Short Description

NGS genetic DNA test detecets for variant and mutation detection in PSAP gene for Krabbe disease, atypical

PreTest Information

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

Detail Description

PSAP Gene Krabbe Disease: Symptoms, Diagnosis and Atypical NGS Genetic DNA Test Cost

PSAP Gene Krabbe Disease is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PSAP gene, which provides instructions for making a protein called prosaposin. This protein is essential for the normal functioning of the nervous system. When the PSAP gene is mutated, prosaposin is not produced properly, leading to the accumulation of toxic substances in the nervous system.

Symptoms of PSAP Gene Krabbe Disease

The symptoms of PSAP Gene Krabbe Disease can vary widely depending on the age of onset and the severity of the disease. In infants, symptoms may include:

• Weakness
• Irritability
• Feeding difficulties
• Seizures

In children and adults, symptoms may include:

• Loss of muscle control
• Vision loss
• Hearing loss
• Mental retardation

Diagnosis of PSAP Gene Krabbe Disease

PSAP Gene Krabbe Disease can be diagnosed through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the PSAP gene. In some cases, a diagnosis may also be made through a physical exam, blood tests, and imaging studies.

Atypical NGS Genetic DNA Test Cost

The cost of an atypical NGS Genetic DNA test for PSAP Gene Krabbe Disease is approximately INR 20,000. This test uses next-generation sequencing technology to analyze the patient's DNA and detect mutations in the PSAP gene. The test can be performed on a blood sample or a cheek swab and typically takes 2-4 weeks for results to be available.

Conclusion

PSAP Gene Krabbe Disease is a rare genetic disorder that can cause a wide range of symptoms. Diagnosis is typically made through genetic testing, and an atypical NGS Genetic DNA test can cost approximately INR 20,000. If you or a loved one is experiencing symptoms of PSAP Gene Krabbe Disease, it is important to seek medical attention and genetic counseling as soon as possible.

At DNA Labs India, we offer a range of genetic testing services, including atypical NGS Genetic DNA testing for PSAP Gene Krabbe Disease. Contact us today to learn more.

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 Krabbe disease, atypical NGS Genetic DNA Test