FKBP14 Gene Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis Myopathy and Hearing Loss
Genetic testing is an important tool in diagnosing and managing rare genetic disorders. One such disorder is Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, which is associated with the FKBP14 gene.
Test Details
The FKBP14 gene is responsible for this rare genetic disorder. It is characterized by the following features:
- Ehlers-Danlos syndrome (EDS): EDS is a group of genetic connective tissue disorders that affect collagen in the body. Symptoms may include joint hypermobility, skin hyperextensibility, and tissue fragility.
- Progressive kyphoscoliosis: This refers to an abnormal curvature of the spine that worsens over time. It can cause a hunched posture and respiratory complications.
- Myopathy: Myopathy is muscle weakness or disease. In this syndrome, it is characterized by muscle weakness and wasting, leading to reduced muscle strength and function.
- Hearing loss: Sensorineural hearing loss may occur due to abnormalities in the inner ear or auditory nerve pathways.
Genetic Testing
NGS technology, or Next-Generation Sequencing, is used for this genetic test. It allows for the analysis of multiple genes simultaneously to identify mutations or variations associated with Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Test Components and Price
The cost of the FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss Genetic Test is AED 4400.0. The test can be performed using blood or extracted DNA, or even one drop of blood on an FTA card.
Report Delivery and Method
After the test is conducted, the report will be delivered within 3 to 4 weeks. The method used for this genetic test is NGS technology.
Test Department and Doctor
This genetic test falls under the Genetics department, and it is recommended to consult with a Dermatologist for this specific syndrome.
Pre Test Information
Before undergoing the FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session is recommended to draw a pedigree chart of family members affected by this syndrome.
Conclusion
The FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Genetic Test is crucial in diagnosing and managing this rare genetic disorder. It can provide a confirmed diagnosis, information about disease progression, and guidance for treatment and management strategies. Additionally, it aids in genetic counseling and family planning for affected individuals and their families.
| Test Name | FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The FKBP14 gene is associated with a rare genetic disorder called Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. This syndrome is characterized by the following features: 1. Ehlers-Danlos syndrome (EDS): EDS is a group of genetic connective tissue disorders that affect the structure and function of collagen in the body. This can lead to various symptoms, including joint hypermobility, skin hyperextensibility, and tissue fragility. 2. Progressive kyphoscoliosis: This refers to the abnormal curvature of the spine, which can worsen over time. It can result in a hunched or stooped posture and can cause respiratory and other complications. 3. Myopathy: Myopathy refers to muscle weakness or disease. In this syndrome, it is characterized by muscle weakness and wasting, leading to reduced muscle strength and function. 4. Hearing loss: Individuals with this syndrome may experience sensorineural hearing loss, which is caused by abnormalities in the inner ear or the auditory nerve pathways. NGS genetic testing, or Next-Generation Sequencing genetic testing, is a type of genetic test that can analyze multiple genes simultaneously to identify any mutations or variations that may be associated with a particular condition. In the case of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, NGS genetic testing can be used to identify mutations in the FKBP14 gene, which is the causative gene for this specific syndrome. This genetic testing can help confirm a diagnosis, provide information about disease progression, and guide treatment and management strategies for individuals with this syndrome. It can also help with genetic counseling and family planning for affected individuals and their families. |
