PIGL Gene CHIME Syndrome Genetic Test
Cost: AED 4400.0
Test Components:
- Price: AED 4400.0
- 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 PIGL Gene CHIME syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIGL Gene CHIME syndrome NGS Genetic DNA Test gene PIGL.
Test Details:
PIGL gene CHIME syndrome NGS genetic test is a type of genetic test that analyzes the PIGL gene for mutations associated with CHIME syndrome. CHIME syndrome is a rare genetic disorder characterized by coloboma, heart defects, ichthyosis, intellectual disability, and ear abnormalities.
NGS stands for next-generation sequencing, which is a high-throughput DNA sequencing technology used to analyze multiple genes simultaneously. In this test, the PIGL gene is sequenced to identify any variations or mutations that may be present. These mutations can help confirm a diagnosis of CHIME syndrome and provide information about the specific genetic cause of the condition.
Genetic testing for CHIME syndrome can be useful for individuals who have symptoms consistent with the condition, as well as their family members. It can help with accurate diagnosis, genetic counseling, and potentially guide treatment options or management strategies. It is typically performed by a geneticist or genetic counselor and may involve a blood or saliva sample for DNA analysis.
Test Name | PIGL Gene CHIME syndrome 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 PIGL Gene CHIME syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIGL Gene CHIME syndrome NGS Genetic DNA Test gene PIGL |
Test Details |
PIGL gene CHIME syndrome NGS genetic test is a type of genetic test that analyzes the PIGL gene for mutations associated with CHIME syndrome. CHIME syndrome is a rare genetic disorder characterized by coloboma, heart defects, ichthyosis, intellectual disability, and ear abnormalities. NGS stands for next-generation sequencing, which is a high-throughput DNA sequencing technology used to analyze multiple genes simultaneously. In this test, the PIGL gene is sequenced to identify any variations or mutations that may be present. These mutations can help confirm a diagnosis of CHIME syndrome and provide information about the specific genetic cause of the condition. Genetic testing for CHIME syndrome can be useful for individuals who have symptoms consistent with the condition, as well as their family members. It can help with accurate diagnosis, genetic counseling, and potentially guide treatment options or management strategies. It is typically performed by a geneticist or genetic counselor and may involve a blood or saliva sample for DNA analysis. |