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Test ID: IDSBS Alpha-L-Iduronidase, Blood Spot

Reporting Name

Alpha-L-Iduronidase, BS

Useful For

Diagnosis of mucopolysaccharidosis I, Hurler, Scheie, and Hurler-Scheie syndromes using dried blood spot specimens

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: 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 is fingerstick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 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 in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. 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
Whole blood Ambient (preferred) 90 days
  Frozen  90 days
  Refrigerated  90 days

Reference Values

≥1.0 nmol/h/mL

An interpretive report will be provided.

Day(s) and Time(s) Performed

Set up Wednesday; report Thursday morning

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 U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
IDSBS Alpha-L-Iduronidase, BS In Process

 

Result ID Test Result Name Result LOINC Value
32352 Reason for Referral 42349-1
32353 Alpha-L-Iduronidase 55909-6
32354 Interpretation 59462-2

Clinical Information

The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin sulfate, also known as glycosaminoglycans (GAG). Accumulation of GAGs in lysosomes interferes with normal functioning of cells, tissues, and organs. There are 11 known disorders that involve the accumulation of GAGs. MPS disorders involve multiple organ systems characterized by coarse facial features, cardiac abnormalities, organomegaly, intellectual disabilities, short stature, and skeletal abnormalities.

 

Mucopolysaccharidosis I (MPS I) is an autosomal recessive disorder caused by a reduced or absent activity of the enzyme alpha-L-iduronidase due to mutations in the IDUA gene. More than 100 mutations have been reported in individuals with MPS I. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypes categorized into 3 syndromes: Hurler syndrome (MPS IH), Scheie syndrome (MPS IS), and Hurler-Scheie syndrome (MPS IH/S). Because these syndromes cannot be distinguished biochemically, they are also referred to as MPS I and attenuated MPS I.

 

Clinical features and severity of symptoms of MPS I are variable, ranging from severe disease to an attenuated form that generally presents at a later onset with a milder clinical presentation. In general, symptoms may include coarse facies, progressive dysostosis multiplex, hepatosplenomegaly, corneal clouding, hearing loss, intellectual disabilities or learning difficulties, and cardiac valvular disease. The incidence of MPS I is approximately 1 in 100,000 live births. Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy.

 

A diagnostic workup in an individual with MPS I typically demonstrates elevated levels of urinary GAG (MPSQN / Mucopolysaccharides [MPS], Quantitative, Urine) and increased amounts of both dermatan and heparan sulfate detected on thin-layer chromatography (MPSSC / Mucopolysaccharides [MPS] Screen, Urine). Reduced or absent activity of alpha-L-iduronidase in blood spots, fibroblasts (IDST / Alpha-L-Iduronidase, Fibroblasts), leukocytes, or whole blood (IDSWB / Alpha-L-Iduronidase, Blood) can confirm a diagnosis of MPS I; however, enzymatic testing is not reliable for carrier detection. Molecular sequence analysis of the IDUA gene allows for detection of the disease-causing mutation in affected patients and subsequent carrier detection in relatives. To date, a clear genotype-phenotype correlation has not been established.

Interpretation

Specimens with results below 1.0 nmol/hour/mL in properly submitted specimens are consistent with alpha-L-iduronidase deficiency (mucopolysaccharidosis I). Further differentiation between Hurler, Scheie, and Hurler-Scheie is dependent on the clinical findings.

 

Normal results (≥1.0 nmol/hour/mL) are not consistent with alpha-L-iduronidase deficiency.

Clinical Reference

1. Neufeld EF, Muenzer J: The mucopolysaccharidoses. Chapter 136. In The Metabolic and Molecular Basis of Inherited Disease. Eighth edition. Edited by D Valle, AL Beaudet, B Vogelstein. New York, McGraw-Hill Book Company. Accessed 1/25/2017. Available at www.ommbid.com

2. Chamoles NA, Blanco M, Gaggioli D, Casentini C: Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem 2001;47:2098-2102

3. Martins AM, Dualibi AP, Norato D, et al: Guidelines for the management of mucopolysaccharidosis type I. J Pediatr 2009 Oct:155(4 Suppl):S32-S46

4. Enns GM, Steiner RD, Cowan TM: Lysosomal disorders: mucopolysaccharidoses. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth. McGraw-Hill, Medical Publishing Division, 2009, pp 721-730

5. Clarke LA. Mucopolysaccharidosis Type I. In GeneReviews Edited by RA Pagon, MP Adam, HH Ardinger et al. University of Washington, Seattle. Updated 2016 Feb 11. Available at www.ncbi.nlm.nih.gov/books/NBK1162/

Analytic Time

8 days

Method Name

Fluorometric Enzyme Assay

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

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

Testing Algorithm

See Newborn Screen Follow-up for Mucopolysaccharidosis Type I in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical