Short Description

NGS genetic DNA test detecets for variant and mutation detection in KNL1 gene for Microcephaly, autosomal recessive type 4

PreTest Information

Clinical History of Patient who is going for KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic DNA Test gene KNL1

Detail Description

KNL1 Gene Microcephaly: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Microcephaly is a rare neurological condition that affects infants and children. It is characterized by an abnormally small head size, which can lead to developmental delays and intellectual disabilities. One of the genetic causes of microcephaly is the KNL1 gene, which is associated with autosomal recessive type 4 microcephaly. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for KNL1 gene microcephaly.

What is KNL1 Gene Microcephaly?

KNL1 gene microcephaly is a rare genetic disorder that is caused by mutations in the KNL1 gene. This gene provides instructions for making a protein that is involved in the regulation of cell division. Mutations in the KNL1 gene can disrupt the normal cell division process, leading to abnormal brain development and microcephaly. Autosomal recessive type 4 microcephaly is one of the subtypes of microcephaly that is associated with KNL1 gene mutations.

Symptoms of KNL1 Gene Microcephaly

The symptoms of KNL1 gene microcephaly can vary from mild to severe, depending on the extent of brain damage. The most common symptom is an abnormally small head size, which is usually evident at birth or within the first few months of life. Other symptoms may include:

• Developmental delays
• Intellectual disabilities
• Seizures
• Difficulty with movement and coordination
• Speech and language delays
• Vision and hearing problems

Diagnosis of KNL1 Gene Microcephaly

Diagnosis of KNL1 gene microcephaly involves a combination of clinical evaluation, imaging tests, and genetic testing. A pediatrician or neurologist will conduct a physical exam to measure the head circumference and assess the developmental milestones. Imaging tests such as an MRI or CT scan may be ordered to evaluate the brain structure. Genetic testing can confirm the presence of KNL1 gene mutations.

NGS Genetic DNA Test Cost for KNL1 Gene Microcephaly

NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can analyze multiple genes simultaneously. It is a powerful tool for diagnosing genetic disorders such as KNL1 gene microcephaly. The cost of NGS genetic DNA testing for KNL1 gene microcephaly in India is approximately INR 20,000.

Conclusion

KNL1 gene microcephaly is a rare genetic disorder that can cause microcephaly and developmental delays. Early diagnosis is important for timely intervention and management. NGS genetic DNA testing is a reliable and cost-effective method for diagnosing KNL1 gene microcephaly. If you suspect that your child has symptoms of microcephaly, consult a pediatrician or neurologist for evaluation and testing.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for KNL1 gene microcephaly. Contact us today to schedule an appointment.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic DNA Test