Children's Mercy Kansas City
Name
Phenylalanine (PKU patient) Quant

CMH Lab Section
Biochemical Genetics

Clinical Description
Phenylalanine measurement is used in the diagnosis of hyperphenylalanine and PKU.

Specimen Requirements
Minimum 1 mL in sodium heparin green top
Alternate tubes: red top with gold ring

Dried blood spot samples on filter paper (S&S type 903 or equivalent, as used for newborn screening). Completely fill at least two circles. Blood spots should be completely dry before they are shipped (4-6 hours).

Availability
Routine

Turn Around Time
Batched testing run on Thursday
Specimens must be received by Wednesday afternoon

Processing Instructions
Spin, separate and refrigerate

Methodology
LC-MS/MS

Ranges
mg/dLµmol/L
Premature infant1.6-3.598-213
0-1 month0.6-2.338-137
1 month- 2 years0.5-1.231-75
2-18 years0.4-1.526-91
> 18 years0.6-1.435-85


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