HYPERPHOSPHATASIS-INTELLECTUAL DISABILITY SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Hyperphosphatasia syndrome with intellectual disability, also known as Mabry syndrome, is a congenital disorder characterized by developmental delay, intellectual disability, dysmorphic facial features, seizures, and persistently elevated serum alkaline phosphatase. It is caused by variants in genes involved in the biosynthesis and anchoring of glycophosphatidylinositol (GPI), which is essential for the function of multiple membrane proteins. This panel allows for confirmation of the molecular diagnosis, differentiation from other causes of syndromic intellectual disability, and facilitates family genetic counseling. Genes analyzed: PGAP2, PGAP3, PIGL, PIGO, PIGV, PIGW.
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