SPHINGOLIPIDOSIS PANEL 2 Test
Test Cost: AED 950.0
Introduction
The SPHINGOLIPIDOSIS PANEL 2 test is a diagnostic test offered by DNA Labs UAE. It is used to detect various types of sphingolipidoses, which are inherited metabolic disorders characterized by the accumulation of sphingolipids in cells and tissues.
Test Components
- Gaucher Disease
- Niemann Pick Disease
Test Details
The SPHINGOLIPIDOSIS PANEL 2 test measures the activity of specific enzymes in leukocytes or fibroblasts. It helps diagnose and differentiate sphingolipidoses, including Gaucher disease, Niemann-Pick disease types A and B, Niemann-Pick disease type C, Fabry disease, and Krabbe disease.
1. Gaucher Disease
Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase, resulting in the accumulation of glucocerebroside. It is characterized by hepatosplenomegaly, bone abnormalities, and neurological symptoms.
2. Niemann-Pick Disease Types A and B
Niemann-Pick disease types A and B are caused by a deficiency of the enzyme acid sphingomyelinase, leading to the accumulation of sphingomyelin. Symptoms include hepatosplenomegaly, respiratory difficulties, and neurologic deterioration.
3. Niemann-Pick Disease Type C
Niemann-Pick disease type C is caused by mutations in the NPC1 or NPC2 genes, resulting in impaired intracellular lipid trafficking. It is characterized by hepatosplenomegaly, progressive neurological deterioration, and lung involvement.
4. Fabry Disease
Fabry disease is caused by a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of globotriaosylceramide. Symptoms include neuropathic pain, skin lesions, and kidney dysfunction.
5. Krabbe Disease
Krabbe disease is caused by a deficiency of the enzyme galactocerebrosidase, resulting in the accumulation of galactocerebroside. It is characterized by progressive neurological deterioration, optic atrophy, and peripheral neuropathy.
Test Cost and Sample Condition
The SPHINGOLIPIDOSIS PANEL 2 test costs AED 950.0. The sample condition requires 10 mL (7.5 mL min.) of whole blood from 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes. The sample must be shipped refrigerated within 48 hours and should not be frozen. A brief clinical history must accompany the sample.
Report Delivery
The sample is reported daily by 4pm, and the report is available within 4 days.
Method
The SPHINGOLIPIDOSIS PANEL 2 test is performed using an enzyme assay method.
Pre Test Information
It is important to provide a brief clinical history before undergoing the test.
Test Department
The SPHINGOLIPIDOSIS PANEL 2 test is conducted in the Genetic department of DNA Labs UAE.
Doctor
The test is recommended by a pediatrician.
Conclusion
The SPHINGOLIPIDOSIS PANEL 2 test offered by DNA Labs UAE is a valuable diagnostic tool for detecting and differentiating various types of sphingolipidoses. It helps in the diagnosis and management of these inherited metabolic disorders. If you suspect a sphingolipidosis based on clinical symptoms and other laboratory findings, contact our pediatrician for more information and to schedule the test.
| Test Name | SPHINGOLIPIDOSIS PANEL 2 Test |
|---|---|
| Components | *GaucherDisease*NiemannPickDisease |
| Price | 950.0 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 2 test is a diagnostic test used to detect various types of sphingolipidoses, which are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids in cells and tissues. This panel includes the analysis of enzyme activities for the following disorders: 1. Gaucher disease: This is caused by a deficiency of the enzyme glucocerebrosidase, resulting in the accumulation of glucocerebroside. It is characterized by hepatosplenomegaly, bone abnormalities, and neurological symptoms. 2. Niemann-Pick disease types A and B: These are caused by a deficiency of the enzyme acid sphingomyelinase, leading to the accumulation of sphingomyelin. Symptoms include hepatosplenomegaly, respiratory difficulties, and neurologic deterioration. 3. Niemann-Pick disease type C: This is caused by mutations in the NPC1 or NPC2 genes, resulting in impaired intracellular lipid trafficking. It is characterized by hepatosplenomegaly, progressive neurological deterioration, and lung involvement. 4. Fabry disease: This is caused by a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of globotriaosylceramide. Symptoms include neuropathic pain, skin lesions, and kidney dysfunction. 5. Krabbe disease: This is caused by a deficiency of the enzyme galactocerebrosidase, resulting in the accumulation of galactocerebroside. It is characterized by progressive neurological deterioration, optic atrophy, and peripheral neuropathy. The Sphingolipidosis Panel 2 test measures the activity of the respective enzymes in leukocytes or fibroblasts, allowing for the diagnosis and differentiation of these sphingolipidoses. It is typically performed when there is a suspicion of a sphingolipidosis based on clinical symptoms and other laboratory findings. The results of this test can help guide further diagnostic and management decisions. |
