INFANTILE HYPOPHOSPHATASIA · ALPL · SANGER

New Test in NOÛS Catalog

Test Code: 9548

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Sanger sequencing
Set Up Days:	Daily
Delivery term:	32 days
Information:
Hypophosphatasia is characterised by the defective mineralisation of bones and/or teeth in the presence of low serum and bone alkaline phosphatase activity. The clinical manifestations go from foetal death without mineralised bone in its most severe forms, to fractures of the lower limbs in adult age in its most benign form. At least six clinical forms are recognised at the time of the diagnosis and the severity of characteristics: -Perinatal form of hypophosphatasia (lethal) which is characterised by respiratory insufficiency and hypercalcaemia. -Perinatal form of hypophosphatasia (benign) with prenatal bone manifestations that are resolved slowly in the mildest form during development. -Infantile Hypophosphatasia with onset between birth and the age of six months, with rickets without elevated serum alkaline phosphatase activity. -Hypophosphatasia of the adult that is characterised by early loss of adult dentition and stress fractures and pseudofractures of the lower extremities in middle age. Although formal diagnostic criteria have not been established, in all the forms of hypophosphatasia the presence of one or two pathological mutations in the ALPL gene intervenes, which is also the only known gene associated with hypophosphataemia. Perinatal and childhood hypophosphatasia are inherited in an autosomal recessive manner. The mildest forms, especially in adults, may be inherited in autosomal dominant or recessive form, depending on the effect that the ALPL mutation has on the enzymatic activity.

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