GFER Gene Myopathy mitochondrial progressive with congenital cataract hearing loss and developmental delay Genetic Test
Genetic testing is an important tool in diagnosing and understanding genetic disorders. One such disorder is GFER Gene Myopathy mitochondrial progressive with congenital cataract hearing loss and developmental delay. This disorder affects the mitochondria, which are responsible for producing energy within cells. It is caused by mutations in the GFER gene.
Test Details
The GFER Gene Myopathy genetic test is a type of NGS (Next-Generation Sequencing) genetic testing. This advanced sequencing technology allows for the analysis of multiple genes simultaneously. In the case of GFER Gene Myopathy, the GFER gene is sequenced to identify any mutations or variations that may be causing the disorder.
The symptoms associated with GFER Gene Myopathy include progressive muscle weakness and wasting, congenital cataracts (clouding of the lenses of the eyes present at birth), hearing loss, and developmental delay. These symptoms can vary in severity and may appear at different ages.
By identifying mutations in the GFER gene, genetic testing can help confirm a diagnosis of GFER Gene Myopathy. This information is valuable for understanding the underlying cause of the disorder, predicting disease progression, and guiding treatment options.
Test Components and Price
The GFER Gene Myopathy genetic test is priced at 4400.0 AED. The test can be conducted using a blood sample, extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
The report for the GFER Gene Myopathy genetic test is typically delivered within 3 to 4 weeks. The test is conducted using NGS technology.
Test Department and Doctor
The GFER Gene Myopathy genetic test is conducted in the Genetics department. It is recommended to consult with a Neurologist for this test.
Pre Test Information
Prior to undergoing the GFER Gene Myopathy genetic test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by GFER Gene Myopathy.
It is crucial to consult with a healthcare professional or genetic counselor before undergoing any genetic testing procedure. They can provide specific information and guidance based on individual circumstances, as well as discuss the benefits, limitations, and implications of genetic testing.
| Test Name | GFER Gene Myopathy mitochondrial progressive with congenital cataract hearing loss and developmental delay Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
| Test Details |
GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay is a genetic disorder that affects the mitochondria, the energy-producing structures within cells. This disorder is caused by mutations in the GFER gene. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of GFER Gene Myopathy, NGS genetic testing would involve sequencing the GFER gene to identify any mutations or variations that may be causing the disorder. The symptoms associated with GFER Gene Myopathy include progressive muscle weakness and wasting, congenital cataracts (clouding of the lenses of the eyes present at birth), hearing loss, and developmental delay. These symptoms can vary in severity and may appear at different ages. Genetic testing, such as NGS, can help confirm a diagnosis of GFER Gene Myopathy by identifying mutations in the GFER gene. This information can be useful for understanding the underlying cause of the disorder, predicting the progression of the disease, and guiding treatment options. It is important to consult with a healthcare professional or genetic counselor to discuss the benefits, limitations, and implications of genetic testing before undergoing any testing procedure. They can provide more specific information and guidance based on individual circumstances. |
