Maple Syrup Urine Disease 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 | |
|---|---|---|---|---|---|
| 3281 | Genes x (3) | 81479 | 81405(x2), 81406(x2), 81479(x2) | $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
Maple syrup urine disease (MSUD; OMIM 248600) is a heterogeneous organic aciduria disorder caused by the impairment of the branched-chain α-keto acid dehydrogenase complex (BCKD). BCKD is a mitochondrial complex, encoded by four nuclear genes (BCKDHA, BCKDHB, DBT, and DLD), which is involved in the metabolism of the branched-chain amino acids leucine, isoleucine, and valine (Morton et al. Pediatrics 109:999-1008, 2002; Nellis et al. Molec Genet Metab 80:189-195, 2003; Chuang et al. J Biol Chem 279:17792-17800, 2004). Defective BCKD complex activity leads to the accumulation of the branched-chain amino acids to toxic levels (Chuang et al. 2004). MSUD, in untreated neonates, is characterized by mental and physical retardation, maple syrup odor in cerumen and urine, poor feeding, ketonuria, irritability, lethargy, intermittent apnea, opisthotonus, stereotyped movements such as “fencing” and “bicycling,” coma, and respiratory failure. Biochemically, MSUD is characterized by elevated plasma concentrations of branched-chain amino acids (leucine, isoleucine, and valine) and allo-isoleucine, as well as a generalized disturbance of plasma amino acid concentration ratios (Schadewaldt et al. Clin Chem 45:1734-1740, 1999; Morton et al. 2002; Nellis et al. 2003; Chuang et al. 2004).
Genetics
MSUD is an autosomal recessive genetically heterogeneous disorder caused by variants in one of the four BCKD complex encoded genes (BCKDHA, BCKDHB, DBT, and DLD) (Zhang et al. Clin. Invest. 83:1425-1429, 1989; Zhang et al. Molec. Biol. Med. 8: 39-47, 1991). Of note, DLD gene sequencing is not included in this panel since variants in DLD gene result in a clinically distinguishable phenotype. DLD sequencing may be ordered separately (Test #529).
Clinical Sensitivity - Sequencing with CNV PG-Select
Sensitivity for MSUD testing is approximately 85% overall.
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 DBT variants that reside in deep intronic or untranslated regions: c.1018-550A>G and c.*358A>C.
Indications for Test
Candidates for this panel test are patients with symptoms consistent with MSUD.
Candidates for this panel test are patients with symptoms consistent with MSUD.
Genes
| Official Gene Symbol | OMIM ID |
|---|---|
| BCKDHA | 608348 |
| BCKDHB | 248611 |
| DBT | 248610 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Maple Syrup Urine Disease | AR | 248600 |
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.