Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia Phenylketonuria: Evaluation of patients with hyperphenylalaninemia or monitoring effectiveness of dietary therapy. Not sufficient follow-up for abnormal newborn screening results, because other causes of hyperphenylalaninemia (eg, BH4 deficiency) cannot be excluded by this test alone.
Collection Instructions
1. Let blood dry on filter paper at room temperature in a horizontal position for 3 or more hours.
2. At least 2 spots should be complete, ie, unpunched.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Acceptable: Whatman Protein Saver 903 Paper, Ahlstrom 226 filter paper
also acceptable NYS DOH NB screening card, or blood collected in tubes containing EDTA and dried on filter paper.
Specimen Volume: 2 Blood spots
Storage/Transport Temperature
Store room temperature. Ship room temperature.
Unacceptable Conditions
Blood spot specimen that shows serum rings or has multiple layers
Stability (from collection to initiation)
Ambient (preferred) 90 days/Refrigerated 90 days/Frozen 90 days
Collection device
Card-Blood Spot Collection (Filter Paper) (T493)
Alternate Specimen Requirements
Specimen Type: Whole blood Container/Tube: Lavender top (EDTA) Specimen Volume: 2 mL Collection Instructions: Send whole blood specimen in original tube. Do not aliquot. Specimen Stability Information: Refrigerate 6 days
Lab Section
Send-out Lab
Methodology
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
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.
CPT Codes
Phenylalanine-84030
Tyrosine-84510
LOINC Mapping
Result ID
Test Result Name
Result LOINC Value
92405
Phenylalanine, BS
29573-3
92406
Tyrosine, BS
35571-9
92407
Reviewed By
18771-6
Order Type (Individual or Group)
G
Group Test Information
Result Test ID
Reportable
Result Test Name
Result Type
Type (Alpha or Numeric)
Prompt Test
PHE1
Y
PHENYLALANINE
I
N
TYR1
Y
TYROSINE
I
N
PKRB
Y
PK REVIEWED BY
I
N
CPT Codes
Phenylalanine-84030
Tyrosine-84510
LOINC Mapping
Result ID
Test Result Name
Result LOINC Value
92405
Phenylalanine, BS
29573-3
92406
Tyrosine, BS
35571-9
92407
Reviewed By
18771-6
Pricing
Refer to Lab Account Manager. email: labservicesoutreach@urmc.rochester.edu
Specimen Requirements
Ordering Recommendations
Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia Phenylketonuria: Evaluation of patients with hyperphenylalaninemia or monitoring effectiveness of dietary therapy. Not sufficient follow-up for abnormal newborn screening results, because other causes of hyperphenylalaninemia (eg, BH4 deficiency) cannot be excluded by this test alone.
Collection Instructions
1. Let blood dry on filter paper at room temperature in a horizontal position for 3 or more hours.
2. At least 2 spots should be complete, ie, unpunched.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Acceptable: Whatman Protein Saver 903 Paper, Ahlstrom 226 filter paper
also acceptable NYS DOH NB screening card, or blood collected in tubes containing EDTA and dried on filter paper.
Specimen Volume: 2 Blood spots
Storage/Transport Temperature
Store room temperature. Ship room temperature.
Unacceptable Conditions
Blood spot specimen that shows serum rings or has multiple layers
Stability (from collection to initiation)
Ambient (preferred) 90 days/Refrigerated 90 days/Frozen 90 days
Collection device
Card-Blood Spot Collection (Filter Paper) (T493)
Alternate Specimen Requirements
Specimen Type: Whole blood Container/Tube: Lavender top (EDTA) Specimen Volume: 2 mL Collection Instructions: Send whole blood specimen in original tube. Do not aliquot. Specimen Stability Information: Refrigerate 6 days
Testing
Lab Section
Send-out Lab
Methodology
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
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.
Coding
CPT Codes
Phenylalanine-84030
Tyrosine-84510
LOINC Mapping
Result ID
Test Result Name
Result LOINC Value
92405
Phenylalanine, BS
29573-3
92406
Tyrosine, BS
35571-9
92407
Reviewed By
18771-6
URM Labs Internal
Test Build
Order Type (Individual or Group)
G
Group Test Information
Result Test ID
Reportable
Result Test Name
Result Type
Type (Alpha or Numeric)
Prompt Test
PHE1
Y
PHENYLALANINE
I
N
TYR1
Y
TYROSINE
I
N
PKRB
Y
PK REVIEWED BY
I
N
CPT Codes
Phenylalanine-84030
Tyrosine-84510
LOINC Mapping
Result ID
Test Result Name
Result LOINC Value
92405
Phenylalanine, BS
29573-3
92406
Tyrosine, BS
35571-9
92407
Reviewed By
18771-6
Pricing
Refer to Lab Account Manager. email: labservicesoutreach@urmc.rochester.edu
