Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMLHE gene for Autism susceptibility, X-linked type 6

PreTest Information

Clinical History of Patient who is going for TMLHE Gene Autism susceptibility, X-linked type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMLHE Gene Autism susceptibility, X-linked type 6

Detail Description

TMLHE Gene Autism Susceptibility, X-linked type 6 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Autism is a complex neurodevelopmental disorder that affects communication, social interaction, and behavior. According to the Centers for Disease Control and Prevention (CDC), autism affects 1 in 59 children in the United States. While the exact cause of autism is not known, research has suggested that genetics may play a role in its development.

One gene that has been implicated in autism susceptibility is the TMLHE gene, which is located on the X chromosome. Mutations in this gene have been associated with X-linked type 6 intellectual disability and autism spectrum disorder.

What is the TMLHE gene?

The TMLHE gene encodes an enzyme called trimethyllysine dioxygenase, which is involved in the breakdown of a type of amino acid called lysine. Lysine is an essential amino acid that is important for the synthesis of proteins and other molecules in the body.

When the TMLHE gene is mutated, the enzyme it produces is not able to function properly. This can lead to a buildup of certain byproducts in the body, which can have toxic effects on the brain and nervous system.

How is the TMLHE gene linked to autism susceptibility?

Research has suggested that mutations in the TMLHE gene may increase the risk of developing autism spectrum disorder. Studies have found that individuals with autism are more likely to have mutations in this gene than individuals without autism.

While not all individuals with mutations in the TMLHE gene will develop autism, the presence of these mutations may increase the risk of developing this disorder.

How is TMLHE gene autism susceptibility diagnosed?

Diagnosis of TMLHE gene autism susceptibility can be done through genetic testing. Next-generation sequencing (NGS) is a type of genetic test that can identify mutations in the TMLHE gene.

NGS is a powerful tool for identifying genetic mutations associated with autism and other disorders. This type of testing can be done on a blood sample or other tissue sample from the individual being tested.

What are the symptoms of TMLHE gene autism susceptibility?

The symptoms of TMLHE gene autism susceptibility are similar to those of other types of autism spectrum disorder. These may include:

• Difficulty with social interaction and communication
• Repetitive behaviors or routines
• Difficulty with sensory processing
• Delayed language development
• Intellectual disability

It is important to note that not all individuals with mutations in the TMLHE gene will develop autism or intellectual disability. The severity of symptoms can vary widely among individuals.

What is the cost of TMLHE gene autism susceptibility testing?

The cost of TMLHE gene autism susceptibility testing can vary depending on the testing facility and location. In India, the cost of NGS genetic testing for this gene is typically around INR 20,000.

It is important to note that genetic testing for autism susceptibility is not typically covered by insurance. However, some testing facilities may offer payment plans or financial assistance to help offset the cost of testing.

Conclusion

The TMLHE gene is one of many genes that has been implicated in autism susceptibility. Genetic testing can help identify mutations in this gene, which may increase the risk of developing autism spectrum disorder.

If you or a loved one is experiencing symptoms of autism, it is important to speak with a healthcare professional for diagnosis and treatment. Genetic testing may be recommended as part of the diagnostic process.

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 TMLHE Gene Autism susceptibility, X-linked type 6 NGS Genetic DNA Test