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Order 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

Genetics Test Information

This test is intended for therapeutic monitoring of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cycohexanedione (NTBC; nitisinone) and dietary patients with tyrosinemia type 1.

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

Reject Due To

Blood spot specimen that shows serum rings or has multiple layers Reject
Insufficient specimen Reject
Unapproved filter papers Reject

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

Method Description

A 3-mm disk is punched out of the dried blood spot onto a 96-well plate. The amino acids and nitisinone are extracted by the addition of acetonitrile and known concentrations of isotopically labeled amino acids as internal standards. The extract is moved to another 96-well plate, dried under a stream of nitrogen, and derivatized by the addition of n-butanol hydrochloric acid. Analytes are measured by liquid chromatography-tandem mass spectrometry. The concentrations of the analytes are established by computerized comparison of ion intensities of these analytes to that of the respective internal standards.(Unpublished Mayo method)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

0383U

Day(s) Performed

Monday through Friday