ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 Genetic Test sale cost 4400 AED
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ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The ERCC1 Gene Cerebrooculofacioskeletal Syndrome Type 4 Genetic Test is a specialized diagnostic procedure aimed at detecting mutations in the ERCC1 gene, which are associated with Cerebrooculofacioskeletal Syndrome Type 4 (COFS4). This rare genetic disorder is characterized by developmental delays, microcephaly, impaired cranial nerve function, and other physical abnormalities. The test is crucial for early diagnosis and management of the condition, allowing for tailored care and support for affected individuals.

Performed at DNA Labs UAE, a leading facility in genetic testing, this test offers a comprehensive analysis of the ERCC1 gene to identify potential mutations. The cost of the test is set at 4400 AED, reflecting the sophisticated technology and expertise required to accurately diagnose this complex condition. By opting for this test, patients and their families can gain valuable insights into the genetic underpinnings of COFS4, facilitating informed decisions about treatment and care.

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ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 Genetic Test

At DNA Labs UAE, we offer the ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 Genetic Test. This test is designed to detect genetic variations in the ERCC1 gene associated with Cerebrooculofacioskeletal syndrome type 4 (COFS4). COFS4 is a rare genetic disorder characterized by severe intellectual disability, progressive microcephaly, congenital cataracts, facial dysmorphism, skeletal abnormalities, and early-onset progressive sensorineural hearing loss.

Our ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 Genetic Test utilizes NGS (Next-Generation Sequencing) technology, which allows for the analysis of multiple genes simultaneously. This advanced sequencing technology enables the detection of genetic variations, such as mutations or deletions, in the ERCC1 gene and other genes associated with COFS4.

Test Details

  • Test Name: ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 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
  • Test Type: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by COFS4. This will help in identifying the specific genetic cause of COFS4 in affected individuals.

Benefits of the Test

The results of the ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 Genetic Test can provide valuable information for genetic counseling, early diagnosis, and potential treatment options for affected individuals and their families. By identifying the specific genetic cause of COFS4, healthcare professionals can develop personalized treatment plans and provide appropriate support to affected individuals.

For more information about the ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 Genetic Test or to schedule an appointment, please contact DNA Labs UAE.

Test Name ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 Genetic Test
Components
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 ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC1 Gene Cerebrooculofacioskeletal syndrome type 4 NGS Genetic DNA Test gene ERCC1
Test Details

The ERCC1 gene is associated with the development of Cerebrooculofacioskeletal syndrome type 4 (COFS4), which is a rare genetic disorder characterized by severe intellectual disability, progressive microcephaly (abnormally small head size), congenital cataracts, facial dysmorphism, skeletal abnormalities, and early-onset progressive sensorineural hearing loss.

NGS (Next-Generation Sequencing) Genetic Testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of genetic variations, such as mutations or deletions, in the ERCC1 gene and other genes associated with COFS4. NGS testing provides a comprehensive and efficient approach to diagnose genetic disorders and can help in identifying the specific genetic cause of COFS4 in affected individuals.

The results of an NGS genetic test for COFS4 can provide valuable information for genetic counseling, early diagnosis, and potential treatment options for affected individuals and their families.

SKU: TEST-4042 Category:

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