DERMATOLOGY - We offer comprehensive genetic diagnostics for hereditary skin diseases, including a variety of isolated and syndromic diseases with skin manifestations. These range from aplastic skin on the scalp in Adams-Oliver syndrome with terminal limb defects, hypoplastic or absent nails, congenital heart defects, microphthalmia, microcephaly, and CNS anomalies to severe, classic Hutchinson-Gilford progeria accompanied by accelerated aging.
Adams-Oliver Syndrome(MA1601) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Albinism(DE0801) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Cutis Laxa(DE0501) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Dyskeratosis Congenita(IM0401) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Ectodermal Dysplasia(DE0401) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Ehlers-Danlos Syndrome(CA0101) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Epidermolysis Bullosa(DE0301) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Hereditary Acrodermatitis Enteropathica(DE0101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Hermansky-Pudlak Syndrome(HE1101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Ichthyosis(DE0601) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Neurofibromatosis(MA1501) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Pachyonychia Congenita(DE0701) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Progeria and Progeroid Syndromes(DE0201) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Waardenburg Syndrome Panel(EA0101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe