Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC6 gene for Cerebrooculofacioskeletal syndrome type 1

PreTest Information

Clinical History of Patient who is going for ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene Cerebrooculofacioskeletal syndrome type 1 NGS Genetic DNA Test gene ERCC6

Detail Description

ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ERCC6 gene cerebrooculofacioskeletal syndrome type 1 is a rare genetic disorder that affects the development of the brain, eyes, and bones. This syndrome is caused by mutations in the ERCC6 gene and is inherited in an autosomal recessive pattern. The disorder is characterized by a wide range of symptoms that can vary in severity from person to person. Symptoms of ERCC6 gene cerebrooculofacioskeletal syndrome type 1 include:

• Microcephaly (small head size)
• Intellectual disability
• Seizures
• Visual impairment
• Abnormal bone development

If you or a loved one is experiencing any of these symptoms, it is important to seek medical attention as soon as possible. A doctor may recommend genetic testing to confirm a diagnosis of ERCC6 gene cerebrooculofacioskeletal syndrome type 1.

NGS Genetic DNA Test for ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1

The most accurate way to diagnose ERCC6 gene cerebrooculofacioskeletal syndrome type 1 is through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can detect mutations in the ERCC6 gene with a high degree of accuracy. NGS testing can also identify other genetic variations that may be contributing to a person's symptoms.

NGS genetic DNA testing for ERCC6 gene cerebrooculofacioskeletal syndrome type 1 is now available in India. DNA Labs India offers this test at a cost of INR 20,000. The test can be ordered online and is conducted using a simple saliva or blood sample.

Benefits of NGS Genetic DNA Testing for ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1

NGS genetic DNA testing for ERCC6 gene cerebrooculofacioskeletal syndrome type 1 has many benefits. It can:

• Provide an accurate diagnosis
• Help doctors develop a personalized treatment plan
• Identify other genetic variations that may be contributing to symptoms
• Help family members understand their risk of inheriting the disorder

NGS genetic DNA testing for ERCC6 gene cerebrooculofacioskeletal syndrome type 1 is a valuable tool for families who are affected by this rare disorder. It can provide answers and help guide treatment decisions.

Conclusion

ERCC6 gene cerebrooculofacioskeletal syndrome type 1 is a rare genetic disorder that can cause a wide range of symptoms. If you or a loved one is experiencing any of these symptoms, it is important to seek medical attention as soon as possible. NGS genetic DNA testing for ERCC6 gene cerebrooculofacioskeletal syndrome type 1 is now available in India and can provide an accurate diagnosis and personalized treatment plan. Contact DNA Labs India today to learn more about this valuable testing option.