MSUD Panel by Massively Parallel Sequencing
Use
The MSUD Panel is intended for patients with clinical or suspected maple syrup urine disease (MSUD), which is an inherited metabolic disorder. Symptoms may include irritability, lethargy, and a distinct 'maple syrup' odor in urine, starting in the first few days of life if untreated. Those with classic MSUD may suffer severe consequences, including brain swelling, coma, and respiratory failure. Intermediate MSUD shows milder symptoms and could manifest under stress. Early intervention and a strict BCAA-free diet are crucial for improving prognosis while considering the risk for psychological issues.
Special Instructions
This test is intended for patients with symptoms suggestive of Maple Syrup Urine Disease or those with a positive newborn screening result. It is also indicated for individuals with a known family history. The testing process involves careful sample collection and shipping requirements to preserve sample integrity.
Limitations
This massively parallel sequence analysis will not detect genomic structural rearrangements, such as deletions and duplications, or large insertion mutations. The detection of mutations and novel variants will require confirmation by Sanger sequencing, which adds to the turnaround time. Laboratory errors may also occur, which underscores the necessity for clinical correlation and potentially confirmatory testing as needed for definitive diagnosis.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
5cc
Minimum Volume
3cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in an EDTA tube.
Storage Instructions
Ship at room temperature.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hrs |