Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASCL1 gene for Central hypoventilation syndrome, congenital

PreTest Information

Clinical History of Patient who is going for ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene ASCL1

Detail Description

ASCL1 Gene Central Hypoventilation Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Central hypoventilation syndrome (CHS) is a rare genetic disorder that affects the breathing control centers in the brainstem. It is also known as Ondine's curse, named after a mythological character who was cursed to forget to breathe while sleeping. CHS can be caused by mutations in several genes, including the ASCL1 gene.

ASCL1 gene mutations are associated with congenital central hypoventilation syndrome (CCHS), a type of CHS that is present at birth. CCHS affects the autonomic nervous system, which controls involuntary functions such as breathing, heart rate, and digestion. Individuals with CCHS have difficulty breathing during sleep and may require mechanical ventilation to survive.

Symptoms of ASCL1 Gene Central Hypoventilation Syndrome

The symptoms of ASCL1 gene central hypoventilation syndrome can vary, but they typically include:

• Difficulty breathing during sleep
• Daytime sleepiness
• Hypercapnia (elevated carbon dioxide levels in the blood)
• Hypoxemia (low oxygen levels in the blood)
• Bradycardia (slow heart rate)
• Difficulty swallowing
• Reduced or absent sense of smell

These symptoms may be present at birth or may develop later in life. They may also worsen over time.

Diagnosis of ASCL1 Gene Central Hypoventilation Syndrome

Diagnosis of ASCL1 gene central hypoventilation syndrome typically involves a combination of clinical evaluation, genetic testing, and polysomnography (sleep study). A physician may perform a physical exam to assess breathing function and may order blood tests to measure oxygen and carbon dioxide levels in the blood.

Genetic testing can confirm a diagnosis of ASCL1 gene central hypoventilation syndrome. This may involve targeted gene sequencing or next-generation sequencing (NGS) of multiple genes associated with CHS. NGS is a powerful tool that can sequence multiple genes simultaneously, allowing for a more comprehensive analysis of genetic mutations.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for ASCL1 gene central hypoventilation syndrome in India can vary depending on the laboratory and the specific test ordered. However, the cost typically ranges from INR 15,000 to INR 25,000.

DNA Labs India is a leading provider of genetic testing services in India. They offer a range of NGS genetic DNA tests, including tests for ASCL1 gene central hypoventilation syndrome. Their tests are highly accurate and provide fast turnaround times.

Conclusion

ASCL1 gene central hypoventilation syndrome is a rare genetic disorder that can cause breathing difficulties and other symptoms. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and polysomnography. NGS genetic DNA testing is a powerful tool that can confirm a diagnosis of ASCL1 gene central hypoventilation syndrome. The cost of an NGS genetic DNA test in India can vary, but DNA Labs India offers affordable and accurate testing services.

If you suspect that you or a loved one may have ASCL1 gene central hypoventilation syndrome, it is important to seek medical evaluation and testing. Early diagnosis and treatment can improve outcomes and quality of life.

The ASCL1 gene, also known as Achaete-Scute Family BHLH Transcription Factor 1, is associated with Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine's Curse. CCHS is a rare neurological disorder characterized by impaired control of breathing, particularly during sleep. Individuals with CCHS may have hypoventilation (inadequate breathing) and a reduced response to increased carbon dioxide levels.

Mutations in the ASCL1 gene have been linked to a subtype of Congenital Central Hypoventilation Syndrome. This gene plays a role in the development of neural crest cells, which are involved in the formation of various tissues, including those related to the autonomic nervous system responsible for regulating breathing.

A genetic test for the ASCL1 gene involves analyzing an individual's DNA to identify any mutations or variations that may be associated with Congenital Central Hypoventilation Syndrome caused by ASCL1 gene mutations.

If you or someone you know is undergoing genetic testing for the ASCL1 gene or any other genetic disorder, it's important to work closely with a medical geneticist, genetic counselor, or healthcare provider who specializes in genetics. They can provide information about the test, interpret the results, discuss the implications, and guide you through any potential medical or lifestyle considerations based on the findings.

Genetic testing can provide valuable insights into the underlying causes of certain conditions, which can lead to more accurate diagnoses and help inform treatment strategies and management plans.