SPINAL MUSCULAR ATROPHY (SMA) CARRIER DETECTION Test
Test Cost: AED 2800.0
Introduction
The Spinal Muscular Atrophy (SMA) carrier detection test is a genetic test offered by DNA Labs UAE. This test determines if an individual carries a gene mutation associated with SMA. SMA is a genetic disorder that affects the muscles and is characterized by progressive muscle weakness and atrophy.
Test Components
- Test Name: SPINAL MUSCULAR ATROPHY SMA CARRIER DETECTION Test
- Price: AED 2800.0
- Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Required Form: Duly filled Genomics Clinical information requisition form (Form 20)
- Report Delivery: Sample collected on Monday by 11 am; Report delivered on Saturday
- Method: MLPA (Multiplex Ligation-dependent Probe Amplification)
- Test Type: Genetic Disorders
- Doctor: Neurologist
- Test Department: MOLECULAR DIAGNOSTICS
- Pre Test Information: Duly filled Genomics Clinical information requisition form (Form 20) is mandatory
Test Details
The Spinal Muscular Atrophy (SMA) carrier detection test analyzes a blood or saliva sample to look for mutations in the SMN1 gene. This gene is responsible for producing a protein necessary for the survival of motor neurons. Individuals who carry a mutation in the SMN1 gene are considered carriers of SMA.
SMA carrier testing is often recommended for individuals with a family history of SMA or those planning to have children. The test provides valuable information about the risk of passing on the condition to offspring. If both parents are carriers, there is a 25% chance of having a child with SMA.
It is important to note that the carrier test does not diagnose SMA in an individual. It only determines if they carry a gene mutation associated with the condition. If a person tests positive as a carrier, genetic counseling is often recommended to discuss the implications and options for family planning.
Test Name | SPINAL MUSCULAR ATROPHY SMA CARRIER 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) carrier detection test is a genetic test that determines if an individual carries a gene mutation associated with SMA. SMA is a genetic disorder that affects the muscles and is characterized by progressive muscle weakness and atrophy. The test is typically performed by analyzing a blood or saliva sample. It looks for mutations in the SMN1 gene, which is responsible for producing a protein necessary for the survival of motor neurons. Individuals who carry a mutation in the SMN1 gene are considered carriers of SMA. SMA carrier testing is often recommended for individuals who have a family history of SMA or are planning to have children. It can provide valuable information about the risk of passing on the condition to offspring. If both parents are carriers, there is a 25% chance of having a child with SMA. It is important to note that the carrier test does not diagnose SMA in an individual. It only determines if they carry a gene mutation associated with the condition. If a person tests positive as a carrier, genetic counseling is often recommended to discuss the implications and options for family planning. |