MOLECULAR STUDY MENKES SYNDROME (ATP7A) SECUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3872

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	50 days
Information:
Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. MD is an X-linked disease primarily affecting males while females are usually unaffected carriers. Onset occurs in the neonatal period. Most patients are born at term with appropriate birth measurements. Cephalohematomas and spontaneous fractures are occasionally observed at birth. In the early neonatal period, patients may present with prolonged jaundice, hypothermia, hypoglycemia and feeding difficulties. Additional symptoms are failure to thrive, poor eating, vomiting, and diarrhea. Patients develop gradual motor dysfunction and seizures. MD is caused by mutations in the ATP7A gene (Xq21.1). To date, about 200 different mutations in this gene have been reported. There is no obvious correlation between the mutations and the clinical course. Transmission is X-linked recessive.
Links:
OMIM Entry - #309400 - MENKES DISEASE
Orphanet- Menkes disease Menkes syndrome
OMIM Entry - -300011 - ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A

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