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 |