Succinylacetone, Blood Spot

Alphabetical Test listing

Succinylacetone, Blood Spot-994

Restricted: order only as a follow-up to an abnormal newborn screen

  
Succinylacetone, Blood Spot
  
994
  
LAB994
  
MSO
  
TYR
Tyrosinemia I
Tyrosinemia Type I
Tyr-1
HT-1
Hepatorenal tyrosinemia
  
Succinylacetone
Tyrosine
  
  • Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine
  • Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of FAH
  
Blood spot
  

Blood Spot Collection Card (Filter Paper) (T493)

  
2 blood spots
  
1 blood spot
  
  1. At least 1 spot should be complete (ie, unpunched).
  2. Do not expose specimen to heat or direct sunlight.
  3. Do not stack wet specimens.
  4. Keep specimen dry.
  5. If collection of a new specimen is necessary, let blood dry on the Blood Spot Collection Card (T493) at ambient temperature in a horizontal position for a minimum of 3 hours.
  

Blood spot collection card

  
EDTA whole blood
  

Lavender (EDTA), 4mL

  
2 mL
  

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10, times to prevent clotting

  
  • Do not spin
  • Submit original tube
  

Lavender (EDTA), 4mL

  

Blood spot collection card:

Ambient (preferred) - 7 days

Refrigerated - 14 days

Frozen - 90 days

EDTA whole blood:

Refrigerated - 6 days

  
Mayo Clinical Laboratories (SUAC); R-NX
  
Mo - Fr
  
3 - 5 days
  

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

  

Succinylacetone: ≤1.0 nmol/mL

Tyrosine:

<4 weeks: 40 - 280 nmol/mL

≥ 4 weeks: 25 - 150 nmol/mL

 

  
84510
82542
82542 (if appropriate)
  
05/13/2025
  
05/13/2025