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Test ID 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:



Specimen Type: Blood spot

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)


Preferred: Blood Spot Collection Card

Acceptable: Whatman Protein Saver 903 Paper, PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell filter paper, or blood collected in tubes containing heparin, ACD or 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 of age is a fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick.

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) 90 days/Refrigerated 90days/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)



Specimen Type: Whole blood


Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium or lithium heparin) and yellow top (ACD)

Specimen Volume: 2 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Refrigerate (preferred) 4 days/Ambient 4 days

Useful For

Monitoring of individuals with tyrosinemia type I (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

Genetics Test Information

This test assists in the diagnosis of tyrosinemia type 1 (HT-1) and monitoring of the effectiveness of 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cycohexanedione (NTBC; nitisinone) and dietary therapy in patients with HT-1.

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Tyrosinemia Follow Up Panel, BS

Specimen Type

Whole blood

Specimen Minimum Volume

Blood Spots: 1
Whole Blood: 0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Varies

Reference Values


<4 weeks 40.0-280.0 nmol/mL

≥4 weeks 25.0-150.0 nmol/mL



27.0-107.0 nmol/mL



11.0-45.0 nmol/mL



<1.00 nmol/mL



<0.7 nmol/mL

Day(s) Performed

Monday through Friday

Report Available

3 to 5 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information






82542 only (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TYRBS Tyrosinemia Follow Up Panel, BS 94573-3


Result ID Test Result Name Result LOINC Value
607553 Tyrosine 35571-9
607554 Phenylalanine 29573-3
607555 Methionine 47700-0
607556 Succinylacetone 53231-7
607557 Nitisinone 85098-2
BG722 Reason for Referral 42349-1
607552 Reviewed By 18771-6

NY State Approved