SCA-23 SPINOCEREBELLAR ATAXIA PDYN GENE MUTATION Test
Test Name: SCA-23 SPINOCEREBELLAR ATAXIA PDYN GENE MUTATION Test
Components: PDYN Gene
Price: 1290.0 AED
Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery: Sample Tue by 11 am; Report Sat
Method: PCR, Sequencing
Test type: Neurologic Disorder-Ataxia
Doctor: Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details
SCA-23, also known as Spinocerebellar Ataxia type 23, is a rare genetic disorder characterized by progressive degeneration of the cerebellum, resulting in impaired coordination and balance. It is caused by mutations in the PDYN gene.
To diagnose SCA-23, a genetic test is performed to identify mutations in the PDYN gene. This test involves obtaining a sample of the individual’s DNA, usually through a blood sample or saliva sample. The DNA is then analyzed to identify any mutations or changes in the PDYN gene sequence.
Genetic testing for SCA-23 can help confirm a diagnosis in individuals showing symptoms of ataxia and determine if they carry the PDYN gene mutation. It can also be used for predictive testing in individuals with a family history of SCA-23 to determine if they have inherited the mutation.
It is important to note that SCA-23 is a rare condition, and genetic testing for this specific gene mutation may not be readily available in all healthcare settings. A consultation with a genetic counselor or a neurologist specializing in ataxias can help guide individuals in obtaining the appropriate testing and diagnosis.
Test Name | SCA-23 SPINOCEREBELLAR ATAXIA PDYN GENE MUTATION Test |
---|---|
Components | *PDYN Gene |
Price | 1290.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Report Delivery | Sample Tue by 11 am; Report Sat |
Method | PCR, Sequencing |
Test type | Neurologic Disorder-Ataxia |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Test Details |
SCA-23, also known as Spinocerebellar Ataxia type 23, is a rare genetic disorder characterized by progressive degeneration of the cerebellum, resulting in impaired coordination and balance. It is caused by mutations in the PDYN gene. To diagnose SCA-23, a genetic test is performed to identify mutations in the PDYN gene. This test involves obtaining a sample of the individual’s DNA, usually through a blood sample or saliva sample. The DNA is then analyzed to identify any mutations or changes in the PDYN gene sequence. Genetic testing for SCA-23 can help confirm a diagnosis in individuals showing symptoms of ataxia and determine if they carry the PDYN gene mutation. It can also be used for predictive testing in individuals with a family history of SCA-23 to determine if they have inherited the mutation. It is important to note that SCA-23 is a rare condition, and genetic testing for this specific gene mutation may not be readily available in all healthcare settings. A consultation with a genetic counselor or a neurologist specializing in ataxias can help guide individuals in obtaining the appropriate testing and diagnosis. |