FGF3 Gene Deafness congenital with inner ear agenesis microtia and microdontia Genetic Test
Test Name: FGF3 Gene Deafness congenital with inner ear agenesis microtia and microdontia 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: Ear Nose Throat Disorders
Doctor: ENT Doctor
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test gene IARS13
Test Details
The FGF3 gene is responsible for providing instructions for making a protein called fibroblast growth factor 3. Mutations in this gene can cause a rare genetic disorder known as deafness, congenital with inner ear agenesis, microtia, and microdontia.
This disorder is characterized by several abnormalities, including:
- Deafness: Individuals with this condition are born with severe to profound hearing loss or complete deafness. The inner ear, which is responsible for transmitting sound signals to the brain, is underdeveloped or absent.
- Inner ear agenesis: Agenesis refers to the absence or incomplete development of a body part. In this case, it refers to the underdevelopment or absence of the inner ear structures, including the cochlea, vestibule, and semicircular canals.
- Microtia: Microtia is a condition where the external ear (pinna) is underdeveloped or malformed. It can range from mild abnormalities to a complete absence of the external ear.
- Microdontia: Microdontia refers to the abnormal smallness of teeth. In individuals with this condition, the teeth may be smaller than usual, misshapen, or have other dental abnormalities.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic analysis that can be used to identify mutations or changes in the DNA sequence of the FGF3 gene. This test involves sequencing the entire coding region of the gene to detect any alterations that may be responsible for the disorder.
By identifying the specific genetic mutation causing deafness, congenital inner ear agenesis, microtia, and microdontia, NGS genetic testing can help confirm a diagnosis, provide information about the inheritance pattern, and offer genetic counseling to affected individuals and their families.
Test Name | FGF3 Gene Deafness congenital with inner ear agenesis microtia and microdontia 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 | Ear Nose Throat Disorders |
Doctor | ENT Doctor |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic DNA Test gene IARS13 |
Test Details |
The FGF3 gene is responsible for providing instructions for making a protein called fibroblast growth factor 3. Mutations in this gene can cause a rare genetic disorder known as deafness, congenital with inner ear agenesis, microtia, and microdontia. This disorder is characterized by several abnormalities, including: 1. Deafness: Individuals with this condition are born with severe to profound hearing loss or complete deafness. The inner ear, which is responsible for transmitting sound signals to the brain, is underdeveloped or absent. 2. Inner ear agenesis: Agenesis refers to the absence or incomplete development of a body part. In this case, it refers to the underdevelopment or absence of the inner ear structures, including the cochlea, vestibule, and semicircular canals. 3. Microtia: Microtia is a condition where the external ear (pinna) is underdeveloped or malformed. It can range from mild abnormalities to a complete absence of the external ear. 4. Microdontia: Microdontia refers to the abnormal smallness of teeth. In individuals with this condition, the teeth may be smaller than usual, misshapen, or have other dental abnormalities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic analysis that can be used to identify mutations or changes in the DNA sequence of the FGF3 gene. This test involves sequencing the entire coding region of the gene to detect any alterations that may be responsible for the disorder. By identifying the specific genetic mutation causing deafness, congenital inner ear agenesis, microtia, and microdontia, NGS genetic testing can help confirm a diagnosis, provide information about the inheritance pattern, and offer genetic counseling to affected individuals and their families. |