SPHINGOLIPIDOSIS PANEL 3 Test
The Sphingolipidosis Panel 3 test is a diagnostic test used to identify and confirm the presence of certain sphingolipid storage disorders, also known as sphingolipidoses. These disorders are characterized by the abnormal accumulation of sphingolipids in various tissues and organs.
The panel includes the analysis of specific enzymes involved in the breakdown of sphingolipids, such as hexosaminidase A and B, arylsulfatase A, and galactocerebrosidase. Deficiencies in these enzymes can indicate the presence of specific sphingolipidoses, such as Tay-Sachs disease, Sandhoff disease, metachromatic leukodystrophy, and Krabbe disease.
The test is typically performed on a blood or tissue sample, and the levels of these enzymes are measured. Abnormally low enzyme activity levels can suggest the presence of a specific sphingolipid storage disorder. Additional tests, such as genetic testing or further enzyme analysis, may be required to confirm the diagnosis.
The Sphingolipidosis Panel 3 test is useful in the early detection and diagnosis of sphingolipidoses, allowing for timely treatment and management of these rare genetic disorders. It can also be used for carrier testing and genetic counseling for individuals with a family history of sphingolipid storage disorders.
Test Details
- Test Name: SPHINGOLIPIDOSIS PANEL 3 Test
- Components: GM 1 Gangliosidosis, Gaucher Disease, Niemann Pick Disease
- Price: 1170.0 AED
- Sample Condition: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes. Ship refrigerated within 48 hrs. DO NOT FREEZE. Clinical history must accompany sample.
- Report Delivery: Sample daily by 4pm; Report 4 days
- Method: Enzyme assay
- Test Type: Inborn errors of metabolism
- Doctor: Pediatrician
- Test Department: Genetic
- Pre Test Information: Give brief clinical history.
For more information or to schedule a SPHINGOLIPIDOSIS PANEL 3 test, please contact DNA Labs UAE.
Test Name | SPHINGOLIPIDOSIS PANEL 3 Test |
---|---|
Components | *GM 1 Gangliosidosis*GaucherDisease *Niemann Pick Disease |
Price | 1170.0 AED |
Sample Condition | 10 mL (7.5 mL min.) whole blood from 3LavenderTop(EDTA)\/GreenTop (SodiumHeparin)tubes.Ship refrigeratedwithin48hrs.DONOT FREEZE. Clinical history must accompanysample. |
Report Delivery | SampleDailyby4pm;Report4days |
Method | Enzyme assay |
Test type | Inborn errors of metabolism |
Doctor | Pediatrician |
Test Department: | GENETIC |
Pre Test Information | Give brief clinical history. |
Test Details |
The Sphingolipidosis Panel 3 test is a diagnostic test used to identify and confirm the presence of certain sphingolipid storage disorders, also known as sphingolipidoses. These disorders are characterized by the abnormal accumulation of sphingolipids in various tissues and organs. The panel includes the analysis of specific enzymes involved in the breakdown of sphingolipids, such as hexosaminidase A and B, arylsulfatase A, and galactocerebrosidase. Deficiencies in these enzymes can indicate the presence of specific sphingolipidoses, such as Tay-Sachs disease, Sandhoff disease, metachromatic leukodystrophy, and Krabbe disease. The test is typically performed on a blood or tissue sample, and the levels of these enzymes are measured. Abnormally low enzyme activity levels can suggest the presence of a specific sphingolipid storage disorder. Additional tests, such as genetic testing or further enzyme analysis, may be required to confirm the diagnosis. The Sphingolipidosis Panel 3 test is useful in the early detection and diagnosis of sphingolipidoses, allowing for timely treatment and management of these rare genetic disorders. It can also be used for carrier testing and genetic counseling for individuals with a family history of sphingolipid storage disorders. |