MOLECULAR STUDY EPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS (KRT9) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3825

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	50 days
Information:
Palmoplantar keratoderma (PPK) are a heterogeneous group of disorders of epidermal differentiation characterized by the presence of hyperkeratosis of palms and soles. The pattern of inheritance may be autosomal dominant (AD), autosomal recessive (AR) and X-linked and there are also acquired forms. The differential diagnosis based on clinical, association with other systemic disorders or ectodermal, histology, the inheritance pattern and the underlying gene defect. Clinically it is possible to identify three distinct patterns of hereditary PPK according to their distribution and extent: diffuse, focal and punctate.
Links:
OMIM Entry - #144200 - PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK
OMIM Entry - -607606 - KERATIN 9; KRT9

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