Short Description

NGS genetic DNA test detecets for variant and mutation detection in FRAS1 gene for Fraser syndrome

PreTest Information

Clinical History of Patient who is going for FRAS1 Gene Fraser syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FRAS1 Gene Fraser syndrome NGS Genetic DNA Test gene FRAS1

Detail Description

FRAS1 Gene and Fraser Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Fraser syndrome is a rare genetic disorder that affects multiple organs and systems in the body. It is caused by mutations in the FRAS1 gene, which provides instructions for making a protein that is essential for the development of various tissues and organs during embryonic development.

Fraser syndrome can cause a range of physical abnormalities, including malformations of the eyes, ears, nose, throat, and limbs. It can also affect the kidneys, lungs, and other organs. The severity of the symptoms can vary widely, even among people with the same genetic mutation.

Symptoms of Fraser Syndrome

The symptoms of Fraser syndrome can include:

• Malformations of the eyes, such as missing or underdeveloped eyelids, cataracts, or glaucoma
• Malformations of the ears, such as abnormal shape or position, or hearing loss
• Malformations of the nose and throat, such as cleft palate or lip, or difficulty swallowing or breathing
• Malformations of the limbs, such as missing fingers or toes, or abnormal positioning or fusion of bones
• Renal abnormalities, such as cysts or malformations of the kidneys
• Pulmonary abnormalities, such as abnormal lung lobes or breathing difficulties

Some people with Fraser syndrome may also have developmental delays, intellectual disabilities, or behavioral problems.

Diagnosis of Fraser Syndrome

Fraser syndrome is usually diagnosed based on the presence of physical abnormalities that are characteristic of the disorder. Genetic testing can confirm the presence of mutations in the FRAS1 gene.

Diagnostic tests for Fraser syndrome may include:

• Physical examination to look for characteristic physical features
• Imaging tests, such as X-rays or ultrasounds, to evaluate organ abnormalities
• Hearing and vision tests to evaluate auditory and visual abnormalities
• Genetic testing to identify mutations in the FRAS1 gene

NGS Genetic DNA Test Cost in India

NGS (Next Generation Sequencing) genetic DNA testing is a method of sequencing DNA that can identify mutations in multiple genes at once. This type of testing can be used to diagnose genetic disorders such as Fraser syndrome.

In India, the cost of NGS genetic DNA testing for Fraser syndrome can vary depending on the laboratory and the specific tests that are ordered. On average, the cost of NGS genetic DNA testing for Fraser syndrome in India is around INR 20,000.

Conclusion

Fraser syndrome is a rare genetic disorder that can cause a range of physical abnormalities, including malformations of the eyes, ears, nose, throat, and limbs. Diagnosis is usually based on the presence of characteristic physical features and genetic testing. NGS genetic DNA testing can be used to confirm the diagnosis of Fraser syndrome. The cost of NGS genetic DNA testing for Fraser syndrome in India is around INR 20,000.

If you or a loved one is experiencing symptoms of Fraser syndrome, it is important to speak with a healthcare professional to receive an accurate diagnosis and appropriate treatment.

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 FRAS1 Gene Fraser syndrome NGS Genetic DNA Test