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Test Id : BGABS

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Beta-Galactosidase, Blood Spot

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Overview

Test Catalog

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

Diagnosis of beta-galactosidase deficiency (GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis) using blood spot specimens

 

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

Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.

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

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

Fluorometric Enzyme Assay

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

Beta-Galactosidase, BS

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

B-Galactosidase

Cathepsin A Deficiency

G[M1] Gangliosidosis

Galactosialidosis

Galactosidase, Beta

Generalized Gangliosidosis, G(M1)

GLB1 Deficiency

GM1 Gangliosidosis

Morquio B

Morquio Disease

Morquio Syndrome

Morquio's B

Morquio's Disease

MPS IVB

Mucopolysaccharidosis IVb

PPCA (Protective Protein/Cathepsin A) Deficiency

Protective Protein Deficiency

Protective Protein/Cathepsin A (PPCA) Deficiency

MPS IV

CTSA Deficiency

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

Necessary Information

Provide a reason for testing with each specimen.

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: Blood spot collection card (T493)

Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper and Whatman Protein Saver 903 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 infants younger than 1 year, a heel stick should be used. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick.

2. Let blood dry on the 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.

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

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

1 Blood spot

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

Shows serum rings Multiple layers 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 Ambient (preferred) 28 days FILTER PAPER
Frozen 90 days FILTER PAPER
Refrigerated 90 days FILTER PAPER

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

Diagnosis of beta-galactosidase deficiency (GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis) using blood spot specimens

 

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

Beta-galactosidase enzyme is deficient in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.

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

Beta-galactosidase is a lysosomal enzyme responsible for catalyzing the breakdown of gangliosides. The deficiency of this enzyme can be seen in the following conditions: GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis. Enzymatic testing is not reliable for carrier detection of these conditions.

 

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by reduced or absent beta-galactosidase activity. Absent or reduced activity leads to the accumulation of GM1 gangliosides, oligosaccharides, and keratan sulfate. The disorder can be classified into 3 subtypes that vary with respect to age of onset and clinical presentation. Type 1, or infantile onset, typically presents between birth and 6 months of age with a very rapid progression of hypotonia, dysostosis multiplex, hepatosplenomegaly, central nervous system degeneration, and death usually by 1 to 2 years of age. Type 2 is generally classified as late infantile or juvenile with onset between 7 months and 3 years of age, presenting with developmental delays, and a having a slower progression. Type 3 is an adult or chronic variant with onset between 3 and 30 years of age and is typically characterized by slowly progressive dementia with parkinsonian features and dystonia. The incidence has been estimated to be 1 in 100,000 to 200,000 live births.

 

Mucopolysaccharidosis type IVB (MPS IVB or Morquio syndrome B) is an autosomal recessive lysosomal storage disorder caused by reduced or absent beta-galactosidase activity leading to the accumulation of glycosaminoglycans, particularly keratan sulfate, in lysosomes and interferes with normal functioning of cells, tissues, and organs. MPS IVB typically manifests as a systemic skeletal disorder with variable severity ranging from early severe disease to a later onset attenuated form. Virtually all patients have dysostosis multiplex and short stature along with other symptoms that may include coarse facies, hepatosplenomegaly, hoarse voice, stiff joints, cardiac disease, but no neurological involvement.

 

Galactosialidosis (GS) is an autosomal recessive lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase secondary to a defect in the cathepsin A protein. The disorder can be classified into 3 subtypes that vary with respect to age of onset and clinical presentation. Typical clinical presentation is coarse facial features, cherry-red spots, and skeletal dysplasia. The early infantile form is associated with fetal hydrops, skeletal dysplasia, and early death, while the late infantile form is characterized by short stature, dysostosis multiplex, coarse facial features, corneal clouding, hepatosplenomegaly, and heart valve problems. Individuals of Japanese ancestry makeup the majority of patients with the juvenile/adult form of GS and typically develop symptoms after 4 years of age. These include neurologic degeneration, ataxia, and angiokeratomas.

 

A diagnostic workup in an individual with GM1 gangliosidosis, Morquio B, or galactosialidosis typically demonstrates decreased beta-galactosidase enzyme activity in leukocytes or fibroblasts; however, additional testing and consideration of the patient's clinical findings are necessary to differentiate between these conditions. Follow-up testing may include LSDS / Lysosomal Storage Disorders Screen, Random, Urine, which analyzes urine mucopolysaccharides, oligosaccharides, ceramide trihexosides, and sulfatides. The LSDS test can help differentiate between the 3 conditions to guide physicians in choosing the best confirmatory molecular testing option. See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1

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.

> or =5.0 nmol/hour/mL

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

Properly submitted specimens with results less than 5.0 nmol/h/mL are consistent with beta-galactosidase deficiency (GM1 gangliosidosis, Morquio syndrome B, or galactosialidosis). Further differentiation between GM1, Morquio syndrome B, and galactosialidosis is dependent on the patient's clinical findings and results of additional biochemical testing.

 

Normal results (> or =5.0 nmol/hour/mL) are not consistent with beta-galactosidase deficiency.

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

This test cannot reliably determine carrier status.

 

This test does not differentiate between GM1 gangliosidosis, Morquio syndrome B, and galactosialidosis.

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

1. Suzuki Y, Nanba E, Matsuda J, et al: Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed January 5, 2022. Available at

https://ommbid.mhmedical.com/content.aspx?sectionid=225547263

2. Regier DS, Tifft CJ: GLB1-related disorders. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. Updated 29 Aug 2019. Accessed January 5, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK164500/

3. d'Azzo A, Andria G, Bonten E, Annunziata I: Galactosialidosis. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed January 5, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225547663

4. Arash-Kaps L, Komlosi K, Seegraber M, et.at: The clinical and molecular spectrum of GM1 gangliosidosis. Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016

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 one-eighth inch (3-mm) disk is punched out of the dried blood spot into a 96-well, round-bottom plate with citrate-phosphate buffer as elution liquid and 4-methylumbelliferyl-beta-D-galactopyranoside in water as the substrate. A blank is prepared using only elution liquid, substrate, and filter paper punches containing no blood. All patients, controls, and blank are set up in duplicate. After the incubation period, the liquid from the plate is transferred to a 96-well, flat-bottom black plate. A calibration curve is prepared and analyzed on every plate to calculate enzyme activity results, based on fluorescence units in patient wells vs calibrators. The calibration is derived from 4-methylumbelliferone (4-MU) that is serially diluted manually in the plate with the highest calibrator being equivalent to an enzyme activity of 10.4 nmol/hour/mL. Stop buffer is added to all wells (patients, quality controls, blanks, calibrators). The plate is then read on the spectrofluorometer. Fluorescence readings for duplicate wells are averaged, and the average fluorescence is used to calculate the enzyme activity result.(Civallero G, Michelin K, de Mari J, et al: Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin Chim Acta. 2006 Oct;372(1-2):98-102; Cowan T, Pasquali M: Laboratory Investigations of Inborn Errors of Metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)

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.

Wednesday

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 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.

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
BGABS Beta-Galactosidase, BS 55916-1
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.
60986 Beta-Galactosidase, BS 55916-1
34429 Reason for Referral 42349-1
34431 Reviewed By 18771-6
34430 Interpretation 69047-9

Test Setup Resources

Setup Files
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Excel | Create a 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