Short Description

List of genes tested using NGS technology for detection of variant and mutation in Sphingo Enzyme Panel are Acidic sphingomyelinase (Niemann-Pick Type A and Type B, SMPD1), Beta-glucocerebrosidase and Chitotriosidase (Gaucher, GBA), Alpha-galactosidase (Fabry, GLA), Acidic alpha-glucosidase (Pompe, GAA), Beta-hexosaminidase (Tay-Sachs, HEXA), Hexosaminidase AB (Sandhoff, HEXA/HEXB), Alpha-N-acetylgalactosaminidase (Schindler/Kanzaki, NAGA), Acid lipase (Wolman, LIPA) , Alpha-mannosidase (Alpha-mannosidase deficiency, MAN2B1), Beta-mannosidase (Beta-mannosidase deficiency, MANBA), Alpha-fucosidase (Alpha-fucosidase deficiency, FUCA1)

PreTest Information

Clinical 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

Detail Description

Sphingo Enzyme Panel NGS Genetic DNA Test: A Revolutionary Diagnostic Tool

Are you experiencing unexplained symptoms and looking for a reliable diagnostic tool to find out the root cause of your health issues? Look no further than the Sphingo Enzyme Panel NGS Genetic DNA Test offered by DNA Labs India.

What is the Sphingo Enzyme Panel NGS Genetic DNA Test?

The Sphingo Enzyme Panel NGS Genetic DNA Test is a comprehensive genetic test that analyzes mutations in the genes responsible for producing sphingolipid enzymes. These enzymes are critical for various cellular functions, including maintaining the integrity of cell membranes, signaling, and regulating cell growth. Mutations in sphingolipid enzymes can lead to a wide range of health issues, including neurological disorders, metabolic diseases, and cancer.

How does the test work?

The Sphingo Enzyme Panel NGS Genetic DNA Test uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the genes responsible for producing sphingolipid enzymes. The test identifies any mutations in these genes and provides a detailed report of the findings.

What are the symptoms of sphingolipid enzyme mutations?

The symptoms of sphingolipid enzyme mutations can vary depending on the specific gene affected and the severity of the mutation. Some common symptoms include:

• Developmental delays
• Neurological disorders, such as seizures, ataxia, and cognitive impairment
• Metabolic disorders, such as Gaucher disease and Niemann-Pick disease
• Cancer

If you are experiencing any of these symptoms, it is essential to get tested to determine the underlying cause of your health issues.

How much does the test cost?

The Sphingo Enzyme Panel NGS Genetic DNA Test is available at DNA Labs India for INR 20,000. This cost includes the genetic test, sample collection, and a detailed report of the findings. The test is covered by most insurance plans, making it an affordable diagnostic tool for patients.

Why choose DNA Labs India for the Sphingo Enzyme Panel NGS Genetic DNA Test?

DNA Labs India is a leading provider of genetic testing services in India, offering a wide range of diagnostic tests to patients across the country. The Sphingo Enzyme Panel NGS Genetic DNA Test is one of the most advanced genetic tests available, and DNA Labs India has the expertise and experience to provide accurate and reliable results.

Conclusion

The Sphingo Enzyme Panel NGS Genetic DNA Test is a revolutionary diagnostic tool that can help identify the underlying cause of a wide range of health issues. If you are experiencing unexplained symptoms, it is essential to get tested to determine the root cause of your health issues. Contact DNA Labs India today to schedule your test and take the first step towards better health.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for Sphingo Enzyme Panel NGS Genetic DNA Test