Short Description

NGS genetic DNA test detecets for variant and mutation detection in TBC1D24 gene for DOOR syndrome

PreTest Information

Clinical History of Patient who is going for TBC1D24 Gene DOOR syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TBC1D24 Gene DOOR syndrome NGS Genetic DNA Test gene TBC1D24

Detail Description

TBC1D24 Gene DOOR Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

DOOR syndrome is a rare genetic disorder that affects the nervous system, causing developmental delay, intellectual disability, seizures, and other symptoms. It is caused by mutations in the TBC1D24 gene, which provides instructions for making a protein that helps regulate the activity of other proteins in nerve cells. DOOR syndrome is inherited in an autosomal recessive manner, which means that a child must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Symptoms of DOOR Syndrome

The symptoms of DOOR syndrome can vary widely from person to person, even among members of the same family. Some common symptoms of DOOR syndrome include:

• Developmental delay
• Intellectual disability
• Seizures
• Ataxia (problems with balance and coordination)
• Hypotonia (low muscle tone)
• Hearing loss
• Vision problems

Because DOOR syndrome is so rare, it can be difficult to diagnose. Many people with DOOR syndrome are initially diagnosed with other neurological disorders, such as cerebral palsy or epilepsy. However, genetic testing can help confirm a diagnosis of DOOR syndrome.

Diagnosis of DOOR Syndrome

DOOR syndrome can be diagnosed through genetic testing, which looks for mutations in the TBC1D24 gene. There are several types of genetic testing that can be used to diagnose DOOR syndrome, including:

• Sanger sequencing
• Next-generation sequencing (NGS)
• Whole exome sequencing (WES)
• Whole genome sequencing (WGS)

NGS is a powerful tool for diagnosing genetic disorders, as it can analyze multiple genes at once and provide results quickly. NGS can be used to sequence the entire TBC1D24 gene, or just specific regions of the gene that are known to be associated with DOOR syndrome.

TBC1D24 Gene DOOR Syndrome NGS Genetic DNA Test Cost

The cost of a TBC1D24 gene DOOR syndrome NGS genetic DNA test can vary depending on several factors, including the type of testing used, the laboratory performing the test, and any insurance coverage that may apply. In India, the cost of a TBC1D24 gene DOOR syndrome NGS genetic DNA test can range from INR 15,000 to INR 25,000.

It is important to note that genetic testing is not always covered by insurance, and some insurers may require pre-authorization or other documentation before covering the cost of testing. Patients should check with their insurance provider to determine their coverage options.

Conclusion

DOOR syndrome is a rare genetic disorder that can cause a range of neurological symptoms, including developmental delay, intellectual disability, seizures, and ataxia. Genetic testing, including NGS, can help diagnose DOOR syndrome by identifying mutations in the TBC1D24 gene. The cost of a TBC1D24 gene DOOR syndrome NGS genetic DNA test can vary, but it is an important tool for diagnosing and managing this rare disorder.

At DNA Labs India, we offer a variety of genetic testing options, including NGS, to help diagnose genetic disorders like DOOR syndrome. Contact us today to learn more about our services.

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 TBC1D24 Gene DOOR syndrome NGS Genetic DNA Test