Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Phenylalanine and Tyrosine Monitoring, Dried Blood Spot (Synonyms: Phenylketonuria monitoring, Hyperphenylalaninemia monitoring, Tyrosinemia monitoring, PKU)

Clinical Indications:

This test is ONLY for monitoring phenylalanine and tyrosine concentrations for known patients with a diagnosis of phenylketonuria/ hyperphenylalaninemia or tyrosinemia.

For the investigation of an undiagnosed patient with a suspicion of a disorder of amino acid metabolism, the Amino Acids Quantitation, Plasma test should be ordered.

Test Includes:

Amino acids reported: phenylalanine and tyrosine

Ordering Alert:

This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.

LABID (Connect Care):

LAB4528

Test Code:

CALGARY ZONE	MISCREFBL; IN MISC REF TEST NAME FIELD ENTER PKU MONITORING
CENTRAL ZONE	PHTY
EDMONTON ZONE	BPHTY
SOUTH ZONE (LETHBRIDGE) SOUTH ZONE (MEDICINE HAT)	PHENY PHTY
NORTH ZONE (ASPEN)	PHTY
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Bloodspot

Primary Container:

Newborn Metabolic Screening Blood Spot Requisition (NMS card)

Minimum Collection Volume:

2 full blood spots

Specimen Collection Requirements:

Ensure that expiry date of NMS card (requisition) has not been exceeded before proceeding with collection.

Ensure date and time of collection, and "PHE/TYR Monitoring" is indicated on the NMS card.

Collect a minimum of two saturated blood spots on the NMS card by using one of the methods described below:

Heel or Finger Poke Method

Alternative Method

Use a heel poke if patient is less than one year old or a finger poke if older.
Warm the finger or heel before collection and fill a minimum of two circles on the card using a single drop of whole blood (blood must soak through to the back of the card).

DO NOT

Smear blood onto the card.
Apply blood to both sides of card. If a single drop is insufficient, a second drop can be applied to the same side.

Collect blood specimen in a Lithium heparin or Sodium heparin tube.
Using a transfer pipette place one drop of blood on each blood spot on the NMS card. Each blood spot should require less than 100uL of blood.

DO NOT

Allow the pipette to come in direct contact with the newborn metabolic screening card.

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Room temperature
Protect from moisture and direct sunlight.

Processing:

Allow newborn screening card to dry for a minimum of 3 hours (with the protective card flap folded back) after collection by clipping or leaning the card against an object on a clean, flat, non-absorbent surface.

Keep newborn metabolic screening card away from sunlight and heat.

Transportation:

Transport fully dried newborn metabolic screening card in a clean, plastic sealable bag at room temperature.

Method:

Flow-injection tandem-mass spectrometry (FI-MS/MS)

Method and Interpretation of Results:

Phenylalanine and tyrosine are detected using flow-injection electrospray-ionization tandem mass spectrometry with stable-isotope labelled internal standards.

Phenylalanine and tyrosine monitoring allows for the assessment of a patient’s dietary phenylalanine and tyrosine tolerance following diagnosis, as well as ongoing adjustments based on their prescribed therapy to ensure levels remain within an acceptable range. It is recommended that all patients on dietary restriction therapy have a full plasma amino acid profile performed at least once a year, in addition to other micronutrient testing, for evaluation of potential nutritional deficiencies.

Routine Turn Around Time:

7 days

Testing Schedule:

Daily

Testing Area:

Biochemical Genetics

Performing Site:

University of Alberta Hospital

Contact Comments:

Newborn Screening & Biochemical Genetics North 780-407-8820

Last Updated On:

Monday, April 17, 2023

Date of Last Review:

Aug 1 2022 12:00AM