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Myoadenylate deaminase deficiency
Analysis ID 191
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Myoadenylate deaminase deficiency
OMIM
Clinical information Adenosine monophosphate (AMP) deaminase deficiency is a condition that affects the skeletal muscle functioning. Patients with this condition do not produce sufficient amounts of an enzyme called AMP deaminase. Mutations in the AMPD1 gene cause AMP deaminase deficiency. The condition is inherited in an autosomal recessive manner.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes AMPD1
Analysis description Analysis of the most common mutations in the AMPD1 gene
Analysis indication Symptoms of myoadenylate deaminase deficiency
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics