Sialidosis – Enzyme Analysis

Disease name Sialidosis
Enzyme Name α-neuraminidase-sialidase
Indications Sialidosis, also known as mucolipidosis type I, is among the rarest lysosomal disorders classified as part of the glycoproteinoses. There are two clinically distinct subtypes of sialidosis.

The less severe form of the disorder, sialidosis type I, characterized by later onset, cherry red spots, progressive vision loss. These patients can also have other neurological symptoms such as ataxia and myoclonus, but typically have normal intelligence.

Type II is the more severe form of sialidosis. These patients usually have more physical findings than patients with type I, such as short stature, coarse features, thoracic kyphosis, and hepatosplenomegaly. Similar to the milder type I patients, individuals with type II may also have the cherry red spot, ataxia, and myoclonus. However, additional neurological symptoms are likely to be present in patients with type II.

Methodology Quantifies level of α-neuraminidase-sialidase via the 4-methylumbelliferyl substrate.
Associated Tests Molecular analysis of the gene for sialidosis (NEU1) is also available for identification of the causative mutation within a family, carrier status and prenatal diagnosis.
Specimen Requirements Fibroblasts are required for analysis. Fresh tissue or cultured 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 analysis.
Transport Fresh tissue for culture should be sent by courier or overnight delivery.
Turnaround time Turnaround time is approximately 4 weeks. Cell culture can take 1-4 weeks and may lengthen turnaround time.
CPT Codes 82657
Cost $200
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.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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