HYPERPHOSPHATASIS SYNDROME - INTELLECTUAL DISABILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes

LabGenetics
Caja de HYPERPHOSPHATASIS SYNDROME - INTELLECTUAL DISABILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de HYPERPHOSPHATASIS SYNDROME - INTELLECTUAL DISABILITY: CLINICAL EXOME PANEL (Sec. & CNVs) – 6 genes

Hyperphosphatasia syndrome with intellectual disability, also known as Mabry syndrome, is a congenital disorder characterized by persistently elevated serum alkaline phosphatase, developmental delay, hypotonia, dysmorphic facial features, and, in some cases, epilepsy or brain malformations. This panel includes genes involved in the biosynthesis and anchoring of GPI (glycosylphosphatidylinositol) proteins, alterations in which interfere with the correct expression of neuronal and hepatic surface proteins. Molecular analysis allows for confirmation of the diagnosis and establishes the specific genetic basis for clinical management and family counseling. Genes analyzed: PIGV, PGAP2, PGAP3, PIGO, PIGL, PIGW. You can consult the complete list of analyzed genes by contacting Genotica.

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