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Propionic Acidemia

Propionic acidemia (PA) is a disorder of organic acid metabolism caused by deficient activity of mitochondrial propionyl-CoA carboxylase. Onset often occurs in the neonatal period and is associated with developmental delay and early death. The common clinical presentation includes severe ketoacidosis, vomiting, poor feeding, lethargy, hypotonia and coma. Hyperammonemia, seizures and hepatomegaly may also be [...]

+ Mutation-specific testing   + Prenatal testing

Propionic acidemia (PA) is a disorder of organic acid metabolism caused by deficient activity of mitochondrial propionyl-CoA carboxylase. Onset often occurs in the neonatal period and is associated with developmental delay and early death. The common clinical presentation includes severe ketoacidosis, vomiting, poor feeding, lethargy, hypotonia and coma. Hyperammonemia, seizures and hepatomegaly may also be present. A small number of patients have only exhibited neurologic signs. Late-onset patients usually have a milder course.

+ Mutation-specific testing   + Prenatal testing

Tests Available

PCCB Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PCCB
Clinical Utility:
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
2901
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
Billing Information:
View Billing Policy
ICD Codes:
  • 277.8: Other specified disorders of metabolism
  • 276.2: Acidosis Acidosis

REFERENCES

  1. Desviat, L.R. et al (2006) J Hum Genet 51:992-997
  2. Yang, X. et al (2004) Molec Genet Metab 81:335-342
  3. Perez, B., et al (2003) Molec Genet Metab 78:59-67
  4. Desviat, L.R., et al (2004) Molec Genet Metab 83:28-37
  5. Desviat et al., (2009) Mol Genet Metab 96:171-176

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