Test Name	PSAP Gene Prosaposin deficiency NGS Genetic DNA Test
Test type	General Physician
Pre-test Information	Clinical History of Patient who is going for PSAP Gene Prosaposin deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Prosaposin deficiency
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in PSAP gene for Prosaposin deficiency

PreTest Information

Clinical History of Patient who is going for PSAP Gene Prosaposin deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Prosaposin deficiency

Detail Description

PSAP Gene Prosaposin Deficiency NGS Genetic DNA Test Cost INR 20000

Introduction

Prosaposin (PSAP) deficiency is a rare genetic disorder that affects the nervous system. The PSAP gene provides instructions for making a protein called prosaposin, which is essential for the development and maintenance of the nervous system. When the PSAP gene is mutated or absent, it can cause a range of symptoms that vary in severity. NGS genetic DNA testing is a powerful tool for diagnosing genetic disorders like PSAP gene prosaposin deficiency. In this blog, we will discuss the symptoms, diagnosis, and cost of NGS genetic DNA testing for PSAP gene prosaposin deficiency in India.

Symptoms of PSAP Gene Prosaposin Deficiency

The symptoms of PSAP gene prosaposin deficiency can vary widely depending on the severity of the mutation and the age of onset. Some people with the disorder may have mild or no symptoms, while others may have severe neurological problems. Symptoms of PSAP gene prosaposin deficiency may include:

• Developmental delays
• Intellectual disability
• Seizures
• Ataxia (lack of muscle coordination)
• Hearing loss
• Blindness
• Peripheral neuropathy
• Organomegaly (enlarged organs)

Diagnosis of PSAP Gene Prosaposin Deficiency

Diagnosing PSAP gene prosaposin deficiency can be challenging because it is a rare disorder and the symptoms can be similar to other neurological conditions. However, genetic testing is the most reliable way to diagnose the disorder. NGS genetic DNA testing is a type of genetic testing that can analyze multiple genes at once. This makes it an effective tool for diagnosing complex genetic disorders like PSAP gene prosaposin deficiency. To perform NGS genetic DNA testing, a sample of blood or saliva is collected from the patient and sent to a laboratory for analysis. The test results can take several weeks to come back, but they can provide a definitive diagnosis of the disorder.

Cost of NGS Genetic DNA Testing for PSAP Gene Prosaposin Deficiency in India

The cost of NGS genetic DNA testing for PSAP gene prosaposin deficiency in India can vary depending on the laboratory and the specific test being performed. However, the average cost of the test is around INR 20000. It is important to note that genetic testing for PSAP gene prosaposin deficiency may not be covered by insurance. Patients should check with their insurance provider to determine if the test is covered and what their out-of-pocket costs may be.

Conclusion

PSAP gene prosaposin deficiency is a rare genetic disorder that can cause a range of neurological symptoms. NGS genetic DNA testing is a powerful tool for diagnosing the disorder and can provide a definitive diagnosis. The cost of NGS genetic DNA testing for PSAP gene prosaposin deficiency in India is around INR 20000. Patients should check with their insurance provider to determine if the test is covered and what their out-of-pocket costs may be.

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 PSAP Gene Prosaposin deficiency NGS Genetic DNA Test