Lysosomal Storage Disorder Gene Panel Test
Cost: AED 7200.0
Symptoms, Diagnosis, and Test Details
The Lysosomal Storage Disorder Gene Panel Test is a genetic test that analyzes a group of genes associated with lysosomal storage disorders (LSDs). LSDs are inherited metabolic disorders that affect the function of lysosomes, which are cellular organelles responsible for breaking down and recycling various substances in the body.
Common disorders analyzed in this panel include Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick disease, and mucopolysaccharidoses (MPS). These disorders can cause a range of symptoms, including developmental delays, skeletal abnormalities, vision and hearing loss, seizures, and organ dysfunction.
The test can be done with a doctor’s prescription and is typically performed on a sample of amniotic fluid, chorionic villi, or peripheral blood. The sample is collected in a sterile container or a sterile normal saline container or an EDTA vacutainer (3 ml).
The Lysosomal Storage Disorder Gene Panel Test is conducted using next-generation sequencing (NGS) technology to analyze the genes included in the panel. The results of the test can help diagnose an LSD and provide information about the specific genetic mutation responsible for the disorder.
Price: AED 7200.0
Sample Condition: Amniotic fluid / Chorionic villi / Peripheral blood
Report Delivery: 4-6 weeks
Method: NGS
Test Type: Genetics
Doctor: General Physician
Test Department:
Pre Test Information: The Lysosomal Storage Disorder Gene Panel Test requires a doctor’s prescription. However, it is not applicable for surgery and pregnancy cases or individuals planning to travel abroad.
The Lysosomal Storage Disorder Gene Panel Test is a valuable tool for diagnosing LSDs and providing information for treatment decisions and genetic counseling. If you suspect you or your child may have an LSD, consult with a general physician to discuss the possibility of undergoing this genetic test.
Test Name | Lysosomal Storage Disorder Gene Panel Test |
---|---|
Components | Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer(3 ml) |
Price | 7200.0 AED |
Sample Condition | Amniotic fluid\/ Chorionic villi\/ Peripheral blood |
Report Delivery | 4-6 weeks |
Method | NGS |
Test type | Genetics |
Doctor | General Physician |
Test Department: | |
Pre Test Information | Lysosomal Storage Disorder Gene Panel can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
The Lysosomal Storage Disorder Gene Panel is a genetic test that analyzes a group of genes that are associated with lysosomal storage disorders (LSDs). LSDs are a group of inherited metabolic disorders that affect the function of lysosomes, which are cellular organelles that break down and recycle various substances in the body. The Lysosomal Storage Disorder Gene Panel typically includes analysis of genes associated with disorders such as Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick disease, and mucopolysaccharidoses (MPS). These disorders can cause a wide range of symptoms, including developmental delays, skeletal abnormalities, vision and hearing loss, seizures, and organ dysfunction. The genetic test is typically performed on a blood or saliva sample and uses next-generation sequencing technology to analyze the genes included in the panel. The results of the test can help diagnose an LSD and provide information about the specific genetic mutation responsible for the disorder. This information can be used to guide treatment decisions and provide information about the risk of passing the disorder on to future generations. |