Test Code PKUSC Phenylalanine and Tyrosine, Self-Collect, Blood Spot
Reporting Name
Phenylalanine and Tyrosine, SC, BSPerforming Laboratory
Mayo Clinic Laboratories in RochesterUseful For
Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen
This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Ordering Guidance
For follow-up of an abnormal newborn screen for potential phenylketonuria, order PKU / Phenylalanine and Tyrosine, Plasma
Necessary Information
1. Patient's age is required.
2. Patient's street address, city, state, ZIP (postal) code, country, and home phone are required (post-office [PO] boxes are not acceptable delivery locations).
Specimen Required
Supplies: Blood Spot Collection-Self Collect (T858)
Container/Tube: Blood Spot Self Collection Card
Specimen Volume: 2 Blood spots
Additional Information:
1. Order test each time the patient is to collect a dried blood specimen at home and mail the specimen directly to Mayo Clinic Laboratories.
2. Order should be placed a minimum of 3 days prior to desired date of collection.
3. Enter patient's address information for each order created, including street address (post office [PO] boxes are not acceptable delivery locations), city, state abbreviation, zip code, country, and home phone number.
4. For each order, the Blood Spot Collection-Self Collect kit will be mailed directly to the patient for self-collection (delivery to a PO box will not occur).
5. For more information on how to collect blood spots, see the following:
-How to Collect Dried Blood Spot Samples via fingerstick.
-Blood Spot Collection Instructions-Fingerstick
-Blood Spot Collection Instructions-Fingerstick-Spanish
Specimen Type
Whole bloodSpecimen Minimum Volume
1 Blood spot
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Ambient (preferred) | 90 days | FILTER PAPER |
Frozen | 90 days | FILTER PAPER | |
Refrigerated | 90 days | FILTER PAPER |
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
Interpretation
The quantitative results of phenylalanine and tyrosine with age-dependent reference values are reported without added interpretation. When applicable, reports of abnormal results may contain an interpretation based on available clinical information.
A phenylalanine:tyrosine ratio higher than 3 is considered abnormal.
Day(s) Performed
Monday through Friday
Report Available
3 to 5 daysTest 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
0382U
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
PKUSC | Phenylalanine and Tyrosine, SC, BS | 79621-9 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
610515 | Tyrosine, BS | 35571-9 |
610516 | Phenylalanine, BS | 29573-3 |
610514 | Reviewed By | 18771-6 |
BG735 | Patient Street Address (No PO Box) | 56799-0 |
BG736 | Patient City | 68997-6 |
BG737 | Patient State | 46499-0 |
BG738 | Patient Zip Code | 45401-7 |
BG742 | Patient Country | 77983-5 |
BG739 | Patient Home Phone | 42077-8 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.