Methodology
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Specimen Type
Whole Blood
Performing Lab
Mayo Medical Laboratory
Epic ID
Other Reference Test
Lab Test Days
Mon thru Friday
Standard TAT
3 to 5 days
Collection Information
Specimen Required
Blood Spot Collection Card
Collection Instructions
At least 2 spots should be complete (ie, unpunched). Whole Blood in Lavender Top (EDTA also acceptable.
Processing Information - Lab Use Only
Transport Temperature
Ambient. Lavender Top (EDTA) Refrigerated
Specimen Stability
Room Temp (preferred): 7 Days; Refrigerated: 14 Days. Lavender Top (EDTA) 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 Blood spots; Lavender Top (EDTA) 2 ml
Minimum Test Volume
1 blood spot, Lavender Top 0.5ml
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. Do not stack wet specimens. Keep specimen dry. If sending Lavender Top (EDTA) DO NOT aliquot. Send in original tube.
Included Tests
Tyrosine, Phenylalanine, Methionine, Succinylacetone, 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.
CPT Codes
84510, 84030, 82542, 80299, 82542 (not genetic)
Revised
5/14/26
Initials
IM