Short Description

NGS genetic DNA test detecets for variant and mutation detection in TTPA gene for Vitamin E familial deficiency

PreTest Information

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

Detail Description

TTPA Gene Vitamin E Familial Deficiency NGS Genetic DNA Test - Symptoms, Diagnosis, and Cost in India

DNA Labs India offers a comprehensive NGS Genetic DNA Test for TTPA gene Vitamin E Familial Deficiency. This test helps in detecting the presence of mutations in the TTPA gene, which can lead to a deficiency in Vitamin E. This deficiency can cause various health problems, including neurological and muscular disorders.

Symptoms of TTPA Gene Vitamin E Familial Deficiency

The symptoms of TTPA Gene Vitamin E Familial Deficiency can vary from person to person. Some common symptoms include:

• Muscle weakness and wasting
• Difficulty in coordinating movements
• Loss of sensation in the arms and legs
• Difficulty in speaking and swallowing
• Visual impairment
• Intellectual disability

These symptoms can start appearing in childhood or adolescence and can worsen over time if left untreated.

Diagnosis of TTPA Gene Vitamin E Familial Deficiency

The diagnosis of TTPA Gene Vitamin E Familial Deficiency involves a combination of clinical examination, genetic testing, and imaging studies. The genetic testing involves analyzing the DNA of the patient for mutations in the TTPA gene. This can be done through a blood sample or a saliva sample.

Imaging studies like MRI or CT scans can be done to evaluate the extent of damage to the nervous system. A neurological examination can also be done to assess the patient's symptoms and the severity of the condition.

NGS Genetic DNA Test Cost in India

The cost of the NGS Genetic DNA Test for TTPA Gene Vitamin E Familial Deficiency in India is INR 20,000. This test is performed using the latest Next Generation Sequencing (NGS) technology and provides accurate results in a short span of time.

It is important to note that this test is not covered under most health insurance plans in India. Patients may have to bear the cost of the test themselves.

Conclusion

TTPA Gene Vitamin E Familial Deficiency is a rare genetic disorder that can cause severe health problems if left untreated. The NGS Genetic DNA Test offered by DNA Labs India can help in the early diagnosis of this condition, enabling prompt treatment and management of symptoms.

If you suspect that you or someone in your family may have this condition, it is important to consult a healthcare professional and get tested as soon as possible.

For more information about the NGS Genetic DNA Test for TTPA Gene Vitamin E Familial Deficiency, visit the DNA Labs India website or contact their customer support team.

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 TTPA Gene Vitamin E familial deficiency NGS Genetic DNA Test