Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIF1A gene for Mental retardation, autosomal dominant type 9

PreTest Information

Clinical History of Patient who is going for KIF1A Gene Mental retardation, autosomal dominant type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1A Gene Mental retardation, autosomal dominant type 9

Detail Description

KIF1A Gene Mental Retardation, Autosomal Dominant Type 9: NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

DNA Labs India provides a comprehensive genetic testing facility for various genetic disorders. In this blog, we will be discussing the KIF1A gene and its association with Mental Retardation, Autosomal Dominant Type 9. We will also talk about the symptoms, diagnosis, and cost of the NGS Genetic DNA Test.

What is the KIF1A Gene?

KIF1A is a gene that provides instructions for making a protein called Kinesin Family Member 1A. This protein plays a crucial role in the transportation of various components within the cells. It is particularly important in nerve cells, where it helps in the movement of vesicles containing neurotransmitters, which are essential for communication between nerve cells.

What is Mental Retardation, Autosomal Dominant Type 9?

Mental Retardation, Autosomal Dominant Type 9 (MRD9) is a rare genetic disorder that affects the brain's development and function. It is caused by mutations in the KIF1A gene, which disrupts the transport of various components in nerve cells, leading to abnormal brain development and function.

MRD9 is characterized by intellectual disability, delayed speech and language development, poor muscle tone, and problems with coordination and movement. Other symptoms may include seizures, vision problems, and abnormal curvature of the spine.

Diagnosis of MRD9

The diagnosis of MRD9 involves a clinical evaluation, genetic testing, and imaging studies. A clinical evaluation involves a comprehensive physical and neurological examination to assess the patient's developmental milestones, muscle tone, and coordination.

Genetic testing involves analyzing the patient's DNA to identify mutations in the KIF1A gene. This can be done using various techniques, including Next-Generation Sequencing (NGS) and Sanger sequencing.

Imaging studies, such as magnetic resonance imaging (MRI), may be performed to assess the brain's structure and function.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for MRD9 at DNA Labs India is INR 20000. This test is performed using advanced sequencing technologies to analyze the patient's DNA and identify mutations in the KIF1A gene.

The NGS Genetic DNA Test is a highly accurate and efficient method for diagnosing MRD9, and it provides valuable information for developing personalized treatment plans.

Conclusion

MRD9 is a rare genetic disorder caused by mutations in the KIF1A gene, which affects the brain's development and function. The diagnosis of MRD9 involves a clinical evaluation, genetic testing, and imaging studies. The NGS Genetic DNA Test for MRD9 is available at DNA Labs India at an affordable cost of INR 20000. This test provides valuable information for developing personalized treatment plans and improving the patient's quality of life.

If you suspect that you or someone you know may have MRD9, it is essential to seek medical attention and undergo genetic testing to receive an accurate diagnosis and appropriate treatment.

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 KIF1A Gene Mental retardation, autosomal dominant type 9 NGS Genetic DNA Test