Test Catalog

Test Id : ARSAB

Arylsulfatase A, Blood Spot

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

Enzymatic test for detection of arylsulfatase A deficiency

 

This test is not suitable for carrier detection.

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

Metachromatic leukodystrophy is caused by deficient activity of arylsulfatase A (ARSA) enzyme and is characterized by progressive neurologic changes and leukodystrophy with variable age of onset.

 

Pseudodeficiency of ARSA enzyme has been recognized among patients with other unrelated neurologic conditions as well as among the general population.

 

Additional studies, such as molecular genetic testing of ARSA (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify ARSA Gene List ID: IEMCP-WHFH2K), urinary excretion of sulfatides (CTSU / Ceramide Trihexosides and Sulfatides, Random, Urine), and, if necessary, histological analysis for metachromatic lipid deposits in nervous system tissue are recommended to confirm a diagnosis.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Flow Injection Analysis Tandem Mass Spectrometry (MS/MS)

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

No

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

Arylsulfatase A, BS

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

ARSA Deficiency

Arylsulfatase A Deficiency

Metachromatic Leukodystrophy

MLD

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Specimen Type
Describes the specimen type validated for testing

Whole blood

Ordering Guidance

This test primarily serves as a second-tier assay to be used by newborn screening programs to screen for metachromatic leukodystrophy when first tier sulfatide analysis is abnormal. The test can also be used to screen patients at risk for metachromatic leukodystrophy.

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

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Card-Blood Spot Collection (Filter Paper)

Acceptable: PerkinElmer 226 filter paper, Munktell filter paper, Whatman protein Saver 903 paper, local newborn screening card, or blood collected in tubes containing EDTA (preferred) or heparin and dried on filter paper

Specimen Volume: 2 Blood spots

Collection Instructions:

1. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

2. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry and freeze (with desiccant if necessary).

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)

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. The minimum volume is sufficient for one attempt at testing.

1 Blood spot

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
Nonapproved filter paper 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 Frozen (preferred) 28 days FILTER PAPER
Refrigerated 14 days FILTER PAPER

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

Enzymatic test for detection of arylsulfatase A deficiency

 

This test is not suitable for carrier detection.

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

Metachromatic leukodystrophy is caused by deficient activity of arylsulfatase A (ARSA) enzyme and is characterized by progressive neurologic changes and leukodystrophy with variable age of onset.

 

Pseudodeficiency of ARSA enzyme has been recognized among patients with other unrelated neurologic conditions as well as among the general population.

 

Additional studies, such as molecular genetic testing of ARSA (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify ARSA Gene List ID: IEMCP-WHFH2K), urinary excretion of sulfatides (CTSU / Ceramide Trihexosides and Sulfatides, Random, Urine), and, if necessary, histological analysis for metachromatic lipid deposits in nervous system tissue are recommended to confirm a diagnosis.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Metachromatic leukodystrophy (MLD) is a lysosomal disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA), which leads to the accumulation of sulfatides (both galactosyl and lactosyl sulfatide) in the white matter of the central nervous system, the peripheral nervous system, and, to a lesser extent, in visceral organs including the kidney and gallbladder. Cells that produce myelin are especially affected causing the characteristic leukodystrophy seen in MLD. Patients with MLD excrete excessive amounts of sulfatides in their urine.

 

The 3 clinical forms of MLD are late-infantile, juvenile, and adult, depending on age of onset. All forms result in progressive neurologic changes and leukodystrophy demonstrated on magnetic resonance imaging. To date, late-infantile MLD is most commonly diagnosed (50%-60% of cases) and usually presents before 30 months of age with hypotonia, clumsiness, diminished reflexes, and dysarthric speech. Progressive neurodegeneration occurs and, unless successfully treated, most patients do not survive past childhood. Juvenile MLD (20%-30% of cases) is characterized by onset between 30 months to 16 years old. Presenting features are behavior problems, declining school performance, clumsiness, and slurred speech. Neurodegeneration occurs at a somewhat slower and more variable rate than the late-infantile form. Adult MLD (15%-20% of cases) has an onset after puberty and can be as late as the fourth or fifth decade. Presenting features are often behavior and personality changes, including psychiatric symptoms. Clumsiness, neurologic symptoms, and seizures are also common. The disease course has variable progression and may occur over 2 to 3 decades.

