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Panels · DNBSEQ · ACMG/AMP

Targeted gene panels

Genetic analysis focused on the most relevant variants of each clinical specialty. Maximum depth where it matters most.

What is a targeted panel

Deep sequencing where it matters most

A targeted panel sequences a selected set of genes associated with a specific pathology or specialty, with coverage exceeding 500x. It is the most efficient option when there is a specific clinical suspicion.

Cardiology

Cardiomyopathies, channelopathies, aortopathies, sudden death, familial hypercholesterolemia and congenital heart disease.

174+ genes

Oncology

Hereditary cancer predisposition syndromes: breast/ovarian (BRCA1/2), colon (Lynch), pancreas, thyroid, melanoma.

95+ genes

Neurology

Epilepsies, ataxias, hereditary neuropathies, early-onset dementias, neuromuscular and neurodevelopmental disorders.

580+ genes

Dermatology

Genodermatoses, epidermolysis bullosa, ichthyosis, albinism, pigmentation disorders and ectodermal dysplasias.

250+ genes

Gynecology and fertility

Carrier screening, premature ovarian failure, amenorrhea, disorders of sexual development, male fertility.

300+ genes

Pulmonology

Cystic fibrosis, ciliary dyskinesia, pulmonary fibrosis, alpha-1 antitrypsin deficiency and bronchiectasis.

80+ genes

Rheumatology

Hereditary connective tissue disorders, osteogenesis imperfecta, autoinflammatory syndromes, skeletal dysplasias.

200+ genes

Otolaryngology (ENT)

Sensorineural hearing loss, Usher syndrome, syndromic and non-syndromic deafness, otosclerosis.

150+ genes

Internal Medicine

Metabolic diseases, hemochromatosis, porphyrias, hereditary thrombophilias, storage disorders.

350+ genes

Chronic pain

Pain channelopathies (SCN9A, SCN10A, SCN11A), erythromelalgia, congenital insensitivity, pharmacogenomics of analgesics.

30+ genes

Immunology

Primary immunodeficiencies, autoinflammatory syndromes, complement defects, lymphohistiocytosis.

400+ genes

Custom panel

We design custom panels for your research project or clinical need. Contact us with your gene list.

Custom
Advantages

Why choose our panels

  • Coverage >500xMaximum sensitivity to detect low-frequency variants, including mosaicism.
  • ACMG/AMP classificationEach variant classified according to current international guidelines.
  • 3–4 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.
  • Expandable to exome/genomeIf the panel is not conclusive, we scale up without new sample or extraction.

Need a specific panel?

Contact us with the clinical indication and we will advise on the most suitable panel for each case.

Request information
OmicaLabs