FTCD Gene Glutamate formiminotransferase deficiency Genetic Test
Test Name: FTCD Gene Glutamate formiminotransferase deficiency 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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Glutamate formiminotransferase deficiency.
Test Details
FTCD gene glutamate formiminotransferase deficiency NGS genetic test is a type of genetic test that examines the FTCD gene for mutations or variations that may be associated with glutamate formiminotransferase deficiency.
Glutamate formiminotransferase deficiency is a rare inherited metabolic disorder that affects the body’s ability to break down histidine, an amino acid found in many proteins. This deficiency leads to the accumulation of toxic substances in the body, causing various symptoms such as developmental delays, intellectual disability, megaloblastic anemia, and other health problems.
NGS (Next-Generation Sequencing) is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or the entire genome. In the context of the FTCD gene, NGS can identify mutations or variations in the gene that may be responsible for the development of glutamate formiminotransferase deficiency.
The FTCD gene provides instructions for producing the enzyme glutamate formiminotransferase, which plays a crucial role in the breakdown of histidine. Mutations in this gene can disrupt the enzyme’s function, leading to the accumulation of toxic substances and the development of glutamate formiminotransferase deficiency.
The FTCD gene glutamate formiminotransferase deficiency NGS genetic test involves obtaining a DNA sample, usually through a blood sample or cheek swab. The DNA is then analyzed using NGS technology to identify any mutations or variations in the FTCD gene.
This genetic test can be useful in diagnosing glutamate formiminotransferase deficiency, especially in individuals with symptoms suggestive of the disorder. It can also be used for carrier testing in individuals with a family history of the condition or for prenatal testing in families with a known FTCD gene mutation.
It’s important to note that the FTCD gene glutamate formiminotransferase deficiency NGS genetic test is a specialized test and may not be available in all genetic testing laboratories. Additionally, the interpretation of test results should be done by a qualified healthcare professional with expertise in genetics.
| Test Name | FTCD Gene Glutamate formiminotransferase deficiency 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for FTCD Gene Glutamate formiminotransferase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glutamate formiminotransferase deficiency |
| Test Details |
FTCD gene glutamate formiminotransferase deficiency NGS genetic test is a type of genetic test that examines the FTCD gene for mutations or variations that may be associated with glutamate formiminotransferase deficiency. Glutamate formiminotransferase deficiency is a rare inherited metabolic disorder that affects the body’s ability to break down histidine, an amino acid found in many proteins. This deficiency leads to the accumulation of toxic substances in the body, causing various symptoms such as developmental delays, intellectual disability, megaloblastic anemia, and other health problems. NGS (Next-Generation Sequencing) is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes or the entire genome. In the context of the FTCD gene, NGS can identify mutations or variations in the gene that may be responsible for the development of glutamate formiminotransferase deficiency. The FTCD gene provides instructions for producing the enzyme glutamate formiminotransferase, which plays a crucial role in the breakdown of histidine. Mutations in this gene can disrupt the enzyme’s function, leading to the accumulation of toxic substances and the development of glutamate formiminotransferase deficiency. The FTCD gene glutamate formiminotransferase deficiency NGS genetic test involves obtaining a DNA sample, usually through a blood sample or cheek swab. The DNA is then analyzed using NGS technology to identify any mutations or variations in the FTCD gene. This genetic test can be useful in diagnosing glutamate formiminotransferase deficiency, especially in individuals with symptoms suggestive of the disorder. It can also be used for carrier testing in individuals with a family history of the condition or for prenatal testing in families with a known FTCD gene mutation. It’s important to note that the FTCD gene glutamate formiminotransferase deficiency NGS genetic test is a specialized test and may not be available in all genetic testing laboratories. Additionally, the interpretation of test results should be done by a qualified healthcare professional with expertise in genetics. |