Genetic screening of Lamellar Icthyosis

posted Aug 24, 2016, 8:51 PM by Vinod Scaria   [ updated Sep 8, 2016, 7:19 AM ]

This test was developed as part of the CSIR800 project of Shruti Kapoor at as part of her PhD programme at Academy of Scientific and Innovative Research (AcSIR)
Lamellar Icthyosis is a dermatological condition characterized by thick and scaling skin. In neaonates and infants, this could manifest as a thick sheath, otherwise known as a colloidon membrane which dries and peels off during early weeks. Affected individuals may also manifest with additional features including hair loss, abnormal nails, redness of skin, recurrent infections, and thickening of palms/soles.

Mutations in TGM1 gene is responsible for majority of the cases of Lamellar Icthyosis

Test description
Screening of exons of TGM1 gene using capillary sequencing.