Short Description

NGS genetic DNA test detecets for variant and mutation detection in PGAP1 gene for Mental retardation, autosomal recessive type 42

PreTest Information

Clinical History of Patient who is going for PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PGAP1 Gene Mental retardation, autosomal recessive type 42

Detail Description

PGAP1 Gene Mental Retardation: Autosomal Recessive Type 42

PGAP1 gene mental retardation, autosomal recessive type 42 is a genetic disorder that affects the development and function of the brain. It is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The PGAP1 gene provides instructions for making a protein that is involved in the formation of the outer layer of nerve cells in the brain. Mutations in this gene can lead to a range of symptoms, including intellectual disability, delayed development, seizures, and movement problems.

Symptoms of PGAP1 Gene Mental Retardation

The symptoms of PGAP1 gene mental retardation, autosomal recessive type 42 can vary from person to person and can range from mild to severe. Some of the most common symptoms of this condition include:

• Intellectual disability
• Delayed development
• Seizures
• Movement problems
• Speech and language difficulties
• Behavioral problems
• Abnormal facial features
• Muscle stiffness

Diagnosis of PGAP1 Gene Mental Retardation

Diagnosing PGAP1 gene mental retardation, autosomal recessive type 42 can be challenging. A doctor will typically perform a physical examination and take a detailed medical history. Genetic testing can also be used to confirm the diagnosis. Next-generation sequencing (NGS) genetic DNA testing can detect mutations in the PGAP1 gene and provide a definitive diagnosis. This type of testing is highly accurate and can help to identify carriers of the condition within families.

Cost of PGAP1 Gene Mental Retardation NGS Genetic DNA Test

The cost of PGAP1 gene mental retardation NGS genetic DNA testing in India is approximately INR 20,000. This cost may vary depending on the specific laboratory and testing method used. Many insurance companies cover the cost of genetic testing, so it is important to check with your provider to determine your coverage.

Conclusion

PGAP1 gene mental retardation, autosomal recessive type 42 is a rare genetic disorder that affects the development and function of the brain. Symptoms can vary from person to person and can range from mild to severe. Diagnosis typically involves a physical examination, medical history, and genetic testing. NGS genetic DNA testing is highly accurate and can provide a definitive diagnosis. The cost of testing may vary depending on the laboratory and testing method used. If you suspect that you or a loved one may have PGAP1 gene mental retardation, it is important to speak with a healthcare provider to determine the best course of action.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for PGAP1 gene mental retardation. Our team of experts is committed to providing accurate and timely testing results to help you make informed decisions about your health. Contact us today to learn more.

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 PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic DNA Test