Since the disease has a wide variety of symptoms due to involvement of multiple systems of the body, diagnostic testing depends on the clinical findings in each individual patient. Commonly used tests include a complete blood count (CBC), bone marrow examination, leukocyte telomere length test (e.g. Flow FISH), pulmonary function test, and genetic testing.
Dyskeratosis congenita
Chyloderma
Bromoderma
Keratoderma
Photodermatosis
Chondrodysplasia punctata
X-linked ichthyosis
Iododerma