Oligosaccharidoses Enzyme Panel

Disease names Alpha-mannosidosis
Aspartylglucosaminuria
Beta-mannosidosis
Fucosidosis
GM1 gangliosidosis
Schindler
(Sialidase only if fibroblasts are submitted)
Enzyme Names Alpha-mannosidase
Aspartylglucosaminidase
Beta-mannosidase
Alpha-fucosidase
β-galactosidase
N-acetyl alpha galactosaminidase
*Sialidase (only if fibroblasts are submitted)
Clinical info Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses.  A lysosomal storage disease can present in a number of different ways.  Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults.  While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.
Indications

Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing.  Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders. 

Prenatal diagnosis and carrier testing via enzyme analysis are NOT available.

Methodology

Assays for lysosomal enzymes will employ an artificial 4-methylumbelliferyl substrate and activity is measured using a fluorometer. These are quantitated assays and the units will vary among each enzyme.

Associated Tests Each of these enzymes can also be ordered on an individual basis. 
Specimen Requirements

Enzyme activity can be measured in leukocytes, cultured fibroblasts, or dried blood spots. For leukocytes, please send 5-10 ml of whole blood in a green top (sodium heparin) tube. For dried blood spot collection, a minimum of three circles needs to be filled in. Each circle should contain one drop of blood (about 100 microliters). See the link below for additional sample collection and handling instructions.

Dried Blood Spot Sample Collection and Requirements

For fibroblasts, fresh or cultured tissue can be accepted. If cultured fibroblasts are sent, please send two T25 flasks and a control flask. No prenatal samples (amniotic fluid or CVS) will be accepted for this panel.
Transport

Enzyme samples must arrive within 24 hours of collection and should be shipped overnight at room temperature.

Fresh or cultured tissue can be sent by courier or overnight delivery at room temperature. 

For a dried blood spot: When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.

Turnaround time 14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657 for single enzyme
82657(x3) for panel
Cost $200 for single enzyme
$600 for panel
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

 

Alpha-mannosidase

Aspartylglucosaminidase
Beta-mannosidase
Alpha-fucosidase

β-galactosidase
N-acetyl alpha galactosaminidase
*Sialidase (only if fibroblasts are submitted)