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Sphingo Enzyme Panel NGS Genetic Test

4,400 د.إ

-27%

The Sphingo Enzyme Panel NGS Genetic Test, available at DNA Labs UAE for a cost of 4400 AED, is a cutting-edge diagnostic tool designed to identify genetic mutations associated with sphingolipid metabolism disorders. This comprehensive panel leverages Next Generation Sequencing (NGS) technology to analyze genes implicated in the synthesis, degradation, and regulation of sphingolipids, a class of lipids essential to cellular structure and signaling. By detecting genetic variations that may lead to metabolic imbalances, the test provides valuable insights for the diagnosis, management, and treatment planning of related disorders. Conducted in the advanced facilities of DNA Labs UAE, this test represents a significant step forward in the field of genetic diagnostics, offering patients and healthcare providers a precise and reliable tool for understanding complex metabolic conditions.

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Sphingo Enzyme Panel NGS Genetic Test

Cost: AED 4400.0

Symptoms, Diagnosis, and Test Details

The Sphingo Enzyme Panel NGS Genetic DNA Test is a diagnostic test offered by DNA Labs UAE. This test uses Next-Generation Sequencing (NGS) technology to analyze a person’s DNA for mutations in genes that encode for sphingolipid enzymes. Sphingolipids are important lipids that play crucial roles in cell membrane structure, signaling, and metabolism.

By detecting mutations in genes related to sphingolipid enzymes, this test can identify various sphingolipid storage disorders, including Niemann-Pick disease, Gaucher disease, Fabry disease, and Tay-Sachs disease. These disorders occur due to a deficiency in sphingolipid enzymes, leading to the accumulation of sphingolipids in different tissues and organs, resulting in a wide range of symptoms and health issues.

Who Should Consider This Test?

The Sphingo Enzyme Panel NGS Genetic DNA Test is typically recommended for individuals who exhibit symptoms or have a family history of sphingolipid storage disorders. It can help confirm a diagnosis, determine the specific type of sphingolipid storage disorder, and guide treatment decisions. Additionally, it can be used for carrier testing and prenatal diagnosis in families with a known history of these disorders.

Test Components and Price

The Sphingo Enzyme Panel NGS Genetic DNA Test is available at DNA Labs UAE for a cost of AED 4400.0. The test can be performed using blood samples, extracted DNA, or even a single drop of blood on an FTA Card.

Report Delivery and Test Method

After the test is conducted, the report is typically delivered within 3 to 4 weeks. The test utilizes NGS technology, which is a highly advanced sequencing method that allows for efficient and accurate analysis of DNA.

Pre-Test Information

Prior to undergoing the Sphingo Enzyme Panel NGS Genetic DNA Test, it is important to provide the clinical history of the patient. This information helps in understanding the patient’s condition and may involve a genetic counseling session to create a pedigree chart of family members affected by sphingolipid storage disorders.

Test Department and Doctor

The Sphingo Enzyme Panel NGS Genetic DNA Test is conducted in the Genetics department of DNA Labs UAE. It is recommended to consult with a General Physician or a specialist in Metabolic Disorders for further guidance and interpretation of the test results.

Overall, the Sphingo Enzyme Panel NGS Genetic DNA Test is a valuable tool in diagnosing and managing sphingolipid storage disorders. It offers crucial insights into an individual’s genetic makeup and helps healthcare professionals make informed decisions regarding treatment and care.

 

Test NameSphingo 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 Sphingo Enzyme Panel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Sphingo Enzyme Panel
Test Details

The Sphingo Enzyme Panel NGS Genetic DNA Test is a diagnostic test that uses Next-Generation Sequencing (NGS) technology to analyze a person’s DNA for mutations in genes that encode for sphingolipid enzymes. Sphingolipids are a class of lipids that play important roles in cell membrane structure, signaling, and metabolism.

The Sphingo Enzyme Panel NGS Genetic DNA Test can detect mutations in genes that encode for sphingolipid enzymes, which can lead to various sphingolipid storage disorders, including Niemann-Pick disease, Gaucher disease, Fabry disease, and Tay-Sachs disease. These disorders are caused by a deficiency in one of the sphingolipid enzymes, which leads to the accumulation of sphingolipids in various tissues and organs, causing a range of symptoms and health problems.

The Sphingo Enzyme Panel NGS Genetic DNA Test is typically performed on individuals who have symptoms or a family history of sphingolipid storage disorders. The test can help to confirm a diagnosis, identify the specific type of sphingolipid storage disorder, and inform treatment decisions. It can also be used for carrier testing and prenatal diagnosis in families with a known history of these disorders.