Spinal Muscular Atrophy Carrier Screening
Introduction to Spinal Muscular Atrophy Carrier Screening
Spinal Muscular Atrophy (SMA) is a severe genetic disorder characterized by the degeneration of motor neurons, leading to muscle weakness and atrophy. The Spinal Muscular Atrophy Carrier Screening test is designed to identify individuals who are carriers of the gene mutation associated with SMA. This screening is crucial for couples who are planning to have children, especially if there is a known family history of the disease.
What the Test Measures
The Spinal Muscular Atrophy Carrier Screening test detects the presence of genetic mutations in the SMN1 gene, which is responsible for producing a protein essential for motor neuron health. A person who carries a mutation in this gene may not show symptoms but can pass the mutation to their offspring, potentially leading to SMA in future generations.
Who Should Consider This Test
This test is recommended for:
- Couples planning to conceive, especially if there is a family history of SMA.
- Individuals with a known carrier status in their family.
- People who have symptoms suggestive of SMA or have relatives diagnosed with the condition.
Benefits of Taking the Test
Undergoing the Spinal Muscular Atrophy Carrier Screening offers several benefits:
- Informed reproductive choices: Knowing your carrier status can help couples make informed decisions regarding family planning.
- Early intervention: If both partners are carriers, they can discuss options such as preimplantation genetic diagnosis (PGD) with their healthcare provider.
- Peace of mind: Understanding your genetic status can reduce anxiety about potential health issues in future children.
Understanding Your Results
The results of the Spinal Muscular Atrophy Carrier Screening will indicate whether you are a carrier of the SMA mutation. If you are a carrier, it is essential to discuss the implications with a genetic counselor who can provide guidance on next steps and reproductive options. If you are not a carrier, you can have peace of mind regarding the risk of having a child with SMA.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Spinal Muscular Atrophy Carrier Screening | 280,000 NGN | 300,000 NGN |
Booking Your Test
To book your Spinal Muscular Atrophy Carrier Screening, please contact us at +2348077798758. This test requires a doctor’s prescription, which is not applicable for surgery and pregnancy cases or for individuals planning to travel abroad. The turnaround time for results is typically 7-10 days, and the sample type required is peripheral blood using an EDTA Vacutainer (2ml).
Make informed decisions about your family’s health today! Book your test now!