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Lab Test Dictionary

Tyrosinemia Follow Up Panel, Blood Spot (TYRBS)

Methodology

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

Specimen Type

Blood Spot or Whole Blood

Performing Lab

Mayo Medical Laboratory

Epic ID

Other Reference Test

Lab Test Days

Monday-Friday

Standard TAT

3-5 Days

Collection Information

Specimen Required

1-2 Spots on Blood Spot Collection Card or 0.5-2 mL Whole Blood

Container Type

Card-Blood Spot Collection (Filter Paper)

Collection Instructions

Whole Blood collected in an EDTA (lavender-top), or an ACD Solution A/B (yellow-top) tube is also acceptable. An alternative blood collection option for a patient older than 1 year is a fingerstick. Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours. Do not expose specimen to heat or direct sunlight.

Processing Information - Lab Use Only

Transport Temperature

Room Temp-OK/Refrigerated-OK/Frozen-OK

Specimen Stability

Room Temp: 7 Days (preferred); Refrigerated: 14 Days (for whole blood 6 Days); Frozen 90 Days

Rejection Criteria

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

Test Volume Required

2 Spots on Blood Spot Collection Card or 2 mL Whole Blood

Minimum Test Volume

1 Spots on Blood Spot Collection Card or 0.5 mL Whole Blood

Processing Instructions

Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours. Do not expose specimen to heat or direct sunlight. Send whole blood specimen in original tube. Do not aliquot.

Included Tests

Tyrosine, Phenylalanine, Methionine, Succinylacetone and Nitisinone

Comments

Useful for monitoring of individuals with tyrosinemia type 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. 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. Not genetic, does not require auth.