Short Description

NGS genetic DNA test detecets for variant and mutation detection in DISP1 gene for Craniofacial and neuro-developmental abnormalities

PreTest Information

Clinical History of Patient who is going for DISP1 Gene Craniofacial and neuro-developmental abnormalities NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DISP1 Gene Craniofacial and neuro-developmental abnormalities NGS Genetic DNA Test gene DISP1

Detail Description

DNA Labs India: DISP1 Gene Craniofacial and Neuro-developmental Abnormalities NGS Genetic DNA Test

DISP1 gene mutations have been linked to a number of craniofacial and neuro-developmental abnormalities. At DNA Labs India, we offer NGS genetic DNA testing for these mutations at a cost of INR 20,000.

Symptoms

The symptoms of DISP1 gene mutations can vary depending on the severity of the mutation. Some common symptoms include:

• Craniofacial abnormalities such as a small head or facial asymmetry
• Neuro-developmental abnormalities such as delayed development or intellectual disability
• Heart defects
• Abnormalities in the skeletal system
• Hearing loss

Diagnosis

Diagnosing DISP1 gene mutations can be done through genetic testing. At DNA Labs India, we use NGS genetic DNA testing to identify these mutations. This test involves sequencing the entire genome to identify any mutations in the DISP1 gene.

Cost

The cost of our NGS genetic DNA testing for DISP1 gene mutations is INR 20,000. This includes the cost of the test, as well as any counseling or support services that may be necessary.

Conclusion

If you or a loved one are experiencing symptoms of craniofacial or neuro-developmental abnormalities, it may be worth considering genetic testing for DISP1 gene mutations. At DNA Labs India, we offer NGS genetic DNA testing at an affordable cost to help provide answers and support for those affected by these mutations.

The DISP1 gene is associated with a disorder known as holoprosencephaly (HPE), which is a complex condition characterized by craniofacial and neurodevelopmental abnormalities. HPE occurs due to incomplete or abnormal separation of the developing brain and face during early fetal development.

Holoprosencephaly can range from mild to severe forms and can lead to a variety of facial malformations, cognitive impairments, and developmental delays. The DISP1 gene is one of several genes that have been identified as playing a role in the development of HPE.

An NGS (Next-Generation Sequencing) Genetic DNA Test involves sequencing a person's DNA to detect mutations or variations in specific genes. For disorders like holoprosencephaly, genetic testing can help identify mutations in genes like DISP1 that are associated with the condition.

If you suspect that you or someone you know might have holoprosencephaly or if there is a family history of the disorder, consulting with a medical geneticist or a genetic counselor is advisable. They can guide you through the process of genetic testing, explain the implications of the results, and provide information about the condition, management, and support resources. Keep in mind that genetic testing results are best interpreted in consultation with qualified healthcare professionals.