Ent Genetics

DESCRIPTION – congenital deafness, a highly common birth defect, is seen in as many as 3 in 1000 babies. Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants

METHODOLOGY – next generation sequencing (NGS)

TURN AROUND TIME – 21 days

PATIENT PREPARATION –

COLLECT – lavender (EDTA), pink (potassium EDTA)

SPECIMEN PREPARATION – transport 5 ml whole blood or 2 microgram extracted DNA

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

UNACCEPTABLE CONDITION – frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory