Short Description

NGS genetic DNA test detecets for variant and mutation detection in ROR2 gene for Robinow syndrome, autosomal recessive

PreTest Information

Clinical History of Patient who is going for ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic DNA Test gene ROR2

Detail Description

ROR2 Gene and Robinow Syndrome: Understanding the Symptoms, Diagnosis, and Cost of NGS Genetic DNA Test

Robinow Syndrome is a rare genetic disorder that affects the skeletal system and other parts of the body. It is caused by mutations in the ROR2 gene, which provides instructions for making a protein that is essential for the development of bones and other tissues.

Robinow Syndrome is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated ROR2 gene – one from each parent – to develop the condition. Individuals with only one copy of the mutated gene are carriers but do not have the syndrome.

Symptoms of Robinow Syndrome

The symptoms of Robinow Syndrome can vary widely from person to person, even among members of the same family. However, some common features include:

• Short stature
• Abnormal facial features, such as a small head, a broad forehead, and a flat nasal bridge
• Short fingers and toes
• Spinal abnormalities, including scoliosis and kyphosis
• Genital abnormalities, such as undescended testes in males
• Intellectual disability

Other features may include heart defects, vision and hearing problems, and abnormalities of the kidneys and liver.

Diagnosis of Robinow Syndrome

Diagnosis of Robinow Syndrome typically involves a thorough physical examination and a review of the patient's medical history. Genetic testing may be recommended to confirm the diagnosis and identify the specific ROR2 gene mutation responsible for the condition.

Next-generation sequencing (NGS) genetic DNA testing is one of the most advanced and accurate methods for identifying genetic mutations associated with Robinow Syndrome. This test can detect mutations in multiple genes at once, making it a valuable tool for identifying rare genetic disorders.

Cost of NGS Genetic DNA Test for Robinow Syndrome

The cost of NGS genetic DNA testing for Robinow Syndrome can vary depending on the specific laboratory and testing method used. However, in India, the cost is typically around INR 20,000.

It is important to note that while genetic testing can provide valuable information about a patient's condition, it is not a substitute for clinical evaluation and diagnosis by a qualified healthcare provider.

Conclusion

Robinow Syndrome is a rare genetic disorder caused by mutations in the ROR2 gene. It can cause a wide range of symptoms, including short stature, abnormal facial features, and intellectual disability. Diagnosis typically involves a thorough physical examination and genetic testing, such as NGS genetic DNA testing. While the cost of this testing can vary, it is a valuable tool for identifying rare genetic disorders and providing patients with the information they need to manage their condition effectively.

If you suspect that you or a loved one may have Robinow Syndrome, it is important to speak with a qualified healthcare provider for an accurate diagnosis and treatment plan.

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 ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic DNA Test