Congenital Ichthyosis (PNPLA1) sequencing, total blood

New Test in NOÛS Catalog

Test Code: 7429

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	37 days
Information:
Autosomal recessive congenital ichthyosis (ARCI) is a disorder of the keratinisation of the clinically heterogeneous skin. Although the majority of the neonates with ARCI are collodion babies, the clinical manifestation and the severity of the disease can vary significantly, from harlequin-type ichthyosis, the most common and often severe form of ARCI, to lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). The diagnosis of autosomal recessive congenital ichthyosis is established by the findings of the skin at birth and in infancy. A skin biopsy is not necessary to establish the ARCI diagnosis. The seven genes that are known to be associated with ARCI are: TGM1, ALOXE3, ALOX12B, NIPAL' (formerly known as ICHTHYIN), ABCA12, CYP'F22 and PNPLA1; at least one gene continues being unknown.

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