Nx GEN SEQUENCING ATAXIA-TELANGIECTASIA Test
Test Cost: AED 4680.0
Test Components:
- ATM
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-Ataxia
Doctor:
Neurologist
Test Department:
MOLECULAR DIAGNOSTICS
Pre Test Information:
Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details:
Ataxia-telangiectasia (A-T) is a rare genetic disorder characterized by progressive neurological impairment and the development of small, spider-like blood vessels called telangiectasias. Next-generation sequencing (NGS) can be used to test for mutations in the genes associated with A-T.
The primary gene associated with A-T is called ATM (ataxia-telangiectasia mutated). NGS can be used to sequence the entire coding region of the ATM gene and identify any mutations or variants that may be present. This technique allows for a comprehensive analysis of the gene, including the identification of small insertions, deletions, or point mutations that may not be detected by other methods.
NGS can also be used to test for mutations in other genes that may be associated with similar symptoms or conditions, such as NBN (nibrin) or MRE11A (meiotic recombination 11 homolog A). These genes are involved in DNA repair and play a role in maintaining genomic stability, similar to ATM.
By using NGS, healthcare professionals can accurately diagnose A-T and provide appropriate genetic counseling and management for affected individuals and their families. Additionally, NGS can help in identifying carriers of A-T mutations, allowing for family planning and prenatal testing options.
Overall, NGS is a powerful tool for the genetic testing of A-T and can provide important insights into the underlying genetic causes of the disorder.
| Test Name | Nx GEN SEQUENCING ATAXIA-TELANGIECTASIA Test |
|---|---|
| Components | *ATM |
| 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.\n. |
| Report Delivery | Sample Daily by 9 am; Report 40 Working days |
| Method | NGS, Sanger sequencing |
| Test type | Genetic Disorders-Ataxia |
| Doctor | Neurologist |
| Test Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
| Test Details |
Ataxia-telangiectasia (A-T) is a rare genetic disorder characterized by progressive neurological impairment and the development of small, spider-like blood vessels called telangiectasias. Next-generation sequencing (NGS) can be used to test for mutations in the genes associated with A-T. The primary gene associated with A-T is called ATM (ataxia-telangiectasia mutated). NGS can be used to sequence the entire coding region of the ATM gene and identify any mutations or variants that may be present. This technique allows for a comprehensive analysis of the gene, including the identification of small insertions, deletions, or point mutations that may not be detected by other methods. NGS can also be used to test for mutations in other genes that may be associated with similar symptoms or conditions, such as NBN (nibrin) or MRE11A (meiotic recombination 11 homolog A). These genes are involved in DNA repair and play a role in maintaining genomic stability, similar to ATM. By using NGS, healthcare professionals can accurately diagnose A-T and provide appropriate genetic counseling and management for affected individuals and their families. Additionally, NGS can help in identifying carriers of A-T mutations, allowing for family planning and prenatal testing options. Overall, NGS is a powerful tool for the genetic testing of A-T and can provide important insights into the underlying genetic causes of the disorder. |
