Neuropathy, ataxia and retinitis pigmentosa (NARP)
Analysis ID 222
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Neuropathy, ataxia and retinitis pigmentosa (NARP)
OMIM #551500
Clinical information Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that presents with a variety of symptoms mainly affecting the nervous system. NARP begins in childhood or early adulthood, and most of the affected patients develop sensory neuropathy, muscle weakness, and ataxia. Many individuals also have vision loss due to retinitis pigmentosa. Learning disabilities and developmental delay are often seen in children with NARP, while older individuals show a decrease in cognitive functioning (dementia). Other features of NARP include seizures, hearing loss, and cardiac conduction anomalies. The symptoms vary greatly among the affected individuals.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes MTATP6
Analysis description Sequencing of the coding region of the MTATP6 gene
Analysis indication Symptoms of NARP
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics