QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test
Test Name: QARS1 Gene Microcephaly Progressive Seizures and Cerebral and Cerebellar Atrophy Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Dysmorphology
Doctor: Pediatrics
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test gene QARS1
Test Details
The QARS1 gene is associated with a rare genetic disorder called Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Syndrome. This syndrome is characterized by microcephaly (abnormally small head size), progressive cerebral and cerebellar atrophy (degeneration of brain tissue), and seizures. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations or variations in the QARS1 gene that may be responsible for this syndrome. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire exome (the protein-coding regions of the genome). This can help in identifying specific genetic changes that may be causing the disorder. Genetic testing can be helpful in confirming a diagnosis, providing information about the prognosis, and guiding treatment options. It can also be beneficial for family planning and genetic counseling purposes. It is important to note that the information provided here is a general overview, and a healthcare professional or genetic counselor should be consulted for a more personalized and accurate assessment of the condition and genetic testing options.
| Test Name | QARS1 Gene Microcephaly progressive seizures and cerebral and cerebellar atrophy 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 | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic DNA Test gene QARS1 |
| Test Details |
The QARS1 gene is associated with a rare genetic disorder called Microcephaly with Seizures and Cerebral and Cerebellar Atrophy Syndrome. This syndrome is characterized by microcephaly (abnormally small head size), progressive cerebral and cerebellar atrophy (degeneration of brain tissue), and seizures. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations or variations in the QARS1 gene that may be responsible for this syndrome. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire exome (the protein-coding regions of the genome). This can help in identifying specific genetic changes that may be causing the disorder. Genetic testing can be helpful in confirming a diagnosis, providing information about the prognosis, and guiding treatment options. It can also be beneficial for family planning and genetic counseling purposes. It is important to note that the information provided here is a general overview, and a healthcare professional or genetic counselor should be consulted for a more personalized and accurate assessment of the condition and genetic testing options. |
