SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test
At DNA Labs UAE, we offer the SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test at a cost of AED 1290.0. This test is designed to detect mutations in the PRKCG gene, which is associated with Spinocerebellar Ataxia (SCA-14).
Test Details
The SCA-14 genetic test analyzes an individual’s DNA to identify any mutations or changes in the PRKCG gene. Spinocerebellar ataxias are a group of genetic disorders that affect the cerebellum, leading to coordination and balance problems. The PRKCG gene provides instructions for producing a protein called protein kinase C gamma (PKC), which plays a role in various cellular processes.
Mutations in the PRKCG gene can result in the production of a faulty PKC protein, disrupting normal neuronal function in the cerebellum. This disruption can lead to symptoms associated with SCA-14, including an unsteady gait, difficulty with fine motor skills, and speech problems.
Test Components
- PRKCG Gene
Price
The cost of the SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test is AED 1290.0.
Sample Condition
A minimum of 2 mL and up to 4 mL of whole blood should be collected in a Lavender top (EDTA) tube. The sample should be shipped refrigerated and should not be frozen. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery
The report for the SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test will be delivered within 10-12 days.
Method
The SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test is conducted using PCR (Polymerase Chain Reaction) and Sequencing techniques.
Test Type
The SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test falls under the category of Neurologic Disorder-Ataxia tests.
Doctor
This test is typically ordered by Neurologists.
Test Department
The SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test is conducted in the Molecular Diagnostics department of DNA Labs UAE.
Pre Test Information
A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory before conducting the SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test.
About SCA-14 and PRKCG Gene
SCA-14 (Spinocerebellar Ataxia) is a genetic disorder that affects the cerebellum, causing coordination and balance problems. The PRKCG gene is responsible for producing a protein called protein kinase C gamma (PKC), which is involved in various cellular processes, including signal transduction and the regulation of neuronal development and function.
Mutations in the PRKCG gene can lead to the production of a faulty PKC protein, disrupting normal neuronal function in the cerebellum. This disruption results in the symptoms associated with SCA-14, such as an unsteady gait, difficulty with fine motor skills, and speech problems.
Who Should Consider the Test?
The SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test is useful for individuals who have symptoms consistent with SCA-14 and a family history of spinocerebellar ataxias. It can also be used for genetic counseling and family planning purposes, as it provides information about the risk of passing on the mutation to future generations.
Importance of Professional Guidance
It is important to note that genetic testing for SCA-14 should be conducted by a qualified healthcare professional or genetic counselor. These professionals can interpret the test results and provide appropriate guidance and support.
| Test Name | SCA-14 SPINOCEREBELLAR ATAXIA PRKCG GENE MUTATION Test |
|---|---|
| Components | *PRKCG 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 | 10-12 days |
| 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 |
The SCA-14 (Spinocerebellar Ataxia) genetic test is used to detect mutations in the PRKCG gene. Spinocerebellar ataxias are a group of genetic disorders that affect the cerebellum, resulting in problems with coordination and balance. The PRKCG gene provides instructions for producing a protein called protein kinase C gamma (PKC). This protein is involved in various cellular processes, including signal transduction and the regulation of neuronal development and function. Mutations in the PRKCG gene can lead to the production of a faulty PKC protein, which can disrupt normal neuronal function in the cerebellum. This disruption can result in the symptoms associated with SCA-14, such as unsteady gait, difficulty with fine motor skills, and speech problems. The SCA-14 genetic test analyzes the DNA of an individual to identify any mutations or changes in the PRKCG gene. This test can help confirm a diagnosis of SCA-14 and provide information about the specific mutation present in the individual. Genetic testing for SCA-14 can be useful for individuals who have symptoms consistent with the disorder and a family history of spinocerebellar ataxias. It can also be used for genetic counseling and family planning purposes, as it can provide information about the risk of passing on the mutation to future generations. It is important to note that genetic testing for SCA-14 should be conducted by a qualified healthcare professional or genetic counselor, who can interpret the results and provide appropriate guidance and support. |
