Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIF7 gene for Acrocallosal syndrome

PreTest Information

Clinical History of Patient who is going for KIF7 Gene Acrocallosal syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KIF7 Gene Acrocallosal syndrome

Detail Description

Understanding KIF7 Gene and Acrocallosal Syndrome: NGS Genetic DNA Test Cost INR 20,000

Acrocallosal syndrome (ACLS) is a rare genetic disorder that affects the development of the brain, skull, and limbs. The syndrome is caused by mutations in the KIF7 gene, which provides instructions to make a protein that is crucial for the normal development of the body.

The KIF7 gene is located on the long arm of chromosome 15. Mutations in this gene can disrupt the development of the brain, skull, and limbs, leading to the characteristic features of Acrocallosal syndrome.

Symptoms of Acrocallosal Syndrome

Acrocallosal syndrome is characterized by a range of physical and intellectual disabilities. The severity of the symptoms can vary widely, even among individuals with the same mutation in the KIF7 gene. Some of the common symptoms of Acrocallosal syndrome include:

• Abnormal head shape and size
• Facial abnormalities, such as a small head or low hairline
• Webbed or fused fingers and toes
• Abnormalities of the brain, such as absence or underdevelopment of the corpus callosum
• Intellectual disability and developmental delays
• Vision and hearing problems

Diagnosis of Acrocallosal Syndrome

Diagnosis of Acrocallosal syndrome typically involves a physical examination, medical history, and genetic testing. The physical examination may reveal characteristic features of the syndrome, such as a small head or webbed fingers and toes. Medical imaging, such as an MRI or CT scan, can help detect abnormalities of the brain and skull.

Genetic testing is the most reliable way to diagnose Acrocallosal syndrome. A genetic test can detect mutations in the KIF7 gene that are responsible for the syndrome. Next-generation sequencing (NGS) is a powerful genetic testing technique that can analyze multiple genes simultaneously, making it an efficient and cost-effective way to diagnose rare genetic disorders like Acrocallosal syndrome.

NGS Genetic DNA Test Cost INR 20,000

DNA Labs India offers a comprehensive NGS genetic DNA test for Acrocallosal syndrome at an affordable cost of INR 20,000. The test analyzes the KIF7 gene and other genes associated with developmental disorders to provide a comprehensive diagnosis.

NGS genetic DNA testing is a non-invasive procedure that involves collecting a small sample of blood or saliva from the patient. The sample is then sent to our state-of-the-art laboratory for analysis. Our team of expert geneticists and bioinformaticians use advanced sequencing and analysis techniques to identify mutations in the KIF7 gene and other relevant genes.

Conclusion

Acrocallosal syndrome is a rare genetic disorder that can cause a range of physical and intellectual disabilities. Genetic testing is the most reliable way to diagnose the syndrome and provide appropriate treatment and support. DNA Labs India offers a comprehensive NGS genetic DNA test for Acrocallosal syndrome at an affordable cost of INR 20,000. Our state-of-the-art laboratory and team of expert geneticists and bioinformaticians ensure accurate and timely diagnosis for our patients.

Contact DNA Labs India today to schedule your NGS genetic DNA test for Acrocallosal syndrome.

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 KIF7 Gene Acrocallosal syndrome NGS Genetic DNA Test