Branched-Chain Amino Acids, Self-Collect, Blood Spot
Use
This test is useful for monitoring patients with maple syrup urine disease using specimens collected at home. It aids in dietary monitoring and follow-up to manage and adjust the treatment by regularly determining the concentrations of branched-chain amino acids (BCAA) and Allo-Ile concentrations.
Special Instructions
Not provided.
Limitations
The test has not been cleared or approved by the FDA. Improper specimen collection, such as blood spot specimens with serum rings or multiple layers, may cause rejection. Quantitative results are reported without added interpretation, requiring the clinical context for comprehensive interpretation.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 94571-7 - Branched chain aa Pnl DBS
- 94572-5 - Alloisoleucine DBS-sCnc
- 47679-6 - Leucine DBS-sCnc
- 47671-3 - Isoleucine DBS-sCnc
- 47799-2 - Valine DBS-sCnc
- 18771-6 - Provider signing name
Result Turnaround Time
2-4 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 Blood spots
Minimum Volume
1 Blood spot
Container
Blood Spot Self Collection Card
Collection Instructions
Order test each time the patient is to collect a dried blood specimen at home and mail the specimen directly to Mayo Clinic Laboratories. Order should be placed a minimum of 3 days prior to desired date of collection. Blood Spot Collection-Self Collect Kit will be mailed directly to the patient.
Causes for Rejection
Blood spot specimen that shows serum rings or multiple layers
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 59 days |
| Refrigerated | 59 days |
| Frozen | 59 days |