Dried Blood Spot Lysosomal Enzyme Panel

Disease names

Fabry disease
Gaucher disease
GM1 gangliosidosis/Morquio type B, MPS IVB
Hunter syndrome, MPS II
Hurler syndrome, MPS I
Krabbe disease
Niemann-Pick A/B
Pompe disease
Sanfilippo syndrome type B, MPS IIIB
Schindler/Kanzaki disease

Enzyme Names

Acid sphingomyelinase

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 These enzyme tests can also be ordered on an individual basis. 
Specimen Requirements

To ensure sufficient quantity for testing, please fill five circles on the card if possible. Cards are available upon request, and each circle should contain one drop of blood (about 100 microliters).  See the link below for additional sample collection and handling instructions.

Sample Collection and Requirements

DBS Collection Instruction Video

Transport When 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 21 days
CPT Codes

82657 for single enzyme

82657(x4) for panel

Cost $200 for single enzyme

$800 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.

Biochemical Lab

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

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