Dermatoloji
Fenotip ve hastalıklarla bağlantılı birden fazla geni tarayan NGS teknolojine dayalı tanı testleri
Panels
Epidermolysis Bullosa Precision Panel
Epidermolysis Bullosa (EB) is a group of genetic bullous disorders characterized by skin fragility and blistering of the skin and mucous membranes in response to minimal trauma.
Ichthyosis Precision Panel
Ichthyosis refers to an uncommon group of skin disorders characterized by excessive amounts of dry surface scales and hyperkeratosis, often associated with erythroderma.
Xeroderma Pigmentosum Precision Panel
Xeroderma Pigmentosum (XP) is a rare autosomal recessive disorder characterized by photosensitivity with easy skin burning following minimal sun exposure, pigmentary changes, premature skin aging and predisposition to malignant tumor development.
Oculocutaneous Albinism Precision Panel
Albinism is a group of inherited abnormalities of melanin synthesis and are characterized by a decrease or absence of melanin pigment. There are several types of albinism, one of them being oculocutaneous albinism (OCA). OCA is an autosomal recessive disease of melanin biosynthesis which leads to complete or partial loss of melanin in the skin, hair follicles and eyes.
Ectodermal Dysplasia Precision Panel
Ectodermal Dysplasias (EDs) are a heterogeneous group of approximately 200 inherited disorders characterized by anomalies in at least two of the structures derived from embryonic ectoderm, with at least one involving skin appendages (hair, nails, sweat glands).
Tuberous Sclerosis Precision Panel
Tuberous Sclerosis Complex (TSC) is an inherited neurocutaneous disorder that is characterized by pleomorphic features involving many organ systems. One of the main features of this disorder is the presence of multiple benign hamartomas of the brain, eyes, heart, lung, liver, kidney and skin.