 

Metachromatic leukodystrophy is an autosomal recessive disorder caused by disease-causing variants in the ARSA gene. This disorder is distinct from conditions caused by deficiencies of arylsulfatase B (Maroteaux-Lamy disease) and arylsulfatase C (steroid sulfatase deficiency). Saposin B deficiency is a rare autosomal recessive disorder with symptoms that mimic MLD; however, ARSA activity is not deficient. Like MLD, patients with saposin B deficiency can excrete excessive amounts of sulfatides in their urine. Individuals with multiple sulfatase deficiency, which is clinically distinct from MLD, will also have deficiency of ARSA, however, other sulfatase enzymes will also be deficient.

 

Individuals with "pseudodeficiency" of ARSA have very low levels of ARSA activity but are otherwise healthy. Pseudodeficiency has been found among patients with other unrelated neurologic conditions as well as among the general population, therefore a diagnosis of MLD cannot be based upon reduced ARSA activity alone. To confirm a diagnosis, additional studies, such as molecular genetic testing of ARSA (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify Gene List ID: IEMCP-WHFH2K), urinary excretion of sulfatides (CTSU / Ceramide Trihexosides and Sulfatides, Random, Urine), and/or histological analysis for metachromatic lipid deposits in nervous system tissue are recommended. While sulfatides appear to be elevated in newborn dried blood spots and is used as a primary newborn screening test, the utility of sulfatide analysis in dried blood spots outside of newborn screening has not been determined.

 

Current treatment options for MLD depend on the clinical stage and presence of neurologic symptoms. Early diagnosis is extremely important to improve clinical outcomes. Allogenic hematopoietic stem cell transplant can treat symptoms related to the central nervous system in pre- and very early-symptomatic juvenile- or adult-onset MLD. Recently, autologous hematopoietic stem cell-based gene therapy has been approved in the U.S. and elsewhere for individuals with presymptomatic late-infantile MLD, presymptomatic juvenile MLD, or early-symptomatic juvenile MLD with maintained ability to walk and before the onset of cognitive decline.

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.

Normal: > or =0.100 mmol/mL/hr

Interpretation
Provides information to assist in interpretation of the test results

Reduced levels of arylsulfatase A (ARSA) are seen in patients with metachromatic leukodystrophy (MLD), however some patients with MLD may have normal results by this method.

 

Individuals with pseudodeficiency of ARSA can have results in the affected range but are otherwise unaffected with MLD.

 

Reduced levels of ARSA are also possible when samples have been left at room temperature after drying.

 

Abnormal results and/or clinical suspicion should be confirmed using CTSU / Ceramide Trihexosides and Sulfatides, Random, Urine and molecular genetic testing of ARSA (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify Gene List ID: IEMCP-WHFH2K).

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

This test is not reliable in identifying carriers.

 

Arylsulfatase A (ARSA) is also deficient in individuals with multiple sulfatase deficiency and possibly in saposin B deficiency.

 

Specimens not immediately refrigerated or frozen after drying may yield falsely low ARSA activity results.

 

This disorder is distinct from conditions caused by deficiencies of arylsulfatase B (Maroteaux-Lamy disease) and arylsulfatase C (steroid sulfatase deficiency).

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

1. Gomez-Ospina N. Arylsulfatase A deficiency. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1993-2025. Updated April 25, 2024. Accessed June 4, 2025. Available from: www.ncbi.nlm.nih.gov/books/NBK1130/

2. Fumagalli F, Calbi V, Natali Sora MG, et al. Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access. Lancet. 2022;399(10322):372-383. doi:10.1016/S0140-6736(21)02017-1

3. Fumagalli F, Zambon AA, Rancoita PMV, et al. Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients. J Inherit Metab Dis. 2021;44(5):1151-1164. doi:10.1002/jimd.12388

4. Laugwitz L, Mechtler TP, Janzen N, et al. Newborn screening and presymptomatic treatment of metachromatic leukodystrophy. N Engl J Med. 2024;391(13):1256-1258. doi:10.1056/NEJMc2407165

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

A 3 mm sample is excised from a dried blood spot (DBS) specimen. Arylsulfatase A is isolated from the DBS aliquot by mixing with extraction reagent on a rotating incubator. The enzyme is then purified from the matrix using size exclusion chromatography. The sample is then incubated in the presence of internal standard, substrate, and assay buffer. Next, salts are removed using liquid/liquid extraction. A final purification step using solid phase extraction is performed before the dried down and reconstituted specimen is analyzed by flow injection tandem mass spectrometry.(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, Thursday

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 6 days

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

6 months

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

Mayo Clinic Laboratories - Rochester Main Campus
CLIA Number: 24D0404292

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.

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  • Prospective clients should contact their account representative. 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. It 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.

82657

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
ARSAB Arylsulfatase A, BS 55912-0
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.
623015 Interpretation 59462-2
623013 Arylsulfatase A 55912-0
623014 Reviewed By 18771-6

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