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Succinylacetone, Blood Spot
Test Code10171
CPT Codes
82542, 84510<br>Restricted Client Code
Preferred Specimen
2 blood spots collected on Card-Blood Spot Collection (Filter Paper) (T493)
Minimum Volume
1 blood spot • 0.5 mL whole blood
Other Acceptable Specimens
2 blood spot collected on Whatman Protein Saver 903 Paper, PerkinElmer 226 filter paper, Munktell filter paper, or blood collected in tube containing EDTA and dried on filter paper • 2 mL whole blood collected in an EDTA (lavender-top) tube
Instructions
Necessary Information: Patient's age is required.
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.
--or--
Acceptable Specimen Type:
Whole Blood Lavender top (EDTA) Specimen. Send whole blood specimen in original tube. Do not aliquot.
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.
--or--
Acceptable Specimen Type:
Whole Blood Lavender top (EDTA) Specimen. Send whole blood specimen in original tube. Do not aliquot.
Transport Temperature
Filter paper: Room temperature
Whole blood: Refrigerated (cold packs)
Whole blood: Refrigerated (cold packs)
Specimen Stability
Filter paper
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 90 days
Whole blood
Room temperature: Unacceptable
Refrigerated: 6 days
Frozen: Unacceptable
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 90 days
Whole blood
Room temperature: Unacceptable
Refrigerated: 6 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Blood spot specimen that shows serum rings or has multiple layers • Insufficient specimen • Unapproved filter papers.
Methodology
Liquid Chromatography/Tandem Mass Spectrometry
FDA Status
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
Setup Schedule
Set up: Mon-Fri; Report available: 3-7 days
Reference Range
Succinylacetone
≤ 1.0 nmol/mL
Tyrosine
<4 weeks: 40-280 nmol/L
≥4 weeks: 25-150 nmol/L
≤ 1.0 nmol/mL
Tyrosine
<4 weeks: 40-280 nmol/L
≥4 weeks: 25-150 nmol/L
Clinical Significance
Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine.
Diagnosis of HT-1 when used in conjunction with testing for urine organic acids (OAU), liver function tests, alpha- fetoprotein, and molecular genetic analysis of FAH.
Diagnosis of HT-1 when used in conjunction with testing for urine organic acids (OAU), liver function tests, alpha- fetoprotein, and molecular genetic analysis of FAH.
