Short Description

NGS genetic DNA test detecets for variant and mutation detection in GDF6 gene for Klippel-Feil syndrome type 1, autosomal dominant

PreTest Information

Clinical History of Patient who is going for GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic DNA Test gene GDF6

Detail Description

GDF6 Gene Klippel-Feil Syndrome Type 1: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Klippel-Feil Syndrome (KFS) is a rare genetic disorder that affects the development of bones in the spine, neck, and head. KFS is characterized by the fusion of two or more cervical vertebrae, which can lead to a limited range of motion, neck pain, and other complications.

There are three types of KFS, with type 1 being the most common and autosomal dominant. Type 1 KFS is caused by mutations in the GDF6 gene. This gene provides instructions for making a protein that is involved in the development of bones and joints.

Symptoms of GDF6 Gene Klippel-Feil Syndrome Type 1

The symptoms of GDF6 Gene Klippel-Feil Syndrome Type 1 can vary widely from person to person. Some of the common symptoms include:

• Fusion of two or more cervical vertebrae
• Short neck
• Low hairline at the back of the head
• Restricted neck movement
• Scoliosis
• Breathing difficulties
• Hearing loss
• Abnormalities of the kidneys, heart, or limbs

The severity of the symptoms can also vary depending on the number of vertebrae fused and the degree of fusion. In some cases, people with KFS may not experience any symptoms at all.

Diagnosis of GDF6 Gene Klippel-Feil Syndrome Type 1

Diagnosis of GDF6 Gene Klippel-Feil Syndrome Type 1 typically involves a physical examination, medical history, and imaging studies such as X-rays, CT scans, or MRI scans. Genetic testing may also be used to confirm the diagnosis.

NGS Genetic DNA testing is a type of genetic test that can identify mutations in the GDF6 gene. This test can help confirm a diagnosis of KFS and provide information about the inheritance pattern of the condition.

NGS Genetic DNA Test Cost in India

The cost of NGS Genetic DNA testing for GDF6 Gene Klippel-Feil Syndrome Type 1 in India can vary depending on the provider and location. On average, the cost of this test is around INR 20,000.

It is important to note that genetic testing is not always covered by insurance, so it is important to check with your provider before undergoing testing.

Conclusion

GDF6 Gene Klippel-Feil Syndrome Type 1 is a rare genetic disorder that can cause a range of symptoms, including the fusion of cervical vertebrae, short neck, and restricted neck movement. Diagnosis of KFS typically involves a physical examination, medical history, and imaging studies, along with genetic testing using NGS Genetic DNA testing. While the cost of this test can vary, it is an important tool for confirming a diagnosis and understanding the inheritance pattern of the condition.

If you or a loved one is experiencing symptoms of KFS, it is important to speak with a healthcare provider who can provide a proper diagnosis and treatment plan.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA testing for GDF6 Gene Klippel-Feil Syndrome Type 1. Contact us today to learn more about our services and how we can help.

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 GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic DNA Test