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 Gene CPT Codes Copy CPT Codes
3281 BCKDHA 81405,81479 Order Options and Pricing
BCKDHB 81406,81479
DBT 81406,81405
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
3281Genes x (3)81479 81405, 81406, 81479 $640 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available.

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.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

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.

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

  • Chuang, J. L., et.al. (2004). PubMed ID: 14742428
  • Morton, D. H., et.al. (2002). PubMed ID: 12042535
  • Nellis, M. M., et.al. (2003). PubMed ID: 14567968
  • Schadewaldt, P., et.al. (1999). PubMed ID: 10508118
  • Zhang, B., et.al. (1989). PubMed ID: 2703538
  • Zhang, B., et.al. (1991). PubMed ID: 1943689

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.

Total Price: $
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