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Accurate Test Results for OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic DNA Test
OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic DNA Test Cost 20000 Rs
OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic DNA Test Details
OPHN1 Gene Mental Retardation, X-linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Mental retardation is a condition that affects a person's ability to learn and function in daily life. It can be caused by a variety of factors, including genetics. One gene that has been linked to mental retardation is the OPHN1 gene.
What is the OPHN1 Gene?
The OPHN1 gene is located on the X chromosome and provides instructions for making a protein called oligophrenin-1. This protein is important for the development and function of the brain, particularly the cerebellum.
When the OPHN1 gene is mutated, it can lead to a condition called X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. This condition primarily affects males and is characterized by intellectual disability, delayed speech and language development, and poor coordination.
Symptoms of X-linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance
The symptoms of X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance can vary in severity and may include:
- Intellectual disability
- Delayed speech and language development
- Poor coordination
- Distinctive facial features, including a small head, prominent forehead, and a wide mouth with downturned corners
- Cerebellar hypoplasia, which is a condition in which the cerebellum is underdeveloped
Diagnosis of X-linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is diagnosed through a combination of clinical evaluation, medical history, and genetic testing. Genetic testing, such as next-generation sequencing (NGS), can identify mutations in the OPHN1 gene that are associated with this condition.
NGS Genetic DNA Test Cost INR:20000
The cost of NGS genetic DNA testing for X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance at DNA Labs India is INR:20000. This test uses advanced sequencing technology to identify mutations in the OPHN1 gene and can provide an accurate diagnosis for individuals with this condition.
Conclusion
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is a rare genetic condition that can cause intellectual disability, delayed speech and language development, poor coordination, and distinctive facial features. Genetic testing, such as NGS, can help diagnose this condition and provide valuable information for patients and their families.
If you suspect that you or a loved one may have X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, it is important to talk to a healthcare professional and consider genetic testing to confirm a diagnosis.
DNA Labs India is a trusted provider of genetic testing services, including NGS genetic DNA testing for X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. Contact us today to learn more about our services and how we can help.
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 OPHN1 Gene Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance NGS Genetic DNA Test
