22q deletion (N-25)

DESCRIPTION – this test is used to detect Di-George syndrome which is caused by the deletion of chromosome number 22.

CLINICAL UTILITY – microdeletion of chromosome number 22q11.2 is detectable in the majority of Di-George/ Velo-cardio-facial syndrome. Deletion (22q11.2) syndrome is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit speech and learning disabilities.

METHODOLOGY – fluorescence in situ hybridization (FISH)

TURN AROUND TIME – 15 days

PATIENT PREPARATION –

COLLECT – non diluted bone marrow aspirate or sodium heparin

SPECIMEN PREPARATION – 3-4 ml bone marrow or peripheral blood in green top (sodium heparin) or lavender top (EDTA) tube

STORAGE/TRANSPORT TEMPERATURE – 2-8 degrees C (with cold pack) and transport within 72 hours

STABILITY – ambient: 48 hours; refrigerated: 48 hours

UNACCEPTABLE CONDITIOND – frozen and clotted specimens

MRP – 7500.00

SPECIAL INSTRUCTIONS – clinical history is mandatory