Xeroderma pigmentosum [17 genes]

Patients with Xeroderma pigmentosum suffer from acute sun sensitivity (severe sunburn with blistering and persistent erythema after minimal sun exposure) with progressive face pigmentation freckles (evident before two years old). Consequently, they present a very high risk of skin neoplasms induced by sunlight (basal cell carcinoma, squamous cell carcinoma, melanoma) in the first decade of life and also ocular involvement induced by sunlight (photophobia, keratitis, atrophy of the skin of the eyelids).

Xeroderma pigmentosum: 1 / 1,000,000.

Recommended service when you have diagnostic certainty that you are facing a diagnosis of Xeroderma pigmentosum and want to confirm the diagnosis through a genetic study without analyzing other genes.

The benefits of a genetic diagnosis in this context can range from family genetic counseling to prevention or early detection of associated comorbidities in patients with Xeroderma pigmentosum.

Indicated when the only entity considered as the patient’s diagnosis is this rare disease associated with photosensitivity.