SPHINGOLIPIDOSIS PANEL 1 Test
Test cost: AED 2040.0
Symptoms diagnosis: Metachromatic Leucodystrophy, GM 1 Gangliosidosis, GM 2 Gangliosidosis, Gaucher Disease, Niemann-Pick Disease
Test Components:
- Metachromatic Leucodystrophy
- GM 1 Gangliosidosis
- GM 2 Gangliosidosis
- Gaucher Disease
- Niemann-Pick Disease
Price: 2040.0 AED
Sample Condition: 10 mL (7.5 mL min.) whole blood from 3 Lavender Top (EDTA) / Green Top (Sodium Heparin) tubes. Ship refrigerated within 48hrs. DO NOT FREEZE. Clinical history must accompany sample.
Report Delivery: Sample daily by 4pm; Report within 4 days
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 1 Test is a diagnostic test used to detect and diagnose various types of sphingolipidoses, which are a group of inherited metabolic disorders. These disorders are characterized by the accumulation of sphingolipids in various tissues and organs of the body.
The test panel includes the analysis of specific enzymes involved in the metabolism of sphingolipids, such as glucocerebrosidase, alpha-galactosidase A, beta-glucocerebrosidase, and acid sphingomyelinase. Deficiencies or abnormalities in these enzymes can indicate the presence of specific sphingolipidoses, such as Gaucher disease, Fabry disease, Niemann-Pick disease, and Tay-Sachs disease.
The Sphingolipidosis Panel 1 Test is typically performed on a blood or tissue sample. The sample is analyzed in a laboratory using various biochemical and genetic techniques to measure the activity and levels of the specific enzymes.
The results of the test can help healthcare providers confirm a diagnosis, determine the severity of the condition, and guide treatment decisions. It is important to note that the Sphingolipidosis Panel 1 Test is a screening tool and may not provide a definitive diagnosis. Further confirmatory testing, such as genetic testing or additional enzyme analysis, may be necessary to confirm the specific type of sphingolipidosis.
Overall, the Sphingolipidosis Panel 1 Test is a valuable tool in the diagnosis and management of sphingolipidoses, allowing for early detection and intervention to improve patient outcomes.
Test Name | SPHINGOLIPIDOSIS PANEL 1 Test |
---|---|
Components | *MetachromaticLeucodystrophy*GM 1 Gangliosidosis*GM 2 Gangliosidosis*Gaucher Disease*NiemannPickDisease |
Price | 2040.0 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 1 Test is a diagnostic test used to detect and diagnose various types of sphingolipidoses, which are a group of inherited metabolic disorders. These disorders are characterized by the accumulation of sphingolipids in various tissues and organs of the body. The test panel includes the analysis of specific enzymes involved in the metabolism of sphingolipids, such as glucocerebrosidase, alpha-galactosidase A, beta-glucocerebrosidase, and acid sphingomyelinase. Deficiencies or abnormalities in these enzymes can indicate the presence of specific sphingolipidoses, such as Gaucher disease, Fabry disease, Niemann-Pick disease, and Tay-Sachs disease. The Sphingolipidosis Panel 1 Test is typically performed on a blood or tissue sample. The sample is analyzed in a laboratory using various biochemical and genetic techniques to measure the activity and levels of the specific enzymes. The results of the test can help healthcare providers confirm a diagnosis, determine the severity of the condition, and guide treatment decisions. It is important to note that the Sphingolipidosis Panel 1 Test is a screening tool and may not provide a definitive diagnosis. Further confirmatory testing, such as genetic testing or additional enzyme analysis, may be necessary to confirm the specific type of sphingolipidosis. Overall, the Sphingolipidosis Panel 1 Test is a valuable tool in the diagnosis and management of sphingolipidoses, allowing for early detection and intervention to improve patient outcomes. |