ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy Genetic Test
Are you or a loved one experiencing symptoms of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)? DNA Labs UAE offers a comprehensive genetic test that can help diagnose this rare genetic disorder. Read on to learn more about the test, its components, cost, and other important details.
Test Name: ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
- Pre Test Information: Clinical History of Patient who is going for ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy.
About the ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy Genetic Test
The ASAH1 gene is associated with a rare genetic disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This disorder is characterized by progressive muscle weakness and wasting (spinal muscular atrophy) along with myoclonic epilepsy, which is a type of seizure disorder characterized by sudden, brief muscle jerks.
NGS (next-generation sequencing) genetic testing refers to a high-throughput method of sequencing DNA that allows for the simultaneous analysis of multiple genes or the entire exome (all the protein-coding regions of the genome). NGS can be used to identify variations or mutations in the ASAH1 gene that may be responsible for SMA-PME.
Genetic testing for SMA-PME can help confirm a diagnosis, provide information about disease progression and prognosis, and guide treatment decisions. It can also be used for carrier testing and prenatal diagnosis in families with a known ASAH1 gene mutation.
It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or genetic counselor who can provide appropriate genetic counseling and support.
| Test Name | ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy |
| Test Details |
The ASAH1 gene is associated with a rare genetic disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This disorder is characterized by progressive muscle weakness and wasting (spinal muscular atrophy) along with myoclonic epilepsy, which is a type of seizure disorder characterized by sudden, brief muscle jerks. NGS (next-generation sequencing) genetic testing refers to a high-throughput method of sequencing DNA that allows for the simultaneous analysis of multiple genes or the entire exome (all the protein-coding regions of the genome). NGS can be used to identify variations or mutations in the ASAH1 gene that may be responsible for SMA-PME. Genetic testing for SMA-PME can help confirm a diagnosis, provide information about disease progression and prognosis, and guide treatment decisions. It can also be used for carrier testing and prenatal diagnosis in families with a known ASAH1 gene mutation. It is important to note that genetic testing should be performed and interpreted by a qualified healthcare professional or genetic counselor who can provide appropriate genetic counseling and support. |
