Notch 3 Gene by Sequencing Cadasil5 Exons Blood

DESCRIPTION – CADASIL syndrome is a rare disease that belongs to a group of disorders called leukodystrophies. It is well established that NOTCH 3 gene on chromosome 19 is primarily responsible for the development of the CADASIL syndrome.

METHODOLOGY – massively parallel sequencing

TURN AROUND TIME – 3 weeks

SPECIMEN REQUIERED –

COLLECT – lavender (EDTA), pink (potassium EDTA) or yellow (ACD)

SPECIMEN PREPARATION – transport 5 ml whole blood

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

UNACCEPTABLE CONDITION – serum or plasma, grossly hemolyzed specimens or frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory