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Test Code SUAC Succinylacetone, Blood Spot

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Reporting Name

Succinylacetone, BS

Specimen Type

Whole blood


Ordering Guidance


The preferred test for diagnosis and monitoring of patients with tyrosinemia type 1 is TYRBS / Tyrosinemia Follow Up Panel, Blood Spot.



Necessary Information


Patient's age is 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 tube containing EDTA and dried on filter paper.

Specimen Volume: 2 blood spots

Collection Instructions:

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.

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


Reject Due To

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

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Varies

Specimen Minimum Volume

Blood Spot: 1
Whole Blood: 0.5 mL

Day(s) Performed

Monday through Friday

Specimen Retention Time

1 year

Report Available

3 to 5 days

Reference Values

SUCCINYLACETONE

≤1.0 nmol/mL

 

TYROSINE

<4 weeks: 40-280 nmol/mL

≥4 weeks: 25-150 nmol/mL

Useful For

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

CPT Code Information

84510

82542

82542 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SUAC Succinylacetone, BS 53231-7

 

Result ID Test Result Name Result LOINC Value
22714 Interpretation 59462-2
607629 Succinylacetone 53231-7
607630 Tyrosine 35571-9
22716 Reviewed By 18771-6

Genetics Test Information

This test is a second-tier newborn screen for tyrosinemia type 1.