Sign in →

Order 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


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

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

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 into 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)

Day(s) Performed

Monday through Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

84510

84030

82542

80299

82542 only (if appropriate for government payers)