Short Description

NGS genetic DNA test detecets for variant and mutation detection in CDK6 gene for Microcephaly, autosomal recessive type 12

PreTest Information

Clinical History of Patient who is going for CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic DNA Test gene CDK6

Detail Description

DNA Labs India: CDK6 Gene Microcephaly, Autosomal Recessive Type 12 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Microcephaly is a neurological condition characterized by an abnormally small head circumference. Autosomal recessive type 12 microcephaly is a rare genetic disorder caused by mutations in the CDK6 gene. This gene provides instructions for making a protein that regulates the cell cycle, the process by which cells grow and divide.

CDK6 gene mutations disrupt the normal function of this protein, leading to abnormal cell growth and division, which can cause microcephaly. This condition is inherited in an autosomal recessive pattern, meaning that an affected individual inherits two copies of the mutated gene, one from each parent.

Symptoms of Autosomal Recessive Type 12 Microcephaly

The most common symptom of autosomal recessive type 12 microcephaly is an abnormally small head circumference. Other symptoms may include:

• Intellectual disability
• Delayed development
• Seizures
• Hyperactivity
• Abnormal muscle tone
• Abnormal eye movements

Diagnosis of Autosomal Recessive Type 12 Microcephaly

Diagnosis of autosomal recessive type 12 microcephaly typically involves a physical exam and genetic testing. A doctor may measure the head circumference of the affected individual and perform a neurological exam to assess developmental delays and other symptoms.

Genetic testing, specifically next-generation sequencing (NGS) of the CDK6 gene, can confirm a diagnosis of autosomal recessive type 12 microcephaly. This test identifies mutations in the CDK6 gene that may cause the condition.

CDK6 Gene Microcephaly NGS Genetic DNA Test Cost

The cost of CDK6 gene microcephaly NGS genetic DNA testing in India is typically around INR 20,000. This cost may vary depending on the specific testing provider and any additional tests or services required.

Conclusion

Autosomal recessive type 12 microcephaly is a rare genetic disorder caused by mutations in the CDK6 gene. This condition can cause an abnormally small head circumference, delayed development, and other symptoms. Diagnosis typically involves a physical exam and genetic testing, such as NGS of the CDK6 gene. DNA Labs India offers CDK6 gene microcephaly NGS genetic DNA testing for INR 20,000.

It is important to seek medical attention if you or a loved one exhibits symptoms of autosomal recessive type 12 microcephaly. Early diagnosis and treatment can improve outcomes and quality of life for affected individuals.

For more information on CDK6 gene microcephaly NGS genetic DNA testing or other genetic testing services, please contact DNA Labs India.