Short Description

NGS genetic DNA test detecets for variant and mutation detection in MEOX1 gene for Klippel-Feil syndrome type 2, autosomal dominant

PreTest Information

Clinical History of Patient who is going for MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant NGS Genetic DNA Test gene MEOX1

Detail Description

MEOX1 Gene Klippel-Feil Syndrome Type 2: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Klippel-Feil Syndrome Type 2 is a rare genetic disorder that affects the development of the spinal column. This syndrome is caused by mutations in the MEOX1 gene, which is responsible for controlling the development of the spine during embryonic development. This disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the disorder.

Symptoms of Klippel-Feil Syndrome Type 2

The symptoms of Klippel-Feil Syndrome Type 2 can vary in severity and can affect different areas of the body. Some common symptoms include:

• Short neck
• Abnormal curvature of the spine (scoliosis)
• Low-set ears
• Facial abnormalities
• Difficulty moving the head and neck
• Heart defects
• Kidney abnormalities

Diagnosis of Klippel-Feil Syndrome Type 2

Diagnosis of Klippel-Feil Syndrome Type 2 can be difficult, as symptoms can vary widely and there is no single definitive test. Diagnosis is typically made through a combination of physical examination, medical history, and genetic testing. Imaging tests such as X-rays, MRIs, and CT scans may also be used to help diagnose the disorder.

NGS Genetic DNA Test Cost

NGS (Next-Generation Sequencing) genetic testing is a powerful tool for identifying genetic mutations that may cause Klippel-Feil Syndrome Type 2. This test analyzes a person's DNA to identify any mutations in the MEOX1 gene that may be causing the disorder. The cost of this test in India can vary depending on the provider, but the average cost is around INR 20,000.

Conclusion

Klippel-Feil Syndrome Type 2 is a rare genetic disorder that can cause a wide range of symptoms. Diagnosis can be difficult, but genetic testing can help identify the specific mutations that are causing the disorder. If you or a loved one are experiencing symptoms of Klippel-Feil Syndrome Type 2, it is important to consult with a qualified healthcare provider to receive an accurate diagnosis and appropriate treatment.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic testing for Klippel-Feil Syndrome Type 2. Our team of experienced genetic counselors and scientists are committed to providing accurate and reliable testing services to help individuals and families better understand their genetic risks and make informed healthcare decisions.

Contact us today to learn more about our genetic testing services and how we can help you.