Propionyl-CoA carboxylase, beta (PCCB) gene, Old Order Amish specific mutation analysis – PCCB Gene Mutation Analysis
Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme of the mitochondrial matrix that catalyzes the carboxylation of propionyl-CoA to D-methylmalonyl-CoA. Propionic acidemia (PA) is an organic acidemia caused by deficiency of PCC. Mutations in either the PCCA or PCCB genes are responsible for propionic acidemia (PA), one of the most frequent organic acidemias inherited in autosomal recessive fashion. The c.1606A>G (p.N536D) mutation in the PCCB gene is found more frequently in Amish patients who tend to have a less severe form of PA. This analysis will specifically test for the Old Order Amish specific mutation c.1606A>G (p.N536D).
- Confirmation of a clinical diagnosis
- Carrier testing for a family member of an affected individual
- Infants: 2 – 3 mL whole blood in purple top EDTA tube
- Children (>2 years) and Adults: 3-4 mL whole blood in purple top EDTA tube
Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].
Center for Human Genetics Laboratory
10524 Euclid Avenue, 6th Floor
Cleveland, OH 44106
For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.
Please submit a completed Molecular Requisition for each sample.