Short Description

NGS genetic DNA test detecets for variant and mutation detection in JAG2 gene for Craniofacial and neuro-developmental abnormalities, JAG2 related

PreTest Information

Clinical History of Patient who is going for JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic DNA Test gene JAG2

Detail Description

JAG2 Gene Craniofacial and Neuro-developmental Abnormalities: Understanding the Role of JAG2 Related NGS Genetic DNA Test

Genetic testing has played a significant role in identifying the underlying causes of various diseases and disorders. One such disorder is craniofacial and neuro-developmental abnormalities, which are caused due to mutations in the JAG2 gene. The JAG2 gene is responsible for the development of various organs and tissues in the body. Mutations in this gene can lead to several developmental disorders. In this blog, we will discuss the role of the JAG2 gene in craniofacial and neuro-developmental abnormalities and how JAG2 related NGS genetic DNA test can help in the diagnosis of this disorder.

Understanding Craniofacial and Neuro-developmental Abnormalities

Craniofacial abnormalities refer to the malformation of the head and face. These abnormalities can affect the shape, size, and position of the skull, face, and jaw. Neuro-developmental abnormalities, on the other hand, refer to the malformation of the brain and nervous system. These abnormalities can affect the cognitive, motor, and sensory functions of the body.

The causes of craniofacial and neuro-developmental abnormalities are varied and can be genetic or environmental. Genetic mutations are responsible for around 50% of cases of craniofacial and neuro-developmental abnormalities. Mutations in the JAG2 gene are one of the genetic causes of this disorder.

The Role of JAG2 Gene in Craniofacial and Neuro-developmental Abnormalities

The JAG2 gene is located on chromosome 14 and is responsible for encoding a protein called Jagged2. This protein plays a crucial role in the development of various organs and tissues in the body, including the brain, heart, and lungs.

Mutations in the JAG2 gene can lead to various developmental disorders, including craniofacial and neuro-developmental abnormalities. These mutations can affect the development of the skull, face, and brain, leading to malformations and abnormalities.

JAG2 Related NGS Genetic DNA Test

The JAG2 related NGS genetic DNA test is a diagnostic test that can help identify mutations in the JAG2 gene. This test uses next-generation sequencing (NGS) technology to analyze the entire JAG2 gene and identify any mutations present.

The JAG2 related NGS genetic DNA test can help in the diagnosis of craniofacial and neuro-developmental abnormalities caused by mutations in the JAG2 gene. The test can also help in identifying carriers of the mutation, which can be useful in family planning and genetic counseling.

Symptoms of Craniofacial and Neuro-developmental Abnormalities

The symptoms of craniofacial and neuro-developmental abnormalities can vary depending on the severity of the malformations. Some common symptoms include:

• Abnormal head shape and size
• Facial asymmetry
• Cleft palate
• Delayed development
• Intellectual disability
• Speech and language delays
• Seizures

Diagnosis of Craniofacial and Neuro-developmental Abnormalities

The diagnosis of craniofacial and neuro-developmental abnormalities usually involves a combination of physical examination, medical history, and imaging tests. Genetic testing, including the JAG2 related NGS genetic DNA test, can also be used to confirm a diagnosis.

Cost of JAG2 Related NGS Genetic DNA Test

The cost of the JAG2 related NGS genetic DNA test can vary depending on the laboratory and location. In India, the cost of this test is around INR 20,000.

Conclusion

Craniofacial and neuro-developmental abnormalities are complex disorders that can have significant impacts on a person's life. Understanding the role of the JAG2 gene in these abnormalities and using diagnostic tools such as the JAG2 related NGS genetic DNA test can help in the diagnosis and management of this disorder.

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 JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic DNA Test