Molecular genetic diagnosis of hypophosphatasia (ALPL gene)

Hypophosphatasia is a rare genetic disease caused by a deficiency of tissue-nonspecific alkaline phosphatase (ALP) resulting from pathogenic variants in the ALPL gene. To date, five main forms of the disease are distinguished depending on the age of onset of the first symptoms: perinatal, infantile, childhood, adult, and odontohypophosphatasia (isolated teeth involvement). The disease is characterized by wide variability in the severity of manifestations and prognosis for the patient, ranging from a mild course with minor bone involvement or exclusive dentoalveolar region involvement to severe forms with damage to the nervous system, lungs, and kidneys, causing disability in the child, as well as leading to death, including intrauterine.

Within 10 days. The specified time does not include the day of biomaterial collection