Short Description

NGS genetic DNA test detecets for variant and mutation detection in RBPJ gene for Adams-Oliver syndrome type 3

PreTest Information

Clinical History of Patient who is going for RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic DNA Test gene RBPJ

Detail Description

RBPJ Gene Adams-Oliver Syndrome Type 3 NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Adams-Oliver Syndrome (AOS) is a rare genetic disorder that affects the development of the limbs, scalp, and skull. The disorder is caused by mutations in several genes, including the RBPJ gene, which is responsible for encoding a protein that plays a crucial role in the development and differentiation of various cell types.

Adams-Oliver Syndrome Type 3 (AOS3) is a form of AOS that is caused by mutations in the RBPJ gene. The disorder is inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance of passing the mutated gene to their offspring.

Symptoms of AOS3

The symptoms of AOS3 can vary widely between affected individuals, but typically include:

• Malformations of the scalp and skull
• Defects in the development of the limbs, particularly the fingers and toes
• Heart abnormalities
• Developmental delays
• Cognitive impairment

Other features that may be present in some individuals with AOS3 include abnormal skin pigmentation, abnormalities of the eyes, ears, or nose, and other skeletal abnormalities.

Diagnosis of AOS3

Diagnosis of AOS3 typically involves a combination of physical examination, medical history, and genetic testing. A doctor may perform a thorough physical examination to look for characteristic signs of AOS3, such as scalp and limb malformations.

Genetic testing is the most reliable method for diagnosing AOS3. The RBPJ gene can be analyzed using Next-Generation Sequencing (NGS) technology, which enables the detection of mutations in the gene.

Cost of AOS3 NGS Genetic DNA Test

The cost of AOS3 NGS Genetic DNA Test in India is around INR 20,000. This test is available at several specialized DNA Labs in India that offer genetic testing services.

Conclusion

AOS3 is a rare genetic disorder that can cause significant developmental abnormalities. Early diagnosis and genetic testing can help affected individuals and their families understand the condition and make informed decisions about treatment and management. The cost of AOS3 NGS Genetic DNA Test in India is affordable and accessible at specialized DNA Labs.

For more information about genetic testing and DNA labs in India, please contact us at 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 RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic DNA Test