Targeted gene panels
Two versions per specialty: short exome panel and long whole-genome panel.
The right panel for each clinical suspicion
Each specialty offers two versions: the short panel analyses essential genes on exome (~100x) and the long panel extends coverage on 30x whole genome, with CNV, structural variants and expansions depending on the panel. Choose according to clinical suspicion.
Cardiology
Cardiomyopathies, channelopathies, aortopathies, sudden death, familial hypercholesterolemia and congenital heart disease.
346 genes · 30x genomeOncology
Hereditary cancer predisposition syndromes: breast/ovarian (BRCA1/2), colon (Lynch), pancreas, thyroid, melanoma.
44 genes · 30x genomeNeurology
Early-onset dementia, familial Alzheimer, frontotemporal dementia, ALS, monogenic Parkinson, ataxias and hereditary movement disorders.
487 genes · 30x genomeDermatology
Genodermatoses, epidermolysis bullosa, ichthyosis, albinism, pigmentation disorders and ectodermal dysplasias.
323 genes · 30x genomeGynecology and fertility
Hereditary breast/ovarian cancer, Lynch, Cowden, Peutz-Jeghers, Li-Fraumeni and associated syndromes.
41 genes · 30x genomePulmonology
Cystic fibrosis, ciliary dyskinesia, pulmonary fibrosis, alpha-1 antitrypsin deficiency and bronchiectasis.
60 genes · 30x genomeRheumatology
Familial Mediterranean fever, TRAPS, CAPS and other monogenic autoinflammatory diseases.
32 genes · 30x genomeOtolaryngology (ENT)
Sensorineural hearing loss, Usher syndrome, syndromic and non-syndromic deafness, otosclerosis.
135 genes · 30x genomeInternal Medicine
Umbrella panel: with genetic suspicion and no assigned specialty, we direct to cardiac, metabolic, autoinflammatory or hereditary-cancer subpanels.
1370 genes · 30x genomeChronic pain
Pain channelopathies (SCN9A, SCN10A, SCN11A), erythromelalgia, congenital insensitivity, pharmacogenomics of analgesics.
20 genes · 30x genomeImmunology
Primary immunodeficiencies, autoinflammatory syndromes, complement defects, lymphohistiocytosis.
84 genes · 30x genomeBreast and Ovarian
Women with personal or family history of breast/ovarian cancer, or high-risk screening from age 30.
16 genes · 30x genomeNeonatal
Directed diagnosis in symptomatic newborns with suspected early genetic disease.
69 genes · 30x genomeLung
Suspected germline predisposition to lung cancer.
3 genes · 30x genomeSports medicine
Sudden death and cardiac genetics when indicated, athlete pharmacogenetics, iron, intolerances and complementary markers.
27 genes · 30x genomeResearch projects
Tailored sequencing for cohorts, scientific collaborations and special needs.
ResearchWhy choose our panels
- Double backboneExome ~100x for directed diagnosis; 30x genome with CNV, structural variants and expansions. Declared mosaicism limits per version.
- ACMG/AMP classificationEach variant classified according to current international guidelines.
- 4–6 week turnaroundFrom sample receipt to signed report.
- Simple sample2 EDTA K2 blood tubes or saliva. No special restrictions.
- Complete clinical reportWith recommendations, family segregation and bibliographic references.
- Escalation without new extractionIf the short panel is not conclusive, we escalate to the long one and re-analyse with new evidence.
Only need one variant?
If instead of a panel you only need to confirm one specific mutation, we offer a targeted Sanger test: €132 and 15 days.
Need a specific panel?
Contact us with the clinical indication and we will advise on the most suitable panel for each case.
Request information