Short Description

NGS genetic DNA test detecets for variant and mutation detection in DOCK6 gene for Adams-Oliver syndrome type 2

PreTest Information

Clinical History of Patient who is going for DOCK6 Gene Adams-Oliver syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DOCK6 Gene Adams-Oliver syndrome type 2 NGS Genetic DNA Test gene DOCK6

Detail Description

DOCK6 Gene Adams-Oliver Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Adams-Oliver Syndrome (AOS) is a rare genetic disorder that affects multiple body parts. It is caused by mutations in the DOCK6 gene, which plays a crucial role in the development of the cardiovascular and nervous systems. AOS type 2 is one of the subtypes of AOS, which is characterized by scalp defects, limb anomalies, and cardiovascular malformations.

Symptoms of AOS Type 2

• Scalp defects: Partial or complete absence of the scalp, hairless patches, or skin lesions.
• Limb anomalies: Missing, extra, or fused fingers or toes, shortened limbs, or abnormal bone development.
• Cardiovascular malformations: Congenital heart defects, such as a hole in the heart, abnormal heart valves, or aortic aneurysms.
• Other features: Intellectual disability, seizures, and eye abnormalities.

Diagnosis of AOS Type 2

AOS type 2 is diagnosed based on clinical features and genetic testing. A physical examination can reveal the characteristic symptoms of AOS, such as scalp defects and limb anomalies. An echocardiogram can detect any cardiovascular malformations. Genetic testing is used to confirm the diagnosis and identify the specific mutation in the DOCK6 gene.

NGS Genetic DNA Test for AOS Type 2

Next-generation sequencing (NGS) is a powerful genetic testing technology that can analyze multiple genes simultaneously. The NGS genetic DNA test for AOS type 2 can detect mutations in the DOCK6 gene with high accuracy. This test can provide a definitive diagnosis for AOS type 2 and help identify carriers of the mutation in the family.

Cost of NGS Genetic DNA Test for AOS Type 2

The cost of the NGS genetic DNA test for AOS type 2 in India is approximately INR 20,000. This cost may vary depending on the testing laboratory and the specific tests included in the panel. Some insurance plans may cover the cost of genetic testing, so it is important to check with your provider.

Conclusion

Adams-Oliver Syndrome type 2 is a rare genetic disorder that can cause significant physical and developmental challenges. The DOCK6 gene mutation is responsible for this condition, and NGS genetic DNA testing can provide a definitive diagnosis. Although the cost of genetic testing can be a barrier, it is an essential tool for accurate diagnosis, early intervention, and family planning.

If you suspect that you or a family member may have AOS type 2, please consult with a genetic counselor or healthcare provider for further evaluation and testing.

At DNA Labs India, we offer comprehensive genetic testing services for a range of genetic disorders. Our team of experts can help you navigate the testing process and provide personalized support and guidance. Contact us today to learn more about our services.