Nx GEN SEQUENCING EPISODIC ATAXIA Test
Cost: AED 4680.0
Test Components:
- CACNA1A
- CACNB4
- GABRD
- GABRG2
- KCNA1
- SCN1A
- SCN1B
- SCN2A
- SCN9A
- SLC1A3
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:
Episodic Ataxia is a rare genetic disorder characterized by episodes of unsteady gait and coordination problems. It is caused by mutations in certain genes that are involved in the regulation of ion channels in the brain.
Nx Gen Sequencing is a next-generation sequencing technology that allows for the rapid and accurate sequencing of multiple genes simultaneously. It can be used to identify the specific genetic mutations associated with Episodic Ataxia.
To perform the Nx Gen Sequencing test for Episodic Ataxia, a sample of DNA is extracted from the patient’s blood or saliva. The DNA is then fragmented into smaller pieces and sequenced using specialized equipment. The resulting sequence data is then analyzed using bioinformatics tools to identify any mutations or variations in the genes known to be associated with Episodic Ataxia.
The Nx Gen Sequencing test for Episodic Ataxia can help in confirming a diagnosis, as well as providing information about the specific genetic mutations present in an individual. This information can be used to guide treatment decisions and provide genetic counseling to affected individuals and their families.
It is important to note that while Nx Gen Sequencing is a powerful tool for genetic testing, it may not be able to detect all possible mutations or variations in the genes associated with Episodic Ataxia. In some cases, additional testing may be required to confirm a diagnosis.
Test Name | Nx GEN SEQUENCING EPISODIC ATAXIA Test |
---|---|
Components | CACNA1A, CACNB4, GABRD, GABRG2, KCNA1, SCN1A, SCN1B, SCN2A, SCN9A, SLC1A3 |
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-Ataxia |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details |
Episodic Ataxia is a rare genetic disorder characterized by episodes of unsteady gait and coordination problems. It is caused by mutations in certain genes that are involved in the regulation of ion channels in the brain. Nx Gen Sequencing is a next-generation sequencing technology that allows for the rapid and accurate sequencing of multiple genes simultaneously. It can be used to identify the specific genetic mutations associated with Episodic Ataxia. To perform the Nx Gen Sequencing test for Episodic Ataxia, a sample of DNA is extracted from the patient’s blood or saliva. The DNA is then fragmented into smaller pieces and sequenced using specialized equipment. The resulting sequence data is then analyzed using bioinformatics tools to identify any mutations or variations in the genes known to be associated with Episodic Ataxia. The Nx Gen Sequencing test for Episodic Ataxia can help in confirming a diagnosis, as well as providing information about the specific genetic mutations present in an individual. This information can be used to guide treatment decisions and provide genetic counseling to affected individuals and their families. It is important to note that while Nx Gen Sequencing is a powerful tool for genetic testing, it may not be able to detect all possible mutations or variations in the genes associated with Episodic Ataxia. In some cases, additional testing may be required to confirm a diagnosis. |