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 | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 3291 | Genes x (2) | 81479 | 81405(x1), 81406(x2), 81479(x1) | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
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.
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
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.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.