STT3A Gene Congenital disorder of glycosylation type Iw Genetic Test
Test Name: STT3A Gene Congenital disorder of glycosylation type Iw 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 STT3A Gene Congenital disorder of glycosylation, type Iw NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Congenital disorder of glycosylation, type Iw.
Test Details
Congenital disorder of glycosylation (CDG) is a group of genetic disorders that affect the process of glycosylation, which is the attachment of sugar molecules to proteins and lipids. One specific type of CDG is called type Iw, which is caused by mutations in the STT3A gene.
The STT3A gene provides instructions for producing a protein called oligosaccharyltransferase complex subunit STT3A. This protein is involved in the process of adding sugar molecules to newly formed proteins in the endoplasmic reticulum, a cellular organelle. Mutations in the STT3A gene can disrupt this process, leading to the improper glycosylation of proteins and causing various symptoms and health problems.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the case of CDG type Iw, NGS genetic testing can identify mutations in the STT3A gene by sequencing its DNA. This test can help confirm a diagnosis of CDG type Iw and provide information about the specific genetic mutation involved.
NGS genetic testing for CDG type Iw can be performed using a small blood sample or other tissue samples. The DNA is extracted from the sample, and specific regions of the STT3A gene are amplified and sequenced. The resulting sequence data is then compared to a reference sequence to identify any mutations or genetic variants.
This genetic test can be beneficial for individuals suspected of having CDG type Iw, as it can provide a definitive diagnosis and help guide appropriate medical management and treatment. It can also be useful for genetic counseling and family planning purposes, as it can determine the likelihood of passing on the condition to future generations.
| Test Name | STT3A Gene Congenital disorder of glycosylation type Iw 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 STT3A Gene Congenital disorder of glycosylation, type Iw NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Congenital disorder of glycosylation, type Iw |
| Test Details |
Congenital disorder of glycosylation (CDG) is a group of genetic disorders that affect the process of glycosylation, which is the attachment of sugar molecules to proteins and lipids. One specific type of CDG is called type Iw, which is caused by mutations in the STT3A gene. The STT3A gene provides instructions for producing a protein called oligosaccharyltransferase complex subunit STT3A. This protein is involved in the process of adding sugar molecules to newly formed proteins in the endoplasmic reticulum, a cellular organelle. Mutations in the STT3A gene can disrupt this process, leading to the improper glycosylation of proteins and causing various symptoms and health problems. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. In the case of CDG type Iw, NGS genetic testing can identify mutations in the STT3A gene by sequencing its DNA. This test can help confirm a diagnosis of CDG type Iw and provide information about the specific genetic mutation involved. NGS genetic testing for CDG type Iw can be performed using a small blood sample or other tissue samples. The DNA is extracted from the sample, and specific regions of the STT3A gene are amplified and sequenced. The resulting sequence data is then compared to a reference sequence to identify any mutations or genetic variants. This genetic test can be beneficial for individuals suspected of having CDG type Iw, as it can provide a definitive diagnosis and help guide appropriate medical management and treatment. It can also be useful for genetic counseling and family planning purposes, as it can determine the likelihood of passing on the condition to future generations. |
