Endocrine Genetics

DESCRIPTION – endocrinology is an intuitive setting in which to consider the principles of genetic testing because endocrine disorders are due to defects in circumscribed pathways, providing clues to candidate genes

COMPONENTS – congenital hypothyroidism, obesity, diabetes, congenital adrenal hyperplasia, androgen receptor deficiency, kallmann syndrome, familial lipid disorder

METHODOLOGY – next generation sequencing (NGS)

TURN AROUND TIME – 21 days

PATIENT PREPARATION –

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

SPECIMEN PREPARATION – transport 5 ml whole blood or 2 micro-gram extracted DNA

STORAGE/TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

UNACCEPTABLE CONDITIONS – frozen specimens

SPECIAL INSTRUCTIONS – clinical history is mandatory