Nx GEN SEQUENCING CANAVAN DISEASE Test
At DNA Labs UAE, we offer the Nx GEN SEQUENCING CANAVAN DISEASE Test at a cost of AED 4680.0. This test is designed to diagnose Canavan disease, a rare genetic disorder that affects the central nervous system.
Test Components
- ASPA
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-Multiple genetic defects
Doctor
Neurologist, Pediatrician
Test Department
MOLECULAR DIAGNOSTICS
Pre Test Information
Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Test Details
Canavan disease is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the ASPA gene, which leads to the buildup of a substance called N-acetylaspartic acid (NAA) in the brain.
Next-generation sequencing (NGS) can be used to test for Canavan disease by sequencing the ASPA gene and identifying any mutations or variants. NGS technologies allow for the simultaneous sequencing of multiple genes, making it a powerful tool for genetic testing.
The process involves extracting DNA from a patient’s blood or saliva sample and preparing it for sequencing. The DNA is then amplified using polymerase chain reaction (PCR) to create multiple copies of the ASPA gene. These copies are then sequenced using NGS platforms, such as Illumina or Ion Torrent, which generate millions of short DNA sequences.
The resulting sequences are then aligned to a reference genome, and any differences or mutations in the ASPA gene are identified. Bioinformatics analysis is performed to interpret the sequencing data and determine if any disease-causing mutations are present.
NGS-based testing for Canavan disease offers several advantages over traditional sequencing methods. It is faster, more cost-effective, and can detect a wide range of genetic variants. This allows for more comprehensive and accurate diagnosis of Canavan disease.
It is important to note that NGS testing for Canavan disease should be performed by a qualified geneticist or genetic counselor, who can interpret the results and provide appropriate genetic counseling. Additionally, NGS testing may not be covered by all insurance providers, so it is advisable to check with your healthcare provider and insurance company regarding coverage and costs.
| Test Name | Nx GEN SEQUENCING CANAVAN DISEASE Test |
|---|---|
| Components | *ASPA |
| 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-Multiple genetic defects |
| Doctor | Neurologist, Pediatrician |
| Test Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
| Test Details |
Canavan disease is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the ASPA gene, which leads to the buildup of a substance called N-acetylaspartic acid (NAA) in the brain. Next-generation sequencing (NGS) can be used to test for Canavan disease by sequencing the ASPA gene and identifying any mutations or variants. NGS technologies allow for the simultaneous sequencing of multiple genes, making it a powerful tool for genetic testing. The process involves extracting DNA from a patient’s blood or saliva sample and preparing it for sequencing. The DNA is then amplified using polymerase chain reaction (PCR) to create multiple copies of the ASPA gene. These copies are then sequenced using NGS platforms, such as Illumina or Ion Torrent, which generate millions of short DNA sequences. The resulting sequences are then aligned to a reference genome, and any differences or mutations in the ASPA gene are identified. Bioinformatics analysis is performed to interpret the sequencing data and determine if any disease-causing mutations are present. NGS-based testing for Canavan disease offers several advantages over traditional sequencing methods. It is faster, more cost-effective, and can detect a wide range of genetic variants. This allows for more comprehensive and accurate diagnosis of Canavan disease. It is important to note that NGS testing for Canavan disease should be performed by a qualified geneticist or genetic counselor, who can interpret the results and provide appropriate genetic counseling. Additionally, NGS testing may not be covered by all insurance providers, so it is advisable to check with your healthcare provider and insurance company regarding coverage and costs. |
