Hereditary neuropathy with liability to pressure palsy HNPP
Analysis ID 184
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Hereditary neuropathy with liability to pressure palsy HNPP
OMIM 162500
Clinical information Hereditary neuropathy with liability to pressure palsy is a disorder that affects peripheral nerves. In patients with this condition, the peripheral nerves are unremarkably sensitive to compression. Hereditary neuropathy with liability to pressure palsy manifests in recurrent episodes of paresis. Symptoms begin usually during adolescence or early adulthood, but may also occur in adulthood and are greatly variable in severity. In some cases the disease can be almost asymptomatic.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes PMP22
Analysis description Analysis consists of quantitative testing of the exons 1 to 5 of the PMP22 gene with MLPA method
Analysis indication Hereditary neuropathy with liability to pressure palsy
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics