Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPL10 gene for Autism susceptibility, X-linked type 5

PreTest Information

Clinical History of Patient who is going for RPL10 Gene Autism susceptibility, X-linked type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPL10 Gene Autism susceptibility, X-linked type 5

Detail Description

RPL10 Gene and Autism Susceptibility: Understanding X-linked Type 5 NGS Genetic DNA Test

Autism is a complex neurodevelopmental disorder that affects communication, social interaction, and behavior. While the exact causes of autism are not yet fully understood, research has shown that genetics play a significant role in its development. One gene that has been implicated in autism susceptibility is the RPL10 gene, particularly in cases of X-linked type 5 autism.

What is the RPL10 Gene?

The RPL10 gene, also known as ribosomal protein L10, is located on the X chromosome. This gene is responsible for producing a protein that is essential for the proper functioning of ribosomes, which are the cellular structures responsible for synthesizing proteins. Mutations in the RPL10 gene have been linked to a range of conditions, including developmental disorders like autism.

X-linked Type 5 Autism

X-linked type 5 autism is a rare form of autism that is caused by mutations in the RPL10 gene. This type of autism is inherited in an X-linked pattern, meaning that it primarily affects males. Females can also be carriers of the mutation, but they are typically unaffected or have milder symptoms.

NGS Genetic DNA Test for RPL10 Gene Mutations

A Next-Generation Sequencing (NGS) Genetic DNA Test can be used to identify mutations in the RPL10 gene. This test analyzes the DNA sequence of the gene to identify any changes or variations that may be present. This test can be useful in diagnosing X-linked type 5 autism in males and in identifying female carriers of the mutation.

Cost of NGS Genetic DNA Test for RPL10 Gene Mutations

The cost of an NGS Genetic DNA Test for RPL10 gene mutations in India is around INR 20,000. This cost may vary depending on the specific testing facility and the extent of the analysis required. It is important to speak with a genetic counselor or healthcare provider to determine if this test is appropriate and necessary for your individual situation.

Symptoms of X-linked Type 5 Autism

The symptoms of X-linked type 5 autism can vary widely, but they typically include delayed or absent speech, intellectual disability, and behavioral issues like hyperactivity and aggression. These symptoms may be more severe in males than in females.

Diagnosing X-linked Type 5 Autism

X-linked type 5 autism can be diagnosed through genetic testing, as well as through a comprehensive evaluation of symptoms and developmental history. A healthcare provider or genetic counselor can help guide families through the diagnostic process and provide support and resources for managing the condition.

Conclusion

The RPL10 gene has been identified as a potential contributor to autism susceptibility, particularly in cases of X-linked type 5 autism. Genetic testing can be used to identify mutations in the RPL10 gene and diagnose this rare form of autism. If you suspect that you or a loved one may be affected by X-linked type 5 autism, speak with a healthcare provider or genetic counselor to explore testing and treatment options.

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 RPL10 Gene Autism susceptibility, X-linked type 5 NGS Genetic DNA Test