Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC4 gene for XFE progeroid syndrome

PreTest Information

Clinical History of Patient who is going for ERCC4 Gene XFE progeroid syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC4 Gene XFE progeroid syndrome NGS Genetic DNA Test gene ERCC4

Detail Description

ERCC4 Gene XFE Progeroid Syndrome NGS Genetic DNA Test Cost INR 20,000: Symptoms, Diagnosis and Treatment

ERCC4 Gene XFE Progeroid Syndrome is a rare genetic disorder that affects the individual's physical appearance and overall health. It is caused by mutations in the ERCC4 gene, which is responsible for repairing damaged DNA. This syndrome is characterized by premature aging, bone and joint abnormalities, and various other symptoms.

Symptoms of ERCC4 Gene XFE Progeroid Syndrome

The symptoms of ERCC4 Gene XFE Progeroid Syndrome vary from person to person, but the most common symptoms include:

• Premature aging
• Short stature
• Abnormal bone development
• Joint stiffness and pain
• Loss of vision and hearing
• High-pitched voice
• Wrinkled skin
• Delayed puberty

Diagnosis of ERCC4 Gene XFE Progeroid Syndrome

ERCC4 Gene XFE Progeroid Syndrome can be diagnosed through various tests, including:

• Physical examination: An examination of the patient's physical appearance and symptoms can help in diagnosing the syndrome.
• Genetic testing: A DNA test can identify mutations in the ERCC4 gene, confirming the diagnosis of the syndrome.
• Imaging tests: X-rays and MRI scans can help in identifying bone and joint abnormalities in the patient.

Treatment of ERCC4 Gene XFE Progeroid Syndrome

There is no cure for ERCC4 Gene XFE Progeroid Syndrome, and treatment is mainly aimed at managing the symptoms and improving the patient's quality of life. Treatment options may include:

• Pain management: Pain relievers and physical therapy can help in managing joint pain and stiffness.
• Hormone replacement therapy: Hormone therapy can help in managing delayed puberty and other hormonal imbalances.
• Surgery: In some cases, surgery may be required to correct bone and joint abnormalities.

NGS Genetic DNA Test Cost INR 20,000

The NGS Genetic DNA Test for ERCC4 Gene XFE Progeroid Syndrome costs INR 20,000 in DNA Labs India. This test uses next-generation sequencing technology to identify mutations in the ERCC4 gene, confirming the diagnosis of the syndrome. The test is highly accurate and reliable, providing accurate results in a short period of time.

Conclusion

ERCC4 Gene XFE Progeroid Syndrome is a rare genetic disorder that can affect an individual's physical appearance and overall health. It is caused by mutations in the ERCC4 gene and can be diagnosed through physical examination, genetic testing, and imaging tests. There is no cure for the syndrome, and treatment is aimed at managing the symptoms and improving the patient's quality of life. The NGS Genetic DNA Test for ERCC4 Gene XFE Progeroid Syndrome costs INR 20,000 in DNA Labs India and is a highly accurate and reliable test for confirming the diagnosis of the syndrome.

If you suspect that you or a loved one may have ERCC4 Gene XFE Progeroid Syndrome, it is important to seek medical attention and undergo genetic testing to confirm the diagnosis and receive appropriate treatment.