Sphingolipidosis Panel 1 Test Cost & Procedure

Sphingolipidoses are a type of lipid storage disease (LSD) linked to sphingolipid metabolism. They are commonly inherited in an autosomal recessive manner, but the Fabry disorder is X-linked recessive. Brought together, sphingolipidoses include an incidence of about 1 in 10.000, but substantially more in specific populations. Most typically it is noticed in pediatric individuals below the generation of 18 years.

Sphingolipidoses are human metabolic depository diseases depicted by the collection of unhealthy portions of glycosphingolipids and phosphosphingolipids or degenerative storage diseases induced by a not sufficient amount of enzyme that is needed for the breakdown of lipids that include ceramide, also connected to sphingolipid metabolism. Sphingolipids are augmented in the Central Nervous System (CNS) and exhibit multiple biological operations. They participate in tissue expansion, cell recognition, and bonding, and work as receptors for toxins.

Indication of patients:

Patient’s complaints of spleen-hepatomegaly of more than 6 months duration and screened for the presence of chronic hemolysis and portal hypertension.

Why the examination is performed:

This examination is applicable for individuals existing with neurodegeneration, developmental pause, intellectual disability, visceromegaly, metabolic dysfunction, development impairment, and/or multi-system involvement indicating storage or non-specific storage-like disease. This examination may be particularly beneficial for individuals with inconclusive enzyme estimation or single gene sequencing analysis, or patients whose phenotype does not match a particular storage disease. If a single lysosomal storage disease is presumed, enzyme analysis or individual gene sequencing should be evaluated before this examination.

Examination Components:

Metachromatic Leukodystrophy, GM 1 Gangliosidosis, GM 2 Gangliosidosis, Gaucher Disorder, and Niemann Pick Disorder are the precise examination elements.

Gaucher disorder is the most familiar LSD other than Niemann Pick disorder. Gaucher's disorder (most familiar class 1 i.e. Non-Neuropathic) reports for 99% of cases and was verified on glucocerebrosidase action

Taking the sphingolipidoses panel 1 test:

A blood specimen is needed for this examination. The specimen is generally seized from a vein while you are in the clinic or emergency room. 10 mL (7.5 mL min.) whole blood from 3 Lavender cap (EDTA) / Green cap (Sodium Heparin) tubes will be accepted. The vessel is refrigerated within 48 hrs but the specimen will not be frozen. Your physician will inform you how to accomplish this. Obey instructions exactly.

Normal range:

Beta Galactosidase results in>80 nmol/hr/mg; Beta Glucocerebrosidase results in >4 nmol/hr/mg; Sphingomyelinase results in >3 nmol/hr/mg.