Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC16A2 gene for Allan-Herndon-Dudley syndrome

PreTest Information

Clinical History of Patient who is going for SLC16A2 Gene Allan-Herndon-Dudley syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC16A2 Gene Allan-Herndon-Dudley syndrome

Detail Description

SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Allan-Herndon-Dudley syndrome (AHDS) is a rare genetic disorder that is caused by a mutation in the SLC16A2 gene. This gene plays a crucial role in the transport of thyroid hormone into the brain, and a mutation in this gene can lead to a severe impairment of neurological function.

As AHDS is a genetic disorder, it can be diagnosed using genetic testing. Next-generation sequencing (NGS) is a powerful tool that can be used to identify mutations in the SLC16A2 gene. NGS allows for the analysis of multiple genes simultaneously, making it an efficient and cost-effective way to diagnose AHDS.

Symptoms of Allan-Herndon-Dudley Syndrome

The symptoms of AHDS are typically present at birth or become apparent in early infancy. The severity of the symptoms can vary, but they generally include:

• Delayed development
• Poor muscle tone
• Difficulty with movement
• Seizures
• Intellectual disability

Individuals with AHDS may also have difficulty with feeding and may experience gastrointestinal issues.

Diagnosis of Allan-Herndon-Dudley Syndrome

Diagnosis of AHDS can be challenging, as the symptoms can be similar to other neurological disorders. However, genetic testing can provide a definitive diagnosis. NGS is the most common method used to diagnose AHDS, as it allows for the analysis of multiple genes simultaneously.

NGS involves sequencing the DNA of the patient and comparing it to a reference genome. This allows for the identification of mutations in the SLC16A2 gene. NGS is a highly accurate and sensitive method of diagnosis and can be performed on a blood or saliva sample.

Cost of NGS Genetic DNA Test for Allan-Herndon-Dudley Syndrome

The cost of NGS genetic testing for AHDS can vary depending on the laboratory performing the test. However, on average, the cost of NGS testing for AHDS in India is around INR 20,000.

It is important to note that genetic testing is typically not covered by insurance, so patients should be prepared to pay out of pocket for the test.

Conclusion

Allan-Herndon-Dudley syndrome is a rare genetic disorder that can have severe neurological consequences. Genetic testing, particularly NGS, is a powerful tool that can be used to diagnose AHDS. While the cost of genetic testing can be a barrier to some, it is important to consider the potential benefits of a definitive diagnosis. If you suspect that you or a loved one may have AHDS, speak to your doctor about genetic testing options.

Are you looking for a reliable and accurate genetic testing laboratory in India? DNA Labs India offers a wide range of genetic testing services, including NGS testing for AHDS. Contact us today to learn more about our services and how we can help you.

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 SLC16A2 Gene Allan-Herndon-Dudley syndrome NGS Genetic DNA Test