Short Description

NGS genetic DNA test detecets for variant and mutation detection in MECP2 gene for Central hypoventilation syndrome, congenital

PreTest Information

Clinical History of Patient who is going for MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene MECP2

Detail Description

MECP2 Gene Central Hypoventilation Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Central hypoventilation syndrome (CHS) is a rare genetic disorder characterized by a decreased drive to breathe during sleep or when awake. CHS is often caused by mutations in the MECP2 gene, which is located on the X chromosome. CHS is also known as congenital central hypoventilation syndrome (CCHS) or Ondine's curse.

Symptoms of CHS

The symptoms of CHS can vary from person to person, but they usually develop within the first few months of life. The most common symptoms of CHS include:

• Difficulty breathing during sleep
• Difficulty breathing during waking hours
• Difficulty swallowing
• Abnormal heart rate or rhythm
• Excessive sweating during sleep
• Low blood oxygen levels
• Difficulty gaining weight
• Delayed development

Diagnosis of CHS

Diagnosing CHS typically involves a physical exam, medical history, and genetic testing. A sleep study may also be performed to monitor breathing patterns during sleep. Genetic testing can identify mutations in the MECP2 gene, which can confirm a diagnosis of CHS.

NGS Genetic DNA Test Cost for CHS

NGS genetic DNA testing for CHS is available in India and costs around INR 20,000. This test uses next-generation sequencing technology to analyze the entire MECP2 gene and identify any mutations that may be causing CHS. The test is non-invasive and involves collecting a small blood or saliva sample from the patient.

Conclusion

CHS is a rare genetic disorder that can cause a range of symptoms, including difficulty breathing and abnormal heart rate. Genetic testing using NGS technology can help identify mutations in the MECP2 gene that may be causing CHS. The cost of this test in India is around INR 20,000. Early diagnosis and treatment can help improve outcomes for individuals with CHS.

If you suspect that you or a loved one may have CHS, it is important to speak with a healthcare provider who can provide a diagnosis and recommend appropriate treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for CHS. Contact us today to learn more about our services and how we can help you.

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 MECP2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test