Short Description

NGS genetic DNA test detecets for variant and mutation detection in USB1 gene for Poikiloderma with neutropenia

PreTest Information

Clinical History of Patient who is going for USB1 Gene Poikiloderma with neutropenia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with USB1 Gene Poikiloderma with neutropenia NGS Genetic DNA Test gene USB1

Detail Description

USB1 Gene Poikiloderma with Neutropenia NGS Genetic DNA Test Cost INR 20,000: Symptoms, Diagnosis, and More

USB1 Gene Poikiloderma with Neutropenia is a rare genetic disorder that affects the skin, immune system, and other parts of the body. This condition is caused by mutations in the USB1 gene, which provides instructions for making a protein that plays a role in DNA repair.

Individuals with USB1 Gene Poikiloderma with Neutropenia have skin that is sensitive to the sun and appears reddened, scaly, and blotchy. They also have a weakened immune system, which makes them more susceptible to infections. Other symptoms of this condition may include:

• Delayed growth and development
• Abnormalities in the teeth and nails
• Abnormalities in the bones and joints
• Intellectual disability

If you or your child is experiencing these symptoms, it is important to consult a healthcare professional for a proper diagnosis. A genetic test can confirm whether or not the USB1 gene is mutated.

What is an NGS Genetic DNA Test?

NGS stands for Next-Generation Sequencing, which is a technology used in genetic testing to analyze DNA. An NGS Genetic DNA Test can detect mutations in the USB1 gene that cause Poikiloderma with Neutropenia.

This test involves taking a small sample of blood or saliva from the patient and analyzing it in a laboratory. The results of the test can provide valuable information about the patient's genetic makeup and can help healthcare professionals make an accurate diagnosis.

What is the Cost of an NGS Genetic DNA Test for USB1 Gene Poikiloderma with Neutropenia?

The cost of an NGS Genetic DNA Test for USB1 Gene Poikiloderma with Neutropenia can vary depending on the laboratory and healthcare provider. In India, the cost of this test is typically around INR 20,000.

It is important to note that many insurance companies do not cover the cost of genetic testing, so it is important to check with your provider to see if this test is covered under your plan.

Why is an NGS Genetic DNA Test Important?

An NGS Genetic DNA Test is important because it can provide a definitive diagnosis for USB1 Gene Poikiloderma with Neutropenia. This can help healthcare professionals develop a treatment plan that is tailored to the patient's specific needs.

In addition, genetic testing can also provide valuable information about the patient's risk for developing other genetic conditions in the future. This information can be used to help the patient make informed decisions about their healthcare and to take steps to prevent or manage these conditions.

Conclusion

If you or your child is experiencing symptoms of USB1 Gene Poikiloderma with Neutropenia, it is important to seek medical attention and consider genetic testing. An NGS Genetic DNA Test can provide valuable information about the patient's genetic makeup and can help healthcare professionals make an accurate diagnosis.

While the cost of this test can vary, it is typically around INR 20,000 in India. If you have concerns about the cost of genetic testing, it is important to speak with your healthcare provider and insurance provider to see if this test is covered under your plan.

By getting a proper diagnosis and developing a treatment plan, individuals with USB1 Gene Poikiloderma with Neutropenia can manage their symptoms and live a healthy, fulfilling life.

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 USB1 Gene Poikiloderma with neutropenia NGS Genetic DNA Test