Invitae Elevated Leucine (MSUD) Panel
Use
The Invitae Elevated Leucine (MSUD) Panel analyzes genes associated with elevated leucine on newborn screening or plasma amino acid analysis, indicative of maple syrup urine disease (MSUD) or its variants. This panel is recommended for individuals with suspected MSUD due to positive newborn screens, elevated branched-chain amino acids, or relevant clinical symptoms. Accurate diagnosis and managing metabolic control are crucial for long-term outcomes.
Special Instructions
Newborn screening might fail to detect intermittent MSUD. Thus, testing is advised for anyone with clinical or biochemical indications of MSUD, regardless of prior negative results. Assay limitations and specific variant details will be provided in the report. Consult client services for more queries.
Limitations
This test analyzes coding exons and select non-coding regions, but some regions like promoters and certain non-coding areas may not be covered. Variants such as large rearrangements or complex tandem repeats might not be detected. Any limitations specific to gene analysis will be mentioned in the report. DNA from blood might not represent the constitutional genome in cases of hematologic disorders, transplants, or transfusions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)