Short Description

NGS genetic DNA test detecets for variant and mutation detection in FKBP14 gene for Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

PreTest Information

Clinical History of Patient who is going for FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic DNA Test gene FKBP14

Detail Description

FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Ehlers-Danlos Syndrome (EDS) is a group of genetic disorders that affect the connective tissues in the body. These tissues provide support to the skin, bones, blood vessels, and other organs. EDS can cause a range of symptoms, including hypermobility of the joints, skin that is easily bruised, and poor wound healing. There are several different types of EDS, each caused by a different genetic mutation.

One type of EDS is caused by a mutation in the FKBP14 gene. This type of EDS is characterized by progressive kyphoscoliosis (curvature of the spine), myopathy (muscle weakness), and hearing loss. If you or a loved one is experiencing these symptoms, it may be worth considering a genetic DNA test to determine if the cause is a mutation in the FKBP14 gene.

Symptoms of FKBP14 Gene Ehlers-Danlos Syndrome

As mentioned, the symptoms of FKBP14 Gene Ehlers-Danlos Syndrome include:

• Progressive kyphoscoliosis
• Myopathy
• Hearing loss

Other symptoms may include:

• Joint hypermobility
• Fragile skin that bruises easily
• Poor wound healing
• Thin skin that tears easily

If you or a loved one is experiencing any of these symptoms, it may be worth considering a genetic DNA test to determine if the cause is FKBP14 Gene Ehlers-Danlos Syndrome.

Diagnosing FKBP14 Gene Ehlers-Danlos Syndrome

Diagnosing FKBP14 Gene Ehlers-Danlos Syndrome involves a combination of physical examination, medical history, and genetic testing. Your doctor may perform a physical examination to look for signs of joint hypermobility, skin fragility, and poor wound healing. They may also ask about your medical history and family history.

If FKBP14 Gene Ehlers-Danlos Syndrome is suspected, your doctor may recommend genetic testing. This typically involves a blood sample or cheek swab, which is sent to a laboratory for analysis. The results of the genetic test can confirm or rule out a mutation in the FKBP14 gene.

NGS Genetic DNA Test Cost INR: 20000

The cost of an NGS genetic DNA test for FKBP14 Gene Ehlers-Danlos Syndrome is typically around INR 20000. This may vary depending on the specific laboratory and location. It is important to check with your insurance provider to determine if genetic testing is covered under your plan.

Conclusion

FKBP14 Gene Ehlers-Danlos Syndrome is a rare genetic disorder that can cause progressive kyphoscoliosis, myopathy, and hearing loss. If you or a loved one is experiencing these symptoms, it may be worth considering a genetic DNA test to determine if the cause is a mutation in the FKBP14 gene. The cost of an NGS genetic DNA test is typically around INR 20000, but it is important to check with your insurance provider to determine if genetic testing is covered under your plan.

Early diagnosis and treatment can help manage symptoms and improve quality of life for those with FKBP14 Gene Ehlers-Danlos Syndrome.

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 FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic DNA Test