ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test
Genetic testing plays a crucial role in identifying and diagnosing various genetic disorders. One such test is the ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test, offered by DNA Labs UAE. This blog will provide detailed information about the test, its components, cost, symptoms, diagnosis, and more.
Test Details
The ELOVL4 gene is associated with several genetic disorders, including Ichthyosis, spastic quadriplegia, and mental retardation. The Next-Generation Sequencing (NGS) technology is used to analyze the ELOVL4 gene and identify any mutations or variants that may be present.
Ichthyosis is a group of genetic skin disorders characterized by dry, scaly skin. Mutations in the ELOVL4 gene can cause a specific type of Ichthyosis called Ichthyosis, spastic quadriplegia, and mental retardation syndrome (ISQMR). This condition is characterized by severe skin abnormalities (ichthyosis), spastic quadriplegia (muscle stiffness and weakness affecting all four limbs), and intellectual disability.
The ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test involves sequencing the entire ELOVL4 gene to identify any changes or mutations that may be present. This can help confirm a diagnosis of ISQMR or other related disorders. Additionally, it can provide information about the specific mutation present, which can be useful for genetic counseling and family planning.
Test Components and Price
The cost of the ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test is AED 4400.0. The test can be performed using a blood sample, extracted DNA, or one drop of blood on an FTA card.
Report Delivery and Method
The report for the ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test is typically delivered within 3 to 4 weeks. The test utilizes NGS technology for accurate and comprehensive analysis.
Test Type and Doctor
The ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test falls under the categories of Osteology, Dermatology, and Immunology Disorders. It is recommended to consult with a Dermatologist for this test.
Test Department and Pre-Test Information
The ELOVL4 Gene Ichthyosis Spastic Quadriplegia and Mental Retardation Genetic Test is conducted in the Genetics department. Before undergoing the test, it is essential to provide the clinical history of the patient and attend a Genetic Counselling session. The session helps in drawing a pedigree chart of family members affected with ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation NGS Genetic DNA Test gene ELOVL4.
Conclusion
If you suspect that you or someone you know may have Ichthyosis, spastic quadriplegia, and mental retardation syndrome or another related disorder, it is recommended to consult with a healthcare professional or genetic specialist who can guide you through the process of genetic testing and provide appropriate support and management options.
| Test Name | ELOVL4 Gene Ichthyosis spastic quadriplegia and mental retardation 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 ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ELOVL4 Gene Ichthyosis, spastic quadriplegia, and mental retardation NGS Genetic DNA Test gene ELOVL4 |
| Test Details |
ELOVL4 gene is associated with several genetic disorders, including Ichthyosis, spastic quadriplegia, and mental retardation. Next-Generation Sequencing (NGS) genetic testing can be used to analyze the ELOVL4 gene and identify any mutations or variants that may be present. Ichthyosis is a group of genetic skin disorders characterized by dry, scaly skin. Mutations in the ELOVL4 gene can cause a specific type of Ichthyosis called Ichthyosis, spastic quadriplegia, and mental retardation syndrome (ISQMR). This condition is characterized by the combination of severe skin abnormalities (ichthyosis), spastic quadriplegia (muscle stiffness and weakness affecting all four limbs), and intellectual disability. NGS genetic testing involves sequencing the entire ELOVL4 gene to identify any changes or mutations that may be present. This can help in confirming a diagnosis of ISQMR or other related disorders. It can also provide information about the specific mutation present, which can be useful for genetic counseling and family planning. Genetic testing can be performed using a blood or saliva sample, and the results are typically interpreted by genetic specialists or genetic counselors. It is important to note that genetic testing may not always provide a definitive diagnosis, as some mutations may be of uncertain significance or other genetic factors may be involved. If you suspect that you or someone you know may have Ichthyosis, spastic quadriplegia, and mental retardation syndrome or another related disorder, it is recommended to consult with a healthcare professional or genetic specialist who can guide you through the process of genetic testing and provide appropriate support and management options. |
