Test Directory

Cartilage-hair hypoplasia and anauxetic dysplasia spectrum disorders (11 Genes)

Ectodermal dysplasia (30 Genes)

Evaluation of patients with suspected ectodermal dysplasia syndromes, characterized by abnormalities in hair, teeth, nails, sweat glands, and skin

Epidermolysis bullosa (29 Genes)

Epidermolysis bullosa (EB) is a group of inherited disorders characterised by extremely fragile skin that blisters and tears easily, often in response to minor friction or trauma. Over 20 genes are associated with EB, including COL7A1, KRT5, KRT14, LAMA3, LAMB3, LAMC2, and ITGB4, depending on the subtype.

Poikiloderma spectrum (4 Genes)

Poikiloderma is not a single disease but a spectrum of skin changes characterized by a triad of atrophy, telangiectasia (visible small blood vessels), and mottled pigmentation (areas of hypo‑ and hyperpigmentation). It can be congenital, inherited, or acquired, and appears in several distinct clinical contexts.