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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