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Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test

4,400 د.إ

-27%

The Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test, available at DNA Labs UAE for a cost of 4400 AED, is a sophisticated diagnostic tool designed to identify genetic mutations associated with lysosomal storage disorders (LSDs). LSDs are a group of rare, inherited metabolic conditions that result from defects in lysosomal function, leading to the accumulation of undigested or partially digested macromolecules in cells. This accumulation can cause a wide range of symptoms, depending on the specific disorder and the tissues affected.

This genetic test utilizes Next-Generation Sequencing (NGS) technology, a powerful method that allows for the rapid and accurate sequencing of large segments of DNA. By analyzing the genetic material, the test can detect mutations in genes known to be linked with various LSDs, including but not limited to Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidoses.

The comprehensive nature of the NGS panel makes it a valuable tool for clinicians in diagnosing these complex disorders, enabling early and accurate diagnosis. Early diagnosis is crucial for managing symptoms, improving quality of life, and, in some cases, initiating enzyme replacement therapy or other treatments that can significantly alter the course of the disease.

The test is performed in DNA Labs UAE, a facility equipped with state-of-the-art technology and staffed by professionals specialized in genetic testing and analysis. The cost of the test is set at 4400 AED, reflecting the advanced technology and expertise required to conduct such detailed genetic analysis.

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Lysosomal Storage Disorders Enzyme Panel NGS Genetic Test: Cost, Symptoms, Diagnosis

Are you concerned about lysosomal storage disorders? The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test offered by DNA Labs UAE can provide you with valuable insights. In this blog, we will discuss the test’s cost, symptoms, and diagnosis process.

Test Name: Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test

Components

The test is priced at 4400.0 AED.

Sample Condition

The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The test results will be delivered within 3 to 4 weeks.

Method

The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test utilizes NGS technology.

Test Type

The test focuses on detecting metabolic disorders.

Doctor

The test can be requested by a general physician.

Test Department

The test falls under the Genetics department.

Pre Test Information

Prior to undergoing the Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test, it is recommended to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by Lysosomal Storage Disorders Enzyme Panel.

Test Details

The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is a diagnostic test designed to identify genetic mutations responsible for lysosomal storage disorders. These disorders occur due to a deficiency in enzymes responsible for breaking down and recycling cellular waste products.

The test employs next-generation sequencing (NGS) technology to analyze the patient’s DNA. The DNA is extracted from a blood sample or other tissue sample and sequenced to identify any genetic mutations associated with lysosomal storage disorders.

The Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is capable of detecting mutations in genes associated with various lysosomal storage disorders, including Gaucher disease, Fabry disease, Niemann-Pick disease, and Pompe disease. Early diagnosis of these disorders can significantly improve patient outcomes, leading to earlier intervention and treatment.

Overall, the Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is an essential tool for diagnosing lysosomal storage disorders and ensuring that patients receive appropriate care and treatment.

 

Test NameLysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test
Components 
Price4400.0 AED
Sample ConditionBlood or Extracted DNA or One drop Blood on FTA Card
Report Delivery3 to 4 Weeks
MethodNGS Technology
Test typeMetabolic Disorders
DoctorGeneral Physician
Test Department:Genetics
Pre Test InformationClinical History of Patient who is going for Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Lysosomal Storage Disorders Enzyme Panel
Test Details

Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is a diagnostic test that helps to identify genetic mutations that cause lysosomal storage disorders. These disorders are caused by a deficiency in enzymes that are responsible for breaking down and recycling cellular waste products.

The test uses next-generation sequencing (NGS) technology to analyze the DNA of the patient. The DNA is extracted from a blood sample or other tissue sample, and then sequenced to identify any genetic mutations that may be causing the lysosomal storage disorder.

The test can detect mutations in genes associated with a variety of lysosomal storage disorders, including Gaucher disease, Fabry disease, Niemann-Pick disease, and Pompe disease. Early diagnosis of these disorders can help to improve outcomes for patients and may lead to earlier intervention and treatment.

Overall, the Lysosomal Storage Disorders Enzyme Panel NGS Genetic DNA Test is an important tool for diagnosing lysosomal storage disorders and helping patients to receive appropriate care and treatment.