Short Description

NGS genetic DNA test detecets for variant and mutation detection in DCX gene for Lissencephaly, X-linked type 1

PreTest Information

Clinical History of Patient who is going for DCX Gene Lissencephaly, X-linked type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DCX Gene Lissencephaly, X-linked type 1 NGS Genetic DNA Test gene DCX

Detail Description

DCX Gene Lissencephaly, X-linked type 1 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

DCX gene lissencephaly, X-linked type 1 is a rare genetic disorder that affects brain development. It is caused by mutations in the DCX gene, which provides instructions for making a protein called doublecortin. This protein is important for the migration of neurons in the brain during fetal development.

DCX gene lissencephaly, X-linked type 1 is inherited in an X-linked dominant pattern, which means that a mutation in only one copy of the gene is enough to cause the disorder in females, while males are usually more severely affected because they have only one X chromosome.

Symptoms of DCX Gene Lissencephaly, X-linked type 1

The symptoms of DCX gene lissencephaly, X-linked type 1 can vary from mild to severe and can include:

• Developmental delay
• Mental retardation
• Seizures
• Microcephaly
• Abnormal muscle tone
• Difficulty with coordination and movement
• Visual and hearing impairments
• Abnormal facial features

Diagnosis of DCX Gene Lissencephaly, X-linked type 1

Diagnosis of DCX gene lissencephaly, X-linked type 1 is based on a combination of clinical features, brain imaging, and genetic testing. Brain imaging can reveal a smooth brain surface (lissencephaly), which is a hallmark of the disorder. Genetic testing can confirm the diagnosis by identifying mutations in the DCX gene.

NGS Genetic DNA Test for DCX Gene Lissencephaly, X-linked type 1

Next-generation sequencing (NGS) is a powerful genetic testing technology that can detect mutations in the DCX gene. The NGS genetic DNA test for DCX gene lissencephaly, X-linked type 1 is a reliable and accurate way to diagnose the disorder. The cost of the NGS genetic DNA test for DCX gene lissencephaly, X-linked type 1 in India is approximately INR 20000.

Conclusion

DCX gene lissencephaly, X-linked type 1 is a rare genetic disorder that affects brain development. It can cause a range of symptoms, including developmental delay, mental retardation, seizures, and visual and hearing impairments. Diagnosis of the disorder is based on clinical features, brain imaging, and genetic testing. The NGS genetic DNA test for DCX gene lissencephaly, X-linked type 1 is a reliable and accurate way to diagnose the disorder, and it is available at a cost of approximately INR 20000 in India.

If you suspect that you or a loved one may have DCX gene lissencephaly, X-linked type 1, it is important to consult a qualified healthcare professional for diagnosis and treatment.