Nx GEN SEQUENCING COMPREHENSIVE EPILEPSY Test
Test Cost: AED 4680.0
Symptoms and Diagnosis
Epilepsy is a neurological disorder characterized by recurrent seizures. It can manifest in various ways, including convulsions, loss of consciousness, and abnormal movements or sensations. Diagnosing epilepsy involves a thorough evaluation of symptoms, medical history, and neurological examinations. In some cases, additional tests such as EEG (electroencephalogram) or brain imaging may be required to confirm the diagnosis.
Test Components
- ACY1
- ADRA2B
- ADSL
- ALDH7A1
- AMT
- ARHGEF15
- ARHGEF9
- ARX
- ASAH1
- CACNA1H
- CACNB4
- CDKL5
- CERS1
- CHRNA2
- CHRNA4
- CHRNB2
- CLCN2
- CNTNAP2
- CPA6
- CPT2
- CSTB
- DEPDC5
- DRD2
- EFHC1
- EPM2A
- FOLR1
- FOXG1
- GAB- RA1
- GABRB3
- GABRD
- GABRG2
- GAMT
- GCSH
- GLDC
- GOSR2
- GRIN2A
- GRIN2B
- JRK
- KCNJ10
- KCNMA1
- KCNQ2
- KCNQ3
- KCNT1
- KCTD7
- LGI1
- MAPK10
- MBD5
- MECP2
- MEF2C
- MFSD8
- MTHFR
- MTOR
- NEDD4L
- NEU1
- NHLRC1
- NOL3
- NRXN1
- PCDH19
- PIGA
- PIGO
- PIGV
- PLCB1
- PNKP
- PNPO
- POLG
- PPT1
- PRICKLE1
- PRICKLE2
- PRRT2
- QARS
- RBFOX1
- RBFOX3
- RNASEH2A
- RNASEH2B
- RNASEH2C
- ROGDI
- SAMHD1
- SCARB2
- SCN1A
- SCN1B
- SCN2A
- SCN3A
- SCN8A
- SCN9A
- SGCE
- SLC13A5
- SLC19A3
- SLC25A12
- SLC25A22
- SLC2A1
- SLC35A2
- SLC6A8
- SLC9A6
- SPTAN1
- SRPX2
- ST3GAL3
- ST3GAL5
- STXBP1
- SYN1
- SYNGAP1
- SZT2
- TBC1D24
- TBCE
- TCF4
- TPP1
- TREX1
- TSC1
- TSC2
- UBE3A
- WWOX
- ZEB2
Price: AED 4680.0
Sample Condition
To perform the Nx GEN SEQUENCING COMPREHENSIVE EPILEPSY Test, please submit 10 mL (minimum 5 mL) of whole blood from 2 Lavender Top (EDTA) tubes. The samples should be shipped refrigerated and should not be frozen. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery
The sample should be submitted daily by 9 am. The report will be delivered within 40 working days.
Method
The Nx GEN SEQUENCING COMPREHENSIVE EPILEPSY Test utilizes Next-generation sequencing (NGS) and Sanger sequencing methods to analyze the genetic components. NGS allows for rapid and cost-effective sequencing of large amounts of DNA, while Sanger sequencing is a traditional method for DNA sequencing.
Test Type
The Nx GEN SEQUENCING COMPREHENSIVE EPILEPSY Test falls under the category of Genetic Disorders-Epilepsy.
Doctor
This test is typically referred by a Neurologist.
Test Department
The test is conducted in the Molecular Diagnostics department.
Pre Test Information
A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory before conducting the test.
Test Details
Next-generation sequencing (NGS) has revolutionized genomics by enabling rapid and cost-effective sequencing of large amounts of DNA. The Nx GEN SEQUENCING COMPREHENSIVE EPILEPSY Test utilizes NGS technology to sequence the entire exome or even the entire genome of an individual with epilepsy. This comprehensive approach allows for the identification of genetic variants associated with epilepsy development or susceptibility.
By comparing the sequence data of an individual with epilepsy to a reference genome, researchers can identify genetic mutations, structural variations, or other genomic alterations that may contribute to epilepsy. These findings provide valuable insights into the genetic causes of epilepsy and can guide personalized treatment strategies.
In addition to whole exome or genome sequencing, targeted approaches can also be used to analyze specific epilepsy-related genes or gene panels. These targeted approaches increase the efficiency and sensitivity of the sequencing process.
The Nx GEN SEQUENCING COMPREHENSIVE EPILEPSY Test offers a comprehensive analysis of the genetic basis of epilepsy and aids in the development of personalized treatment approaches for individuals with this condition.
Test Name | Nx GEN SEQUENCING COMPREHENSIVE EPILEPSY Test |
---|---|
Components | ACY1, ADRA2B, ADSL, ALDH7A1, AMT, ARHGEF15, ARHGEF9, ARX, ASAH1, CACNA1H, CACNB4, CDKL5, CERS1, CHRNA2, CHRNA4, CHRNB2, CLCN2, CNTNAP2, CPA6, CPT2, CSTB, DEPDC5, DRD2, EFHC1, EPM2A, FOLR1, FOXG1, GAB- RA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GLDC, GOSR2, GRIN2A, GRIN2B, JRK, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAPK10, MBD5, MECP2, MEF2C, MFSD8, MTHFR, MTOR, NEDD4L, NEU1, NHLRC1, NOL3, NRXN1, PCDH19, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, QARS, RBFOX1, RBFOX3, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SGCE, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBCE, TCF4, TPP1, TREX1, TSC1, TSC2, UBE3A, WWOX, ZEB2 |
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-Epilepsy |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details |
Next-generation sequencing (NGS) refers to the high-throughput DNA sequencing technologies that have revolutionized the field of genomics. NGS allows for the rapid and cost-effective sequencing of large amounts of DNA, enabling researchers to analyze entire genomes or specific regions of interest in a comprehensive manner. A comprehensive epilepsy test using NGS would involve sequencing the entire exome (the protein-coding regions of the genome) or even the entire genome of an individual with epilepsy. This approach allows for the identification of genetic variants that may be associated with the development or susceptibility to epilepsy. By comparing the sequence data of an individual with epilepsy to a reference genome, researchers can identify genetic mutations, structural variations, or other genomic alterations that may contribute to the development of epilepsy. These findings can help in understanding the underlying genetic causes of epilepsy and potentially guide personalized treatment strategies. Comprehensive epilepsy tests using NGS can also involve the analysis of specific epilepsy-related genes or gene panels. These targeted approaches allow for a more focused analysis of genes known to be associated with epilepsy, increasing the sensitivity and efficiency of the sequencing process. Overall, NGS-based comprehensive epilepsy tests have the potential to provide valuable insights into the genetic basis of epilepsy and aid in the development of personalized treatment approaches for individuals with this condition. |