Lysosomal Enzyme Panel

Disease names Alpha-mannosidosis
Aspartylglucosaminuria
Beta-mannosidosis
Fabry Disease
Fucosidosis
Gaucher Disease
GM1 gangliosidosis/Morqio B
Hurler syndrome, MPS I
Krabbe Disease
Metachromatic Leukodystrophy
Niemann-Pick A/B
Schindler/Kanzaki Disease
Tay – Sachs/Sandoff Disease
Enzyme Names

Alpha-mannosidase
Aspartylglucosaminidase
Beta-mannosidase
Alpha-galactosidase
Alpha-fucosidase
Beta-glucosidase
Beta-galactosidase
Alpha-iduronidase
Galactocerebrosidase
Arylsulfatase A
Acid sphingomyelinase
N-acetyl alpha galactosaminidase
Beta-hexosaminidase

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.

Associated Tests Each of these enzyme can also be ordered on an individual basis. 
Specimen Requirements Whole blood is required for this test.  7-10 ml of blood should be collected in a sodium heparin (green top) tube. 
Transport Enzyme samples must arrive within 24 hours of blood draw. Ship overnight at room temperature. Specimens should be sent at ambient temperature. Do not freeze or allow the sample to get above room temperature during shipment.
Turnaround time 14 days
Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657 for single enzyme
82657(x5) for panel
Cost $200 for single enzyme
$1000 for panel
Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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