Nx GEN SEQUENCING AICARDI-GOUTIERES SYNDROME Test
Test Name: Nx GEN SEQUENCING AICARDI-GOUTIERES SYNDROME Test
Components: ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
Price: 4680.0 AED
Sample Condition: Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery: Sample Daily by 9 am; Report 40 Working days
Method: NGS, Sanger sequencing
Test type: Genetic Disorders-Encephalopathy
Doctor: Neurologist, Pediatrician
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details
Aicardi-Goutires syndrome (AGS) is a rare genetic disorder that affects the brain, immune system, and skin. It is characterized by inflammation in the brain, leading to neurological symptoms such as developmental delays, seizures, and intellectual disability.
Nx Gen sequencing, also known as next-generation sequencing (NGS), is a high-throughput DNA sequencing technology that allows for the rapid and cost-effective analysis of multiple genes or the entire genome. It can be used to identify genetic mutations or variations associated with AGS.
The AGS test using Nx Gen sequencing involves extracting DNA from a patient’s blood or saliva sample. The DNA is then fragmented and sequenced using NGS technology. The resulting sequence data is analyzed to identify any genetic mutations or variations in genes known to be associated with AGS.
This test can help confirm a diagnosis of AGS and provide information about the specific genetic cause of the condition. It can also be used for carrier testing in families with a history of AGS or for prenatal testing in at-risk pregnancies.
It is important to note that Nx Gen sequencing for AGS is typically performed by specialized genetic testing laboratories or geneticists who are familiar with the disorder. Genetic counseling is often recommended before and after testing to discuss the implications of the results and provide support to individuals and families affected by AGS.
Test Name | Nx GEN SEQUENCING AICARDI-GOUTIERES SYNDROME Test |
---|---|
Components | ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 |
Price | 4680.0 AED |
Sample Condition | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Report Delivery | Sample Daily by 9 am; Report 40 Working days |
Method | NGS, Sanger sequencing |
Test type | Genetic Disorders-Encephalopathy |
Doctor | Neurologist, Pediatrician |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details |
Aicardi-Goutires syndrome (AGS) is a rare genetic disorder that affects the brain, immune system, and skin. It is characterized by inflammation in the brain, leading to neurological symptoms such as developmental delays, seizures, and intellectual disability. Nx Gen sequencing, also known as next-generation sequencing (NGS), is a high-throughput DNA sequencing technology that allows for the rapid and cost-effective analysis of multiple genes or the entire genome. It can be used to identify genetic mutations or variations associated with AGS. The AGS test using Nx Gen sequencing involves extracting DNA from a patient’s blood or saliva sample. The DNA is then fragmented and sequenced using NGS technology. The resulting sequence data is analyzed to identify any genetic mutations or variations in genes known to be associated with AGS. This test can help confirm a diagnosis of AGS and provide information about the specific genetic cause of the condition. It can also be used for carrier testing in families with a history of AGS or for prenatal testing in at-risk pregnancies. It is important to note that Nx Gen sequencing for AGS is typically performed by specialized genetic testing laboratories or geneticists who are familiar with the disorder. Genetic counseling is often recommended before and after testing to discuss the implications of the results and provide support to individuals and families affected by AGS. |