Propionic Acidemia Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
3291 PCCA 81406,81405 Order Options and Pricing
PCCB 81406,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
3291Genes x (2)81479 81405, 81406, 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Propionic acidemia (PA; OMIM 606054) is a severe and often lethal defect in the catabolism of certain amino acids (methionine, isoleucine, threonine, valine), odd-numbered chain length fatty acids and cholesterol. PA patients lack substantial activity in the mitochondrial enzyme propionyl-CoA carboxylase. Clinical onset is usually in infancy or early childhood. Clinical features include food intolerance, vomiting, lethargy, failure to thrive, ketoacidosis, hyperammonemia, and neutropenia.

Genetics

Propionic acidemia (PA) is an autosomal recessive condition. Propionyl-CoA carboxylase is comprised of two subunits, alpha and beta, encoded by the PCCA and PCCB genes, respectively. Defects in either gene can cause PA. Roughly 80 different causative variants in PCCA and 90 in PCCB have been reported to date (Desviat et al. Mol Genet Metab 83:28-37, 2004; www.hgmd.org).

Clinical Sensitivity - Sequencing with CNV PG-Select

Based on results from the literature, we estimate that at least one causative variant will be detected in nearly all PA patients and two causative variants in the great majority (Rodriguez-Pombo et al. Am J Hum Genet 63:360-369, 1998; Ugarte et al. Hum Mut 14:275-282, 1999).

Testing Strategy

This panel provides 100% coverage of all coding exons of the genes listed, plus ~10 bases of flanking noncoding DNA. We define coverage as ≥20X NGS reads or Sanger sequencing.

In addition to the regions described above, this testing includes coverage of the following variants that reside in deep intronic regions: PCCA c.1285-1416A>G and PCCB c.654+462A>G.

Indications for Test

All PA patients are candidates for this test. Many patients will already have had propionyl-CoA carboxylase enzyme assays performed on lymphocyte or fibroblast specimens. While it is possible to biochemically distinguish the two complementation groups in PA patients (see for example Rodriguez-Pombo et al Am J Hum Genet 63:360-9, 1998), it may be easier to simply perform the DNA tests.

Genes

Official Gene Symbol OMIM ID
PCCA 232000
PCCB 232050
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Propionic Acidemia AR 606054

Related Test

Name
PGxome®

Citations

  • Desviat, L. R., et.al. (2004). PubMed ID: 15464417
  • Rodriguez-Pombo, P., et.al. (1998). PubMed ID: 9683601
  • Ugarte, M., et.al. (1999). PubMed ID: 10502773

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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