Sialidosis : NEU1 Sequencing

Test Information

NEU1 sequencing is a molecular test used to identify variants in the gene associated with Sialidosis .

Turnaround Time

3 weeks

CPT Code(s)

81479

Cost

$800

Genes

Clinical Information

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.

Methodology

Sanger Sequencing

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. 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.

Prenatal Testing Information

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.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Sanger Sequencing
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

In The News