BSCL2 Gene Neuropathy distal hereditary motor type 5A Genetic Test
At DNA Labs UAE, we offer the BSCL2 Gene Neuropathy distal hereditary motor type 5A Genetic Test for individuals suspected of having this rare genetic disorder. This test can help confirm a diagnosis and provide important genetic information.
Test Details
BSCL2 gene neuropathy, distal hereditary motor, type 5A (DHMN5A) is a rare genetic disorder that affects the peripheral nerves, leading to muscle weakness and wasting primarily in the distal parts of the limbs. It is caused by mutations in the BSCL2 gene.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to rapidly and simultaneously analyze multiple genes or even the entire genome. In the context of DHMN5A, NGS genetic testing can be used to identify mutations in the BSCL2 gene that are associated with the condition.
NGS genetic testing for DHMN5A typically involves obtaining a blood or saliva sample from the individual suspected of having the condition. The DNA in the sample is then sequenced using NGS technology, and the resulting data is analyzed to identify any mutations or variations in the BSCL2 gene.
The results of the NGS genetic test can help confirm a diagnosis of DHMN5A and provide information about the specific genetic mutation present in an individual. This information can be useful for genetic counseling, family planning, and potentially guiding treatment decisions.
It is important to note that NGS genetic testing may not be available in all healthcare settings and can be costly. Additionally, the interpretation of the test results requires expertise in genetics, so it is typically performed by specialized laboratories or geneticists.
Test Name: BSCL2 Gene Neuropathy distal hereditary motor type 5A Genetic Test
Components
- Price: 4400.0 AED
Sample Condition
Blood or Extracted DNA or One drop Blood on FTA Card
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 BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic DNA Test
A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene Neuropathy, distal hereditary motor, type 5A
| Test Name | BSCL2 Gene Neuropathy distal hereditary motor type 5A 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 BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene Neuropathy, distal hereditary motor, type 5A |
| Test Details |
BSCL2 gene neuropathy, distal hereditary motor, type 5A (DHMN5A) is a rare genetic disorder that affects the peripheral nerves, leading to muscle weakness and wasting primarily in the distal parts of the limbs. It is caused by mutations in the BSCL2 gene. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to rapidly and simultaneously analyze multiple genes or even the entire genome. In the context of DHMN5A, NGS genetic testing can be used to identify mutations in the BSCL2 gene that are associated with the condition. NGS genetic testing for DHMN5A typically involves obtaining a blood or saliva sample from the individual suspected of having the condition. The DNA in the sample is then sequenced using NGS technology, and the resulting data is analyzed to identify any mutations or variations in the BSCL2 gene. The results of the NGS genetic test can help confirm a diagnosis of DHMN5A and provide information about the specific genetic mutation present in an individual. This information can be useful for genetic counseling, family planning, and potentially guiding treatment decisions. It is important to note that NGS genetic testing may not be available in all healthcare settings and can be costly. Additionally, the interpretation of the test results requires expertise in genetics, so it is typically performed by specialized laboratories or geneticists. |
