Home
HelpTest Code TYRBS Tyrosinemia Follow Up Panel, Blood Spot
Necessary 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
CMH COLLECTION: 2 spots on Mayo blood spot card. Contact Sendout Lab for collection card
Specimen Minimum Volume
Blood Spots: 1
Whole Blood: 0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Varies | ||
Testing Algorithm
For more information see Newborn Screen Follow-up for Elevated/Normal Tyrosine, Elevated Succinylacetone
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
Reject Due To
| Blood spot specimen that shows serum rings or has multiple layers | Reject |
| Insufficient specimen | Reject |
| Unapproved filter papers | Reject |
Day(s) Performed
Monday through Friday
Report Available
3 to 5 daysReporting Name
Tyrosinemia Follow Up Panel, BSReference 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
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
84510
84030
82542
80299
82542 only (if appropriate for government payers)