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Test ID: BGABS Beta-Galactosidase, Blood Spot

Reporting Name

Beta-Galactosidase, BS

Useful For

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

 

This test is not useful for carrier detection.

Specimen Type

Whole blood


Necessary Information


Provide a reason for referral with each specimen.



Specimen Required


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 older than 1 year of age is fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick: https://vimeo.com/508490782 .

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 in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 28 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Refrigerated  90 days FILTER PAPER

Reference Values

≥5.0 nmol/hour/mL

An interpretive report will be provided.

Day(s) Performed

Varies

Test Classification

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

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BGABS Beta-Galactosidase, BS 55916-1

 

Result ID Test Result Name Result LOINC Value
60986 Beta-Galactosidase, BS 55916-1
34430 Interpretation 69047-9
34429 Reason for Referral 42349-1
34431 Reviewed By 18771-6

Clinical Information

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 (GAG), 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 in Special Instructions.

Interpretation

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 (≥5.0 nmol/hour/mL) are not consistent with beta-galactosidase deficiency.

Clinical Reference

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 February 04, 2021. 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 February 04, 2021. 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 February 04, 2021. 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

Report Available

8 to 15 days

Method Name

Fluorometric Enzyme Assay

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

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

Testing Algorithm

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical