Phenylalanine/Tyrosine (DBS)

Alternate test name

PHE/TYR. blood spot

Lab area

Clinical Biochemistry - Metabolic Diseases

Method and equipment

Measurement by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS)

Expected turn-around time

7 days

Specimen type

Dried Blood spot

Specimen requirements

Saturated filter paper circle. Recommend 2 full circles on a Specimen Collection Card.

Storage and transportation

Allow sample to completely air dry before shipping at room temperature.

Special requirements

Circle on DBS card should be fully saturated front to back with blood to be acceptable
Follow-up for diagnosed PKU patients
Not for newborn screening

Shipping information

The Hospital for Sick Children

Rapid Response Laboratory

555 University Avenue, Room 3642

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Requisition

Phenylalanine/Tyrosine (DBS) - requisition

Background and clinical significance

Phenylalanine and tyrosine are proteinogenic amino acids that when elevated are consistent with PKU related disorders and tyrosinemia (Type I, II and III). Monitoring of blood concentration is important for the effective management of these metabolic disorders. Dried blood spots provide an effective mechanism for sample transport allowing collections to occur outside of a clinical setting.

Disease condition