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HelpTest ID LBOR0246 Tyrosinemia Follow Up Panel, Blood Spot
Useful For
Monitoring of individuals with tyrosinemia type 1 (HT-1)
Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate hydrolase (FAH) gene
Specimen Type
Whole bloodNecessary Information
Patient's age and reason for testing are required.
Specimen Required
Submit only 1 of the following specimen types:
Preferred:
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 Paper, PerkinElmer 226 filter paper, Munktell filter paper, or blood collected in tubes containing EDTA and dried on filter paper
Specimen Volume: 2 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. At least 2 spots should be complete (ie, unpunched).
3. Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Specimen Stability Information: Ambient (preferred) 7 days/Refrigerated 14 days/Frozen 90 days
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Acceptable:
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
Specimen Minimum Volume
Blood Spots: 1
Whole Blood: 0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Varies | ||
Reject Due To
| Blood spot specimen that shows serum rings or has multiple layers | Reject |
| Insufficient specimen | Reject |
| Unapproved filter papers | Reject |
Special Instructions
Day(s) Performed
Monday through Friday
Report Available
3 to 5 daysMethod Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Tyrosinemia Follow Up Panel, BSPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Secondary ID
607550CPT Code Information
84510
84030
82542
80299
82542 only (if appropriate for government payers)
Reference Values
TYROSINE:
<4 weeks 40-280 nmol/mL
≥4 weeks 25-150 nmol/mL
PHENYLALANINE:
27-107 nmol/mL
METHIONINE
11-45 nmol/mL
SUCCINYLACETONE:
≤1.0 nmol/mL
NITISINONE:
≤0.5 nmol/mL
Test 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.Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Testing Algorithm
For more information see Newborn Screen Follow-up for Elevated/Normal Tyrosine, Elevated Succinylacetone
SANFORD LABORATORY INTERFACE BUILD INFORMATION
| Result Code | Result Code Description |
|---|---|
| 27975 | Tyrosine |
| 27976 | Phenylalanine |
| 27977 | Methionine |
| 27978 | Succinylacetone |
| 27979 | Nitisinone |
| 27980 | Reason for Referral |
| 27981 | Reviewed By |