Short Description

NGS genetic DNA test detecets for variant and mutation detection in GMPPA gene for Alacrima, achalasia and mental retardation syndrome

PreTest Information

Clinical History of Patient who is going for GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic DNA Test gene GMPPA

Detail Description

GMPPA Gene Alacrima, Achalasia and Mental Retardation Syndrome NGS Genetic DNA Test

GMPPA Gene Alacrima, Achalasia and Mental Retardation Syndrome (GAARS) is a rare genetic disorder that affects the development of the nervous system. It is caused by mutations in the GMPPA gene, which provides instructions for making a protein that is essential for normal nerve cell function. GAARS is characterized by three main symptoms:

• Alacrima: reduced or absent tear production
• Achalasia: a disorder that affects the ability of the esophagus to move food into the stomach
• Mental retardation: intellectual disability that is present from birth or early childhood

GAARS is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated GMPPA gene – one from each parent – to develop the disorder. Individuals who inherit only one copy of the mutated gene are called carriers and do not have GAARS.

Symptoms of GAARS

The symptoms of GAARS can vary widely between affected individuals, even among those with the same mutations in the GMPPA gene. The severity of symptoms can also vary, even within the same family.

Alacrima is often the first symptom of GAARS to appear and can be diagnosed at an early age. Children with GAARS may have difficulty producing tears, which can cause dry eyes and increase the risk of eye infections.

Achalasia can cause difficulty swallowing, chest pain, and regurgitation of food. It can also lead to malnutrition and weight loss if not properly treated.

Mental retardation can range from mild to severe and can affect a person's ability to learn, communicate, and live independently. Some individuals with GAARS may also have behavioral problems or psychiatric disorders.

Diagnosis of GAARS

GAARS is diagnosed based on clinical features, family history, and genetic testing. A doctor may suspect GAARS in an individual with alacrima, achalasia, and intellectual disability. A physical exam can also reveal other signs of the disorder, such as dry skin, reduced reflexes, or abnormal eye movements.

Genetic testing can confirm a diagnosis of GAARS by identifying mutations in the GMPPA gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it a useful tool for diagnosing rare genetic disorders like GAARS.

Cost of GAARS NGS Genetic DNA Test

The cost of a GAARS NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the laboratory and the specific testing method used.

Conclusion

GAARS is a rare genetic disorder that affects the development of the nervous system. It is caused by mutations in the GMPPA gene and is inherited in an autosomal recessive manner. Symptoms of GAARS can include alacrima, achalasia, and mental retardation. Diagnosis is based on clinical features and genetic testing, including NGS. The cost of a GAARS NGS genetic DNA test in India is approximately INR 20,000.

If you or a loved one is experiencing symptoms of GAARS, it is important to speak with a doctor and consider genetic testing for a definitive diagnosis.

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 GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic DNA Test