Short Description

NGS genetic DNA test detecets for variant and mutation detection in AAAS gene for Achalasia addisonianism alacrimia syndrome

PreTest Information

Clinical History of Patient who is going for AAAS Gene Achalasia addisonianism alacrimia syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AAAS Gene Achalasia addisonianism alacrimia syndrome

Detail Description

AAAS Gene Achalasia Addisionianism Alacrimia Syndrome NGS Genetic DNA Test

AAAS gene Achalasia Addisionianism Alacrimia Syndrome is a rare genetic disorder that affects the autonomic nervous system. The disorder is caused by mutations in the AAAS gene, which provides instructions for making a protein called ALADIN.

ALADIN is essential for the proper functioning of the autonomic nervous system, which controls involuntary body functions such as heart rate, digestion, and breathing. Mutations in the AAAS gene disrupt the production of ALADIN, leading to the symptoms of AAAS gene Achalasia Addisionianism Alacrimia Syndrome.

Symptoms of AAAS Gene Achalasia Addisionianism Alacrimia Syndrome

The symptoms of AAAS gene Achalasia Addisionianism Alacrimia Syndrome can vary widely depending on the severity of the mutation. Some of the common symptoms include:

• Achalasia - a condition in which the muscles of the esophagus do not work properly, leading to difficulty swallowing
• Addisonianism - a condition in which the adrenal glands do not produce enough hormones
• Alacrimia - a condition in which the eyes do not produce enough tears
• Autonomic dysfunction - a condition in which the autonomic nervous system does not function properly

Diagnosis of AAAS Gene Achalasia Addisionianism Alacrimia Syndrome

AAAS gene Achalasia Addisionianism Alacrimia Syndrome can be diagnosed through a genetic test called next-generation sequencing (NGS). This test analyzes a person's DNA to detect mutations in the AAAS gene.

The test involves taking a sample of the patient's blood or saliva and sending it to a laboratory for analysis. The results of the test can confirm a diagnosis of AAAS gene Achalasia Addisionianism Alacrimia Syndrome and help guide treatment.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA Test for AAAS Gene Achalasia Addisionianism Alacrimia Syndrome in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

AAAS gene Achalasia Addisionianism Alacrimia Syndrome is a rare genetic disorder that affects the autonomic nervous system. The disorder can be diagnosed through a genetic test called next-generation sequencing (NGS), which analyzes a person's DNA for mutations in the AAAS gene. The cost of the test in India is approximately INR 20,000. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for people with AAAS gene Achalasia Addisionianism Alacrimia Syndrome.

For more information and to schedule an appointment for NGS Genetic DNA Test, contact DNA Labs India today.