Smith-Magenis syndrome (region 17p11.2) MLPA, whole blood

New Test in NOÛS Catalog

Test Code: 5226

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	25 days
Information:
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. SMS is typically a sporadic disorder caused either by a 17p11.2 deletion encompassing the retinoic acid-induced 1 (RAI1) gene (90%) or a mutation of the gene (10%).

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