Nx GEN SEQUENCING ALEXANDER DISEASE Test
Welcome to DNA Labs UAE, a leading genetic lab offering advanced testing services. In this blog, we will discuss the Nx GEN SEQUENCING ALEXANDER DISEASE Test, including its cost, symptoms, diagnosis process, and more.
Test Details
Alexander Disease is a rare genetic disorder that affects the nervous system. It is caused by mutations in the GFAP gene, which encodes the glial fibrillary acidic protein. This protein is essential for the normal functioning of astrocytes, a type of brain cell.
To test for Alexander Disease, a next-generation sequencing (NGS) approach can be used. NGS allows for the simultaneous sequencing of multiple genes, making it a powerful tool for genetic testing.
Here is a general overview of the steps involved in the NGS testing process for Alexander Disease:
- Sample collection: A small sample of DNA is collected from the patient, typically through a blood sample or a cheek swab.
- DNA extraction: The DNA is extracted from the collected sample using standard laboratory techniques.
- Library preparation: The extracted DNA is then fragmented and prepared for sequencing. This involves attaching specific DNA adapters to the fragments, which will allow for the amplification and sequencing of the target genes.
- Targeted sequencing: The prepared DNA library is loaded onto a sequencing instrument, such as an Illumina sequencer. The instrument will sequence the DNA fragments and generate millions of short reads.
- Data analysis: The generated sequencing data is then analyzed using bioinformatics tools. This involves aligning the reads to a reference genome and identifying any genetic variations or mutations in the GFAP gene.
- Variant interpretation: The identified genetic variations are then compared to known disease-causing mutations in the GFAP gene. Clinicians and geneticists will assess the significance of these variants and determine whether they are likely to be causing Alexander Disease.
It’s important to note that NGS testing can also include other genes associated with similar neurological disorders to rule out other potential causes of symptoms. Additionally, genetic testing for Alexander Disease can also be done using other techniques, such as Sanger sequencing or targeted gene panel testing. The specific details of the NGS test, including the sequencing platform used and the bioinformatics analysis pipeline, may vary depending on the laboratory performing the test.
For the Nx GEN SEQUENCING ALEXANDER DISEASE Test, the cost is 4680.0 AED. The test can be ordered by a neurologist or pediatrician and is performed in the Molecular Diagnostics department of DNA Labs UAE.
Symptoms and Diagnosis
The symptoms of Alexander Disease can vary widely depending on the age of onset and the specific mutations involved. Common symptoms include spasticity and seizures.
To diagnose Alexander Disease, a sample of 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes is required. The sample should be submitted refrigerated, without freezing. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
The report for the Nx GEN SEQUENCING ALEXANDER DISEASE Test is delivered daily by 9 am, and the turnaround time is approximately 40 working days.
Conclusion
If you suspect Alexander Disease or want to explore genetic testing options for neurological disorders, the Nx GEN SEQUENCING ALEXANDER DISEASE Test offered by DNA Labs UAE is a reliable and comprehensive option. With advanced NGS technology and expert analysis, this test can provide valuable insights into the genetic basis of the disease. Consult with a healthcare professional or a genetic counselor for more specific information about the test and the testing process.
Test Name | Nx GEN SEQUENCING ALEXANDER DISEASE Test |
---|---|
Components | *GFAP |
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-Spasticity with seizures |
Doctor | Neurologist, Pediatrician |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test Details |
Alexander Disease is a rare genetic disorder that affects the nervous system. It is caused by mutations in the GFAP gene, which encodes the glial fibrillary acidic protein. This protein is essential for the normal functioning of astrocytes, a type of brain cell. To test for Alexander Disease, a next-generation sequencing (NGS) approach can be used. NGS allows for the simultaneous sequencing of multiple genes, making it a powerful tool for genetic testing. Here is a general overview of the steps involved in the NGS testing process for Alexander Disease: 1. Sample collection: A small sample of DNA is collected from the patient, typically through a blood sample or a cheek swab. 2. DNA extraction: The DNA is extracted from the collected sample using standard laboratory techniques. 3. Library preparation: The extracted DNA is then fragmented and prepared for sequencing. This involves attaching specific DNA adapters to the fragments, which will allow for the amplification and sequencing of the target genes. 4. Targeted sequencing: The prepared DNA library is loaded onto a sequencing instrument, such as an Illumina sequencer. The instrument will sequence the DNA fragments and generate millions of short reads. 5. Data analysis: The generated sequencing data is then analyzed using bioinformatics tools. This involves aligning the reads to a reference genome and identifying any genetic variations or mutations in the GFAP gene. 6. Variant interpretation: The identified genetic variations are then compared to known disease-causing mutations in the GFAP gene. Clinicians and geneticists will assess the significance of these variants and determine whether they are likely to be causing Alexander Disease. It’s important to note that NGS testing can also include other genes associated with similar neurological disorders to rule out other potential causes of symptoms. Additionally, genetic testing for Alexander Disease can also be done using other techniques, such as Sanger sequencing or targeted gene panel testing. The specific details of the NGS test, including the sequencing platform used and the bioinformatics analysis pipeline, may vary depending on the laboratory performing the test. It is recommended to consult with a healthcare professional or a genetic counselor for more specific information about the Alexander Disease test and the testing process. |