Test Code PKUBS Phenylalanine and Tyrosine, Blood Spot
Ordering Guidance
For follow-up of an abnormal newborn screen for potential phenylketonuria, order PKU / Phenylalanine and Tyrosine, Plasma.
Necessary Information
Patient's age is required.
Specimen Required
Submit only 1 of the following specimen types:
Preferred:
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 Paper, PerkinElmer 226 filter paper, Munktell filter paper, or blood collected in tubes containing EDTA and dried on filter paper.
Specimen Volume: 2 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
3. Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Specimen Stability Information: Ambient (preferred) 90 days/Refrigerated 90 days/Frozen 90 days
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Acceptable:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 2 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Refrigerate 6 days
Useful For
Monitoring effectiveness of therapy in patients with hyperphenylalaninemia
This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia
Special Instructions
Reporting Name
Phenylalanine and Tyrosine, BSSpecimen Type
Whole bloodSpecimen Minimum Volume
Blood spots: 1
Whole blood: 0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Varies |
Reject Due To
Blood spot specimen that shows serum rings or has multiple layers | Reject |
Insufficient specimen | Reject |
Unapproved filter papers | Reject |
Reference Values
PHENYLALANINE
27-107 nmol/mL
TYROSINE
<4 weeks: 40-280 nmol/mL
≥4 weeks: 25-150 nmol/mL
Day(s) Performed
Monday through Friday
Report Available
3 to 5 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
84030
84510
82542 (if appropriate for government payers)
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
PKUBS | Phenylalanine and Tyrosine, BS | 79621-9 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
92405 | Phenylalanine, BS | 29573-3 |
92406 | Tyrosine, BS | 35571-9 |
92407 | Reviewed By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.