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L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction Genetic Test

4,400 د.إ

-21%

The “L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction Genetic Test” is a specialized diagnostic examination offered by DNA Labs UAE, designed to detect mutations in the L1CAM gene. These mutations are linked to a spectrum of severe conditions including hydrocephalus, characterized by the accumulation of cerebrospinal fluid in the brain due to aqueductal stenosis (a narrowing of the brain’s aqueduct of Sylvius), and congenital intestinal pseudo-obstruction, a severe disorder affecting the normal movements of the intestines. The test, priced at 4400 AED, is crucial for early diagnosis and management, guiding treatment plans and genetic counseling for affected families. It involves collecting a DNA sample, usually through a blood draw, and analyzing it for specific genetic alterations in the L1CAM gene, providing insights into the risk and presence of these complex conditions.

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  • This test is not intended for medical diagnosis or treatment
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L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction

At DNA Labs UAE, we offer a comprehensive genetic test for L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. This test helps in diagnosing and understanding the symptoms associated with these conditions. The cost of the test is AED 4400.0.

Test Details

The L1CAM gene is associated with several genetic disorders, including hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. Hydrocephalus with aqueductal stenosis is characterized by the accumulation of cerebrospinal fluid in the brain, leading to increased pressure and potential damage. Aqueductal stenosis refers to the narrowing or blockage of the cerebral aqueduct, which hinders the flow of cerebrospinal fluid between the brain’s ventricles. Congenital intestinal pseudoobstruction is a condition characterized by impaired movement of the intestines, resulting in symptoms similar to those of a mechanical bowel obstruction.

NGS Technology

We utilize Next-Generation Sequencing (NGS) technology for this genetic test. NGS allows for the simultaneous analysis of multiple genes or even the entire genome. It uses high-throughput sequencing technology to rapidly generate large amounts of genetic data. In the context of hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction, NGS genetic testing can identify mutations or variations in the L1CAM gene that may be responsible for these conditions.

Pre Test Information

Prior to the test, it is important to provide the clinical history of the patient who is undergoing the L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction NGS Genetic DNA Test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by these conditions.

Report Delivery

The report for the L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction Genetic Test is typically delivered within 3 to 4 weeks.

Test Department and Doctor

This test is conducted by our Genetics department and is overseen by a Neurologist.

Conclusion

NGS genetic testing for L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction is essential for providing a definitive diagnosis. It aids in treatment decisions, genetic counseling, and family planning. At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services to assist in the management of these conditions.

Test Name L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction
Test Details

The L1CAM gene is associated with several genetic disorders, including hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. Hydrocephalus with aqueductal stenosis is a condition characterized by the buildup of cerebrospinal fluid in the brain, leading to increased pressure and potential damage. Aqueductal stenosis refers to the narrowing or blockage of the cerebral aqueduct, a channel that allows cerebrospinal fluid to flow between the brain’s ventricles.

Congenital intestinal pseudoobstruction is a condition characterized by impaired movement of the intestines, leading to symptoms similar to those of a mechanical bowel obstruction. However, in this condition, there is no physical blockage present. Instead, the muscles of the intestines do not function properly, causing a lack of peristalsis and resulting in symptoms such as abdominal pain, bloating, and constipation.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or even the entire genome. It uses high-throughput sequencing technology to rapidly generate large amounts of genetic data. In the context of hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction, NGS genetic testing can be used to identify mutations or variations in the L1CAM gene that may be responsible for these conditions.

By identifying specific genetic changes in the L1CAM gene, NGS testing can provide a definitive diagnosis for individuals with hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. This information can be crucial for guiding treatment decisions, providing genetic counseling, and informing family planning.

SKU: TEST-1430 Category:

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