Baraitser-Winter syndrome (ACTB) sequencing, whole blood

New Test in NOÛS Catalog

Test Code: 5215

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Delivery term:	30 days
Information:
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism, ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA) corresponds to the appearance of BWS in elderly patients. BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in ACTB (7p22-p12).

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