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).

Test Indications

  • Confirmation of a clinical diagnosis
  • Carrier testing for a family member of an affected individual

Sample requirements:

  • Infants: 2-3 mL whole blood in purple top EDTA tube
  • Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube

Sample Handling: 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].

Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

Cost/CPT Code: $134.00 / 81403

Turn around time: 2 weeks

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition for each sample.

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