive assessment). It is not population screening for the healthy athlete nor a talent or sport choice test.

Genes analysed (27 genes)

Download gene list (PDF) — version v1.0, 2026-09-09. Reference: GRCh38, MANE Select transcripts.

Modules: sports pharmacogenetics with applicable guidance (CYP2C9, CYP2D6, RYR1, CACNA1S); iron (HFE, TMPRSS6, TFR2); intolerances (HLA-DQA1, HLA-DQB1, LCT, MCM6, ALDH2); vitamin D (GC, CYP2R1, VDR); haemoglobinopathies (HBB); complementary associative markers (ACTN3, ACE, PPARGC1A, COL5A1, COL12A1, SLC16A1, IL6, TNF, IL15, EPAS1, NFE2L2). The clinical pathway may also be supported by the cardiology panel if indicated, ACMG SF v3.2 secondary findings (opt-in) and nutrigenetics module (62 genes, listed in report).

Design coverage (whole-genome backbone 30x PCR-free)

Coding core (CDS): ≥98% — uniform coverage at 30x genome (normal mappability regions).
Extended: n/a — genome uses no capture: no off-target flanks.
Mappability gaps (segmental duplications; see GS mask).
Method: intersection of MANE regions against exome capture design or ±50 bp mask excluding segmental duplications (genome); design figures, pending confirmation with empirical depth.

Included and excluded variants

Included: SNVs and indels in reportable range (≥20x), genomic CNVs (read-depth + split-read method; confirmed; segmental regions without validation excluded) + SVs. Expansions screened with ExpansionHunter (≥10x) and confirmed before reporting. mtDNA not included in this panel.
Excluded: prediction of talent or sport choice by DNA, training/diet prescription by genotype, sports polygenic scores, APOE as predictor of concussion; mosaics <5% VAF; declared low-mappability regions.
Mosaicism: declared limit ≥5% VAF; low-level mosaics require targeted deep-amplicon route, not included by default.

Sample, turnaround time and price

Sample: Blood in EDTA tube (preferred format); other matrices upon request · Turnaround: 30 days from sample receipt · Price: 500 € (30x genome) (includes orthogonal confirmations, genetic counselling and one annual reanalysis; further reanalyses according to current fees).

Clinical requirements

Requires medical prescription (clinical pathway) and specific informed consent (includes ACMG SF v3.2 secondary findings with opt-in/out and VUS policy). Complementary modules are activated only with opt-in consent, after an explanation of their non-decisional scope. Pre/post genetic counselling available.

Limitations

Cardiac genetics is not a population screening for the healthy athlete: it is indicated in the presence of phenotype, relevant arrhythmia or family history. HBB: every positive is confirmed by haematology before reporting; alpha-thalassaemia (HBA1/HBA2 deletions) is not evaluable by standard NGS. HLA-DQ2/DQ8 with dedicated caller: a positive does not diagnose coeliac disease. No common SNP solely determines diet, supplementation or training: the model is genetics + diet + laboratory tests + phenotype + individual response.

Reanalysis

Annual versioning (Panel_deporte_larga_v202609); reanalysis available in light of new evidence.