Test Catalog

Test Id : SUAC

Succinylacetone, Blood Spot

Useful For
Suggests clinical disorders or settings where the test may be helpful

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 ,liver function, alpha-fetoprotein, and molecular genetic analysis of FAH

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

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

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Succinylacetone, BS

Aliases
Lists additional common names for a test, as an aid in searching

Blood Spots

Newborn Screen

Newborn Screening

Succinylacetone

TYR

Tyrosinemia I

Tyrosinemia Type I

Tyr-1

HT-1

Hepatorenal tyrosinemia

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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 (formerly Ahlstrom 226) filter paper, Munktell filter paper, or blood collected in tube containing heparin, ACD or 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) 90 days/Refrigerated 90 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:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium or lithium heparin) and yellow top (ACD)

Specimen Volume: 2 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Refrigerate (preferred) 4 days/Ambient 4 days

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood Spot: 1

Whole Blood: 0.5 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Whole blood Varies (preferred)

Useful For
Suggests clinical disorders or settings where the test may be helpful

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 ,liver function, alpha-fetoprotein, and molecular genetic analysis of FAH

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Tyrosinemia type 1 (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). HT-1 primarily affects the liver, kidneys, and peripheral nerves causing severe liver disease, renal tubular dysfunction, and neurologic crises. If left untreated, most patients die of liver failure in the first years of life, and all are at risk of developing hepatocellular carcinoma. Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3 cyclohexanedione (NTBC) is available and is particularly effective when initiated in newborns. The incidence of HT-1 is approximately 1 in 100,000 live births.

 

While tyrosine can be determined by routine newborn screening, it is not a specific marker for tyrosinemia type I and often may be associated with common and benign transient tyrosinemia of the newborn. Succinylacetone is a specific marker for HT-1 but not consistently measured by newborn screening programs. This assay determines succinylacetone and tyrosine in newborn blood spots by tandem mass spectrometry. Additional follow-up testing may include confirmatory molecular analysis of the FAH gene.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

SUCCINYLACETONE

<1.00 nmol/mL

 

TYROSINE

<4 weeks: 40.0-280.0 nmol/mL

> or =4 weeks: 25.0-150.0 nmol/mL

Interpretation
Provides information to assist in interpretation of the test results

Elevations of succinylacetone (SUAC) above the reference range with or without elevations of tyrosine (TYR) are indicative of tyrosinemia type 1.

 

Elevations of TYR above the reference range without elevations of SUAC may be suggestive of tyrosinemia type II, type III, transient hypertyrosinemia of the neonate, or nonspecific liver disease.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Normal levels may be seen in affected individuals undergoing treatment.

 

In rare cases of tyrosinemia type I, tyrosine and/or succinylacetone may not be elevated.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Larochelle J, Alvarez F, Bussieres JF, et al: Effects of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab. 2012 Sep;107(1-2):49-54

2. Sniderman King L, Trahms C, Scott CR: Tyrosinemia Type I. In: MP Adam, HH Ardinger, PA Pagon et al, eds: GeneReviews [Internet]. University of Washington, Seattle; 2006. Updated May 25, 2017. Accessed January 6, 2022. Available at: www.ncbi.nlm.nih.gov/books/NBK1515/

3. De Jesus VR, Adam BW, Mandel D, Cuthbert CD, Matern D: Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. Mol Genet Metab. 2014 Sept- Oct;113(1-2)67-75

4. Blackburn PR, Hickey RD, Nace RA, et al: Silent tyrosinemia type I without elevated tyrosine or succinylacetone associated with liver cirrhosis and hepatocellular carcinoma. Hum Mutat. 2016 Oct;37(10):1097-1105. doi:10.1002/humu.23047

5. Chinsky JM, Singh R, Ficicioglu C et al: Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017 Aug;19(12) doi: 10.1038/gim.2017.101

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

A 3-mm disk is punched out of the dried blood spot onto a 96-well plate. Then, tyrosine is extracted by the addition of methanol and a known concentration of isotopically labeled tyrosine as internal standards. The extract is moved to another 96-well plate and dried under a stream of nitrogen. In a parallel process, succinylacetone is extracted from the residual blood spot by the addition of a methanol solution containing isotopically labeled succinylacetone as internal standard, derivatized with an acidic hydrazine solution, evaporated and combined with the tyrosine extract. Analytes are measured by liquid chromatography tandem mass spectrometry .The concentrations of the analytes are established by computerized comparison of ion intensities of these analytes to that of the respective internal standards.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 5 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 year

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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 US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

84510

82542

82542 (if appropriate for government payers)

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
SUAC Succinylacetone, BS 53231-7
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
22714 Interpretation 59462-2
22716 Reviewed By 18771-6
607629 Succinylacetone 53231-7
607630 Tyrosine 35571-9

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports