Test Catalog

Test Id : MSDBS

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Multiple Sulfatase Deficiency, Blood Spot

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Overview

Test Catalog

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

Supporting the biochemical diagnosis of multiple sulfatase deficiency

 

This test is not useful 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

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
MPSBS Mucopolysaccharidosis, BS Yes No

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

If results are normal, testing is complete.

 

If results indicate multiple sulfatase deficiency, quantitation of heparan sulfate, dermatan sulfate and keratan sulfate may be performed at an additional charge.

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

Multiple sulfatase deficiency, BS

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

GALNS

Galactosamine-6-sulfate sulfatase

Heparan-N-sulfatase

Heparan sulfate sulfatase

I2S

Multiple Sulfatase deficiency

MSD

Iduronate-2-sulfatase

N-acetylgalactosamine-6-sulfatase

SGSH

SUMF1

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

If results are normal, testing is complete.

 

If results indicate multiple sulfatase deficiency, quantitation of heparan sulfate, dermatan sulfate and keratan sulfate may be performed at an additional charge.

Specimen Type
Describes the specimen type validated for testing

Whole blood

Necessary Information

1. Patient's age is required.

2. Reason for testing is required.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
BG755 Reason for Referral Rule out MSD
Follow up of known MSD
Multiple Sulfatase deficiency
Not Provided

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 filter paper, Munktell filter paper, or blood collected in tubes containing ACD or EDTA and dried on filter paper.

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient 1 year of age or older is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.

2. At least 2 spots should be complete (ie, unpunched).

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

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

5. Do not stack wet specimens.

6. Keep specimen dry.

Specimen Stability Information: Refrigerated (preferred) 60 days/Ambient 7 days/Frozen 60 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: Yellow top (ACD)

Specimen Volume: 2 mL

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

Specimen Stability Information: Refrigerate (preferred) 7 days/Ambient 48 hours

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

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

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.

Blood Spots: 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

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

Supporting the biochemical diagnosis of multiple sulfatase deficiency

 

This test is not useful 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

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

If results are normal, testing is complete.

 

If results indicate multiple sulfatase deficiency, quantitation of heparan sulfate, dermatan sulfate and keratan sulfate may be performed at an additional charge.

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

Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal disorder caused by mutations in the sulfatase-modifying factor 1 (SUMF1) gene. SUMF1 encodes for a formylglycine-generating enzyme that performs a critical posttranslational modification necessary for activation of all human sulfatases, including arylsulfatase A and B. The clinical features of MSD encompass symptoms of every single sulfatase deficiency, including metachromatic leukodystrophy (MLD), the mucopolysaccharidoses, X-linked ichthyosis, and chondrodysplasia punctata type I. Age of onset and clinical severity are variable and correspond with the level of residual enzyme activity. A severe neonatal form of MSD closely overlaps the clinical presentation of the mucopolysaccharidoses, but it is often fatal within 1 year. Late-infantile MSD (onset 0-2 years) accounts for most cases and is characterized by a clinical presentation similar to MLD.

 

A diagnostic workup for MSD demonstrates reduced enzyme activity of several sulfatase enzymes including those on this panel (iduronate-2-sulfatase, heparan sulfate sulfatase, galactosamine-6-sulfate sulfatase, and arylsulfatase B). Individuals with MSD typically have an increased urinary excretion of sulfatides as well as increased urinary glycosaminoglycans, therefore a combined analysis of urine ceramide trihexoside, mucopolysaccharides, oligosaccharides, and sulfatides (LSDS/ Lysosomal Storage Disorders Screen, Random, Urine) may support a diagnosis. Molecular genetic analysis of the SUMF1 gene (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify Gene List ID: IEMCP-PCUBX1) allows for detection of disease-causing variants in affected patients and subsequent carrier detection in relatives.

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.

Iduronate-2-sulfatase: >4.30 nmol/mL/hour

Heparan-N-sulfatase: >0.06 nmol/mL/hour

N-acetylgalactosamine-6-sulfatase: >0.70 nmol/mL/hour

 

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

Abnormal results are not sufficient to establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on this assay, additional biochemical or molecular genetic analyses are required.

 

When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro, confirmatory studies (enzyme assay, molecular genetic analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

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

Individuals with pseudodeficiency alleles can show reduced enzyme activity.

 

Carrier status (heterozygosity) for these conditions cannot be reliably detected.

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

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed July 14, 2023. https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225544161

2. Hopwood JJ, Ballabio A. Multiple sulfatase deficiency and the nature of the sulfatase family. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; Accessed July 14, 2023. https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225546905

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

One dried blood spot sample (DBS) is incubated with a mix of substrate and internal standard (IS) for iduronate 2-sulfatase, heparan N-sulfatase, alpha-N-acetylglucosaminidase, N-acetylgalactosamine-sulfate, beta-galactosidase, arylsulfatase B, beta-glucuronidase, and tripeptidyl peptidase 1. A second DBS sample is incubated with a mix of substrate and IS for acetyl-CoA:alpha-glucosaminide N-acetyltransferase; and a third DBS sample with a mix of substrate and IS for palmitoyl-protein thioesterase 1. Following overnight incubation, the samples are combined, extracted by liquid-liquid extraction, and analyzed by 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.

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.

8 to 15 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 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

83864 (if appropriate)

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
MSDBS Multiple sulfatase deficiency, BS 104116-9
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.
BG755 Reason for Referral 42349-1
618430 Iduronate-2-sulfatase 79462-8
618431 Heparan-N-sulfatase 104113-6
618432 N-acetylgalactosamine-6-sulfatase 88019-5
618433 Interpretation 59462-2
618429 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

Test Update Resources

Change Type Effective Date
New Test 2023-10-17