ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test

At DNA Labs UAE, we offer the ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test. This test helps diagnose and identify the genetic variations or mutations in the ERCC6 gene that may be responsible for the syndrome.

Test Details

The ERCC6 gene is associated with a genetic disorder called cerebrooculofacioskeletal syndrome type 1 (COFS1). This syndrome is a rare autosomal recessive disorder characterized by a range of symptoms including intellectual disability, growth retardation, microcephaly (small head size), cataracts, skeletal abnormalities, and facial dysmorphism.

NGS (Next Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the detection of genetic variations or mutations that may be associated with a particular disorder. In the case of COFS1, NGS genetic testing can be used to identify mutations in the ERCC6 gene that may be responsible for the syndrome.

This type of genetic testing involves collecting a DNA sample, usually through a blood sample, and sequencing the DNA to analyze the entire coding region of the ERCC6 gene. Any mutations or variations found in the gene can then be compared to known disease-causing mutations to determine if they are responsible for the symptoms observed in the individual being tested.

Test Components and Price

• Test Name: ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test
• Components: NGS Technology
• Price: 4400.0 AED
• Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
• Report Delivery: 3 to 4 Weeks
• Method: NGS Technology
• Test Type: Dysmorphology
• Doctor: Pediatrics
• Test Department: Genetics
• Pre Test 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

Benefits of the Test

NGS genetic testing for COFS1 can help with the diagnosis of the syndrome, provide information about disease progression and management, and assist with genetic counseling for affected individuals and their families.

By identifying the specific mutations in the ERCC6 gene, this test can help healthcare professionals understand the underlying cause of the symptoms observed in the individual being tested. This information can then be used to develop appropriate treatment plans and provide accurate genetic counseling for affected individuals and their families.

At DNA Labs UAE, we understand the importance of accurate and reliable genetic testing. Our team of experts uses state-of-the-art NGS technology to ensure the highest quality results. With a report delivery time of 3 to 4 weeks, we strive to provide timely and comprehensive genetic testing services.

For more information or to schedule an appointment for the ERCC6 Gene Cerebrooculofacioskeletal Syndrome Type 1 Genetic Test, please contact us.