Short Description

NGS genetic DNA test detecets for variant and mutation detection in DOK7 gene for Fetal akinesia deformation sequence

PreTest Information

Clinical History of Patient who is going for DOK7 Gene Fetal akinesia deformation sequence NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DOK7 Gene Fetal akinesia deformation sequence NGS Genetic DNA Test gene DOK7

Detail Description

DOK7 Gene Fetal Akinesia Deformation Sequence NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Do you suspect that your child may have Fetal Akinesia Deformation Sequence (FADS)? This rare genetic disorder affects the movement of the developing fetus and can cause a range of physical deformities. One of the genetic mutations associated with FADS is the DOK7 gene, which can now be tested using Next Generation Sequencing (NGS) technology. In this blog, we will discuss the symptoms of FADS, how it is diagnosed, and the cost of the DOK7 gene NGS test.

Symptoms of Fetal Akinesia Deformation Sequence

FADS can present with a wide range of symptoms, depending on the severity of the condition. Some of the common symptoms include:

• Decreased fetal movement
• Joint contractures (stiff, immovable joints)
• Underdeveloped muscles
• Respiratory distress
• Scoliosis (curvature of the spine)
• Cleft palate

If you notice any of these symptoms during pregnancy, it is important to consult with a doctor right away.

Diagnosing Fetal Akinesia Deformation Sequence

Diagnosing FADS can be challenging, as it is a rare condition and can present with varying degrees of severity. Doctors may use a combination of ultrasound imaging, genetic testing, and physical examination to make a diagnosis. If FADS is suspected, genetic testing can be used to confirm the diagnosis and identify the specific genetic mutation responsible for the condition.

DOK7 Gene NGS Test

The DOK7 gene is one of the genes associated with FADS. Mutations in this gene can lead to decreased muscle movement and other physical deformities. NGS technology allows for the rapid and accurate sequencing of the DOK7 gene, making it easier to identify mutations that may be responsible for FADS.

The cost of the DOK7 gene NGS test at DNA Labs India is INR 20,000. This test is recommended for individuals who have a family history of FADS or who have been diagnosed with symptoms of the condition.

Conclusion

Fetal Akinesia Deformation Sequence is a rare genetic disorder that can cause a range of physical deformities. The DOK7 gene NGS test is a useful tool for identifying mutations that may be responsible for FADS. If you suspect that your child may have FADS, it is important to consult with a doctor right away and consider genetic testing to confirm the diagnosis.

For more information on the DOK7 gene NGS test or other genetic testing services, contact DNA Labs India today.