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Test Code TYRSC Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot


Necessary Information


1. Patient's age is required.

2. Patient's street address, city, state, ZIP (postal) code, country, and home phone are required (post-office [PO] boxes are not acceptable delivery locations).



Specimen Required


Supplies: Blood Spot Collection-Self Collect (T858)

Container/Tube: Blood Spot Self Collection Card

Specimen Volume: 2 Blood spots

Additional Information:

1. Order test each time the patient is to collect a dried blood specimen at home and mail the specimen directly to Mayo Clinic Laboratories.

2. Order should be placed a minimum of 3 days prior to desired date of collection.

3. Enter patient's address information for each order created, including street address (post-office [PO] boxes are not acceptable delivery locations), city, state abbreviation, zip code, country, and home phone number.

4. For each order, the Blood Spot Collection-Self Collect kit will be mailed directly to the patient for self-collection (delivery to a PO box will not occur).

5. For more information on how to collect blood spots, see the following

-How to Collect Dried Blood Spot Samples via fingerstick.

-Blood Spot Collection Instructions-Fingerstick

-Blood Spot Collection Instructions-Fingerstick-Spanish


Useful For

Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen

Method Name

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

Reporting Name

Tyrosinemia Follow Up Panel, SC, BS

Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 7 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Refrigerated  14 days FILTER PAPER

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

Interpretation

Quantitative results with reference values are reported without added interpretation. When applicable, reports of abnormal results may contain an interpretation based on available clinical information.

Clinical Reference

1. Chinsky JM, Singh R, Ficiciolglu C, et al. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12). doi:10.1038/gim.2017.101

2. Laeremans H, Turner C, Andersson T, et al. Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples. JIMD Rep. 2020;53(1):90-102

3. Mitchell GA, Grompe M, Lambert M, Tanguay RM. Hypertyrosinemia. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA.  eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed December 26, 2023. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225082825&bookid=2709#225082946

4. Blackburn PR, Hickey RD, Nace RA, et al. Silent tyrosinemia type I without elevated tyrosine or succinylacetone associated with liver cirrhosis and hepatocellular carcinoma. Hum Mutat. 2016;37(10):1097-1105. doi:10.1002/humu.23047

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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

0383U

LOINC Code Information

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

 

Result ID Test Result Name Result LOINC Value
610503 Tyrosine 35571-9
610504 Phenylalanine 29573-3
610505 Methionine 47700-0
610506 Succinylacetone 53231-7
610507 Nitisinone 85098-2
BG728 Reason for Referral 42349-1
610502 Reviewed By 18771-6
BG729 Patient Street Address (No PO Box) 56799-0
BG730 Patient City 68997-6
BG731 Patient State 46499-0
BG732 Patient Zip Code 45401-7
BG741 Patient Country 77983-5
BG733 Patient Home Phone 42077-8

Day(s) Performed

Monday through Friday

Report Available

3 to 5 days