ISCU Gene Myopathy with lactic acidosis hereditary Genetic Test
Components
- Test Name: ISCU Gene Myopathy with lactic acidosis hereditary Genetic Test
- 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: Vascular Diseases
- Doctor: General Physician
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic DNA Test gene ISCU
Test Details
ISCU gene myopathy with lactic acidosis is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that both copies of the ISCU gene, one from each parent, must be mutated for the disorder to be present. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the ISCU gene. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or even the entire genome. It can detect both small and large genetic variations, including single nucleotide variants (SNVs), insertions, deletions, and copy number variations (CNVs).
Genetic testing for ISCU gene myopathy with lactic acidosis can help confirm a diagnosis, provide information about disease prognosis, and guide treatment decisions. It can also be used for carrier testing in individuals with a family history of the disorder. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and potential risks of genetic testing before undergoing any testing procedure.
| Test Name | ISCU Gene Myopathy with lactic acidosis hereditary 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 | Vascular Diseases |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic DNA Test gene ISCU |
| Test Details | ISCU gene myopathy with lactic acidosis is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that both copies of the ISCU gene, one from each parent, must be mutated for the disorder to be present. NGS (Next-Generation Sequencing) genetic testing can be used to identify mutations in the ISCU gene. NGS is a high-throughput sequencing technology that allows for the simultaneous sequencing of multiple genes or even the entire genome. It can detect both small and large genetic variations, including single nucleotide variants (SNVs), insertions, deletions, and copy number variations (CNVs). Genetic testing for ISCU gene myopathy with lactic acidosis can help confirm a diagnosis, provide information about disease prognosis, and guide treatment decisions. It can also be used for carrier testing in individuals with a family history of the disorder. It is important to consult with a healthcare professional or a genetic counselor to discuss the benefits, limitations, and potential risks of genetic testing before undergoing any testing procedure. |
