Test ID 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 specimens:
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 a Dried Blood Spot Sample.
3. Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours.
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:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Refrigerate 6 days
Secondary ID
65593Useful 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
Specimen Type
Whole bloodSpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| 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 Rochester
CPT Code Information
84030
84510
82542 (if appropriate for government payers)
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.