Background:

Propionic acidemia results from a deficiency of mitochondrial propionyl-CoA carboxylase, an enzyme that is required for metabolism of propionyl-CoA, a metabolic intermediate in the metabolism of certain amino acids and fatty acids, and results in the buildup of propionic acid and other metabolites in plasma and urine. Biochemical tests are carried out during newborn screening to assess metabolic markers for propionic acidemia.  Patients may present either in the neonatal period or later in childhood.  Neonatal-onset propionic acidemia is initially characterized by poor feeding, vomiting, and hypotonia, followed by encephalophathy, coma, and seizures if untreated.  Late-onset propionic acidemia is characterized by developmental regression, vomiting, hypotonia, and movement disorders.  This next-generation sequencing panel targets the coding regions for 2 genes associated with propionic acidemia.

Reasons for Referral:

  • Abnormality in newborn screening
  • Confirmation of a clinical diagnosis
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of 2 genes associated with propionic acidemia using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

Propionic Acidemia (2 genes): PCCA, PCCB

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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