Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIF11 gene for Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR

PreTest Information

Clinical History of Patient who is going for KIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic DNA Test gene KIF11

Detail Description

KIF11 Gene Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation, MCLMR NGS Genetic DNA Test

Microcephaly is a rare genetic condition that affects the size of the head and brain. It is caused by mutations in a number of genes, including KIF11. KIF11 is a gene that encodes a protein called kinesin-5, which is involved in cell division.

Microcephaly can cause a range of symptoms, including intellectual disability, developmental delay, seizures, and vision problems. In some cases, it may also be associated with other conditions, such as chorioretinopathy, lymphedema, or mental retardation.

Diagnosing microcephaly can be challenging, as it is often detected during routine prenatal or postnatal screening. In some cases, it may be diagnosed later in life when symptoms become apparent. Genetic testing can help to confirm a diagnosis and identify the underlying cause of the condition.

MCLMR NGS Genetic DNA Test

The MCLMR NGS Genetic DNA test is a comprehensive genetic test that can identify mutations in the KIF11 gene and other genes associated with microcephaly. It uses next-generation sequencing (NGS) technology to analyze the entire coding region of the genome, allowing for the detection of even rare mutations.

The test is performed on a blood or saliva sample and typically takes 2-3 weeks to complete. Results are provided in a detailed report that includes information on any identified mutations and their potential clinical significance.

Cost of MCLMR NGS Genetic DNA Test

The cost of the MCLMR NGS Genetic DNA test in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or testing facility that performs the test.

Symptoms of Microcephaly

The symptoms of microcephaly can vary widely depending on the underlying cause and the severity of the condition. Some common symptoms include:

• Small head size
• Developmental delay
• Intellectual disability
• Seizures
• Abnormal facial features
• Vision problems
• Hearing loss

Diagnosing Microcephaly

Diagnosing microcephaly typically involves a combination of physical examination, medical history, and genetic testing. During a physical exam, a doctor will measure the circumference of the head and look for any other physical abnormalities.

If microcephaly is suspected, genetic testing may be recommended to identify any underlying mutations. This may include the MCLMR NGS Genetic DNA test or other targeted genetic tests.

Conclusion

The MCLMR NGS Genetic DNA test is a powerful tool for diagnosing microcephaly and identifying the underlying genetic mutations that cause the condition. If you or a loved one is experiencing symptoms of microcephaly, it is important to seek medical attention and consider genetic testing to help guide treatment and management.

At DNA Labs India, we offer a range of genetic testing services, including the MCLMR NGS Genetic DNA test, to help patients and families better understand their genetic health. Contact us today to learn more about our services and how we can help.