Sialidosis (NEU1) Sequencing

Disorder Sialidosis
Mucolipidosis, type I (ML I)
Gene Name NEU1
Clinical info 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.

Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests Urine oligosaccharides are available in the Biochemical Diagnostic Lab and may be useful in screening for this disorder. Enzyme testing for α-neuraminidase sialidase activity is also available and can be used to help establish the diagnosis.
Detection Unknown
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 21 days
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes

Unknown mutation: 81479

Known mutation: 81403

Deletion/Duplication analysis: 81479

Cost $800 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

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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