Short Description

NGS genetic DNA test detecets for variant and mutation detection in HCFC1 gene for Mental retardation, X-linked type 3

PreTest Information

Clinical History of Patient who is going for HCFC1 Gene Mental retardation, X-linked type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HCFC1 Gene Mental retardation, X-linked type 3

Detail Description

HCFC1 Gene Mental Retardation, X-linked Type 3 NGS Genetic DNA Test

HCFC1 gene mental retardation, X-linked type 3 is a rare genetic disorder that affects males. It is caused by mutations in the HCFC1 gene, which provides instructions for making a protein that is involved in the regulation of gene expression. Mutations in this gene result in the production of a non-functional protein, which leads to cognitive impairment and other developmental delays.

Symptoms of HCFC1 Gene Mental Retardation, X-linked Type 3

The symptoms of HCFC1 gene mental retardation, X-linked type 3 vary in severity and can include:

• Intellectual disability
• Speech and language delays
• Behavioral issues
• Developmental delays
• Seizures
• Abnormal facial features

These symptoms can range from mild to severe and may be present from birth or become more apparent as a child grows older.

Diagnosis of HCFC1 Gene Mental Retardation, X-linked Type 3

The diagnosis of HCFC1 gene mental retardation, X-linked type 3 can be made through genetic testing. This involves analyzing a sample of the patient's DNA for mutations in the HCFC1 gene. Next-generation sequencing (NGS) is a genetic testing method that is used to analyze multiple genes at once, making it a cost-effective and efficient way to diagnose genetic disorders.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for HCFC1 gene mental retardation, X-linked type 3 in India is approximately INR 20,000. This cost may vary depending on the testing facility and any additional tests that may be required.

Conclusion

HCFC1 gene mental retardation, X-linked type 3 is a rare genetic disorder that can cause a range of developmental delays and cognitive impairment in males. Genetic testing, including NGS, can be used to diagnose this disorder, and the cost of testing in India is approximately INR 20,000. Early diagnosis and intervention can help to improve outcomes for individuals with HCFC1 gene mental retardation, X-linked type 3.

If you suspect that you or someone you know may have this disorder, it is important to speak with a healthcare professional or genetic counselor to discuss testing options and potential treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS, to help diagnose and manage genetic disorders. 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 HCFC1 Gene Mental retardation, X-linked type 3 NGS Genetic DNA Test