CoGenesis® Dermatological

CoGenesis® Dermatological is a next-generation sequencing virtual panel of 163 genes spanning 13 disease groups, including the major forms of epidermolysis bullosa, congenital ichthyoses, palmoplantar keratodermas, ectodermal dysplasias, inflammatory and autoinflammatory skin disorders, desmosomal cardiocutaneous syndromes, primary immunodeficiencies with skin involvement, porphyrias, and hereditary hair and nail disorders.

Inherited skin diseases encompass over 600 described conditions, many sharing overlapping morphology — blistering, hyperkeratosis, abnormal hair or teeth, or recurrent infections — making clinical diagnosis alone unreliable. A molecular diagnosis confirms the subtype, predicts extracutaneous complications such as cardiomyopathy in desmosomal gene disorders or immunodeficiency in DOCK8 or IKBKG mutations, and identifies patients who may be eligible for emerging targeted therapies including gene and cell therapy trials in epidermolysis bullosa.

1. Establishing a molecular diagnosis in patients with suspected hereditary blistering disorders (e.g., epidermolysis bullosa) or congenital ichthyosis.
2. Distinguishing subtypes of ectodermal dysplasia, keratoderma, or hereditary hair and nail disorders where clinical features overlap.
3. Identifying extracutaneous risks — including cardiomyopathy (desmosomal gene variants), immunodeficiency (DOCK8, IKBKG), or metabolic disease (porphyria) — that require multidisciplinary surveillance.
4. Supporting reproductive counselling and cascade testing for at-risk family members.

13 sub-panels included:

4mL Peripheral blood (EDTA), 2mL saliva, or buccal swab

Preferred sample type:

• 4mL Blood (EDTA tube),
• Codex-provided buccal swabs (4 swabs)
• Codex-provided saliva collection kit (2mL)

Saliva or buccal swab sample collection: Follow the enclosed instructions; do not eat, drink, or smoke for 30 minutes before collection.

• Results may identify pathogenic, likely pathogenic, or variants of uncertain significance (VUS).
• Positive findings can inform risk‑reducing strategies and treatment options.
• Genetic counseling is recommended to help families understand implications.

Hereditary skin diseases encompass more than 600 monogenic conditions caused by defects spanning structural proteins (keratins, collagens, laminins, desmosomes), cornification enzymes, connexins, immune regulators, and metabolic pathways. Epidermolysis bullosa affects approximately 1 in 50,000 live births and ranges from localized, non-scarring simplex subtypes to severe, multi-organ dystrophic and junctional forms; subtype identification, now primarily molecular, determines prognosis and eligibility for gene and cell therapy trials. Congenital ichthyoses collectively affect about 1 in 250,000 individuals and require mutation-specific management, as systemic retinoid response varies by subtype. Desmosomal gene mutations (DSP, DSG2, DSC2, JUP) cause combined arrhythmogenic cardiomyopathy and keratoderma, making a dermatogenetic diagnosis a trigger for cardiac surveillance. Primary immunodeficiencies with prominent skin involvement (DOCK8, CARD11, IKBKG) present with recurrent infections and eczematous rash; earlier molecular diagnosis guides bone marrow transplantation eligibility. NGS panel testing has replaced sequential single-gene testing and achieves molecular diagnosis in the large majority of classically presenting hereditary skin diseases, shortening the diagnostic journey and directing therapy and surveillance.