Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTRR gene for Spina bifida folate sensitive

PreTest Information

Clinical History of Patient who is going for MTRR Gene Spina bifida folate sensitive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MTRR Gene Spina bifida folate sensitive NGS Genetic DNA Test gene MTRR

Detail Description

MTRR Gene Spina Bifida Folate Sensitive NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Spina bifida is a neural tube defect that affects the spinal cord and brain. It is a condition that occurs when the neural tube, which is a structure that forms during the early stages of development in the womb, fails to close completely. This results in an opening in the spinal cord or brain, which can cause a range of symptoms, including paralysis, bladder and bowel problems, and learning difficulties.

The MTRR gene is one of the genes that has been implicated in spina bifida. This gene is involved in the metabolism of folate, which is a B vitamin that is essential for the development of the neural tube. Mutations in the MTRR gene can lead to a reduced ability to process folate, which in turn can increase the risk of spina bifida.

NGS genetic DNA testing is a powerful tool that can be used to identify mutations in the MTRR gene. This test is a type of genetic sequencing that can be used to analyze the entire genome or specific genes of interest. By analyzing the DNA sequence of the MTRR gene, NGS testing can identify mutations that may be associated with an increased risk of spina bifida.

Symptoms of Spina Bifida

The symptoms of spina bifida can vary depending on the severity of the condition. Mild cases may not cause any symptoms, while more severe cases can result in paralysis and other complications. Some common symptoms of spina bifida include:

• Difficulty walking or standing
• Bowel and bladder problems
• Numbness or tingling in the legs
• Weakness in the legs
• Learning difficulties
• Hydrocephalus (fluid buildup in the brain)

Diagnosis of Spina Bifida

Spina bifida is typically diagnosed during pregnancy through a prenatal ultrasound. In some cases, the condition may not be detected until after birth. If spina bifida is suspected, additional tests may be performed, including:

• MRI or CT scan
• X-rays
• Blood tests

Cost of NGS Genetic DNA Testing for MTRR Gene Spina Bifida

The cost of NGS genetic DNA testing for the MTRR gene and spina bifida can vary depending on the laboratory and location. In India, the cost of this test is typically around INR 20,000. However, prices can vary depending on the specific laboratory and the complexity of the test.

Conclusion

Spina bifida is a serious condition that can cause a range of symptoms and complications. The MTRR gene has been implicated in spina bifida, and NGS genetic DNA testing can be used to identify mutations in this gene that may increase the risk of the condition. While the cost of this test can vary, it is an important tool for early diagnosis and treatment of spina bifida.

If you are concerned about spina bifida or the MTRR gene, it is important to speak with a healthcare provider or genetic counselor to determine if NGS genetic DNA testing is right for you. With early diagnosis and treatment, individuals with spina bifida can lead full and productive lives.

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 MTRR Gene Spina bifida folate sensitive NGS Genetic DNA Test