Short Description

NGS genetic DNA test detecets for variant and mutation detection in L1CAM gene for Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction

PreTest 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

Detail Description

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

Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction are rare genetic disorders that affect the central nervous system and gastrointestinal tract, respectively. These disorders are caused by mutations in the L1CAM gene, which provides instructions for making a protein that is important for the development and maintenance of nerve cells and the intestinal lining.

Symptoms

Symptoms of hydrocephalus with aqueductal stenosis may include:

• Headaches
• Nausea and vomiting
• Visual disturbances
• Seizures
• Poor coordination
• Difficulty walking

Symptoms of congenital intestinal pseudoobstruction may include:

• Abdominal pain and distension
• Constipation or diarrhea
• Vomiting
• Poor growth
• Malnutrition

Diagnosis

Diagnosis of hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction is based on clinical examination, imaging studies such as MRI and CT scans, and genetic testing. Genetic testing is particularly important in confirming the diagnosis and identifying the specific mutation in the L1CAM gene.

NGS Genetic DNA Test

DNA Labs India offers NGS Genetic DNA Test for L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction at a cost of INR 20,000. This test uses Next-Generation Sequencing (NGS) technology to analyze the entire coding region of the L1CAM gene, enabling the detection of mutations that may be missed by other genetic testing methods. This test provides a comprehensive and accurate diagnosis of the disorder, which is important for guiding treatment and management.

Conclusion

Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction are rare genetic disorders that can have serious consequences if left untreated. Early diagnosis and management are important for improving outcomes. DNA Labs India offers NGS Genetic DNA Test for L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction at an affordable cost, making genetic testing accessible to all.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic DNA Test