SPINAL MUSCULAR ATROPHY SMA MUTATION DETECTION Test
Test Name: SPINAL MUSCULAR ATROPHY SMA MUTATION DETECTION Test
Components: Price: 2800.0 AED
Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Report Delivery: Sample Mon by 11 am; Report Sat
Method: MLPA
Test type: Genetic Disorders
Doctor: Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information: Duly filled Genomics Clinical information requisition form (Form 20) is mandatory.
The Spinal Muscular Atrophy (SMA) Mutation Detection Test is a genetic test that is used to identify specific mutations in the survival motor neuron 1 (SMN1) gene. SMA is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. The test is typically performed on individuals who have symptoms of SMA or have a family history of the condition. It can also be used for carrier testing in individuals who do not have symptoms but may carry a mutated SMN1 gene.
The test involves collecting a blood or saliva sample from the individual, which is then sent to a laboratory for analysis. The laboratory uses various techniques, such as polymerase chain reaction (PCR) and DNA sequencing, to identify any mutations in the SMN1 gene. The results of the test can help diagnose SMA and determine the specific type of SMA present, as well as provide information about the likelihood of passing the condition on to future children.
It is important to note that there are different types of SMA, and not all cases are caused by mutations in the SMN1 gene. Therefore, this test may not detect all cases of SMA. In some cases, additional testing may be required to confirm a diagnosis.
Overall, the Spinal Muscular Atrophy Mutation Detection Test is a valuable tool in diagnosing and understanding SMA, allowing for appropriate management and genetic counseling for affected individuals and their families.
Test Name | SPINAL MUSCULAR ATROPHY SMA MUTATION DETECTION Test |
---|---|
Components | |
Price | 2800.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filledGenomics Clinical information requisition form (Form 20) is mandatory. |
Report Delivery | Sample Mon by 11 am; Report Sat |
Method | MLPA |
Test type | Genetic Disorders |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filledGenomics Clinical information requisition form (Form 20) is mandatory. |
Test Details |
The Spinal Muscular Atrophy (SMA) Mutation Detection Test is a genetic test that is used to identify specific mutations in the survival motor neuron 1 (SMN1) gene. SMA is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. The test is typically performed on individuals who have symptoms of SMA or have a family history of the condition. It can also be used for carrier testing in individuals who do not have symptoms but may carry a mutated SMN1 gene. The test involves collecting a blood or saliva sample from the individual, which is then sent to a laboratory for analysis. The laboratory uses various techniques, such as polymerase chain reaction (PCR) and DNA sequencing, to identify any mutations in the SMN1 gene. The results of the test can help diagnose SMA and determine the specific type of SMA present, as well as provide information about the likelihood of passing the condition on to future children. It is important to note that there are different types of SMA, and not all cases are caused by mutations in the SMN1 gene. Therefore, this test may not detect all cases of SMA. In some cases, additional testing may be required to confirm a diagnosis. Overall, the Spinal Muscular Atrophy Mutation Detection Test is a valuable tool in diagnosing and understanding SMA, allowing for appropriate management and genetic counseling for affected individuals and their families. |