Short Description

NGS genetic DNA test detecets for variant and mutation detection in VLDLR gene for Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1

PreTest Information

Clinical History of Patient who is going for VLDLR Gene Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VLDLR Gene Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1

Detail Description

VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Cerebellar hypoplasia is a rare neurological disorder that affects the cerebellum, the part of the brain responsible for coordination, balance, and muscle tone. One of the genetic causes of cerebellar hypoplasia is mutations in the VLDLR gene, which encodes a protein that is important for brain development.

Individuals with mutations in the VLDLR gene may also have mental retardation and may exhibit a unique gait, often referred to as quadrupedal locomotion, where they walk on all fours.

Symptoms of VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1

The symptoms of VLDLR gene cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 can vary, but they often include:

• Delayed motor development
• Poor balance and coordination
• Difficulty with speech and language
• Intellectual disability
• Abnormal gait or quadrupedal locomotion
• Seizures
• Abnormal muscle tone
• Small head size (microcephaly)

Diagnosis of VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1

VLDLR gene cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can sequence the entire coding region of the VLDLR gene, allowing for the detection of mutations that may be causing the disorder.

In addition to genetic testing, diagnosis may also involve a physical exam, neurological evaluation, and imaging studies such as magnetic resonance imaging (MRI) to evaluate the structure of the brain.

NGS Genetic DNA Test Cost INR:20000

The cost of a Next-generation sequencing (NGS) genetic DNA test for VLDLR gene cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 can vary depending on the testing facility and geographic location. In India, the cost of this test is typically around INR:20000.

Conclusion

VLDLR gene cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 is a rare genetic disorder that affects brain development. Symptoms can include delayed motor development, poor balance and coordination, and intellectual disability. Diagnosis involves genetic testing, a physical exam, and imaging studies. The cost of a Next-generation sequencing (NGS) genetic DNA test for this disorder is typically around INR:20000 in India.

If you suspect that you or a loved one may have VLDLR gene cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1, it is important to speak with a healthcare professional to receive a proper diagnosis and appropriate treatment.

For more information about genetic testing and the diagnosis of rare genetic disorders, please contact DNA Labs India.

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 VLDLR Gene Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion type 1 NGS Genetic DNA Test