Spinal Muscular Atrophy by MLPA in Modasa
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Spinal Muscular Atrophy By MLPA1
FAQ
What other packages does Sterling Accuris offer?
Sterling Accuris offers a range of packages including Senior citizen (male and female) package, healthy heart profile, diabetes profile, vitamin profile, covid immunity package and much more. Visit our website to learn more about these packages.
What makes Sterling Accuris a better pathology lab than others?
For us, precision care, safe sample collection, timely delivery of reports, and precise reporting of patient results while adhering to health and safety precautions are the cornerstone of our success.
Do you provide home visit/collection service?
Yes. We do provide home collection services at your doorstep.
Please go ahead and book your visit today from our top menu options in this website / chat or do call us on 812 813 0000.
How long does it take to receive test results?
Though most tests are completed and reported within about 24 hours of receiving the sample for testing, certain tests take several days to weeks.
Your soft copy will be sent on registered email id and Whatsapp. Also, you will receive SMS with link to download your report. Also, your report is available on our website / app.
To know the status of the report, you can call our customer care team on 812 813 0000.
Is there any preparation or precautions for patient before tests or body checkup?
Fasting maybe required in case of a few tests to ensure accurate results.
In general, it is also advisable to abstain from alcohol and heavy diet at least for 24 hours before any health test. You can see the requirement for each test on the product page on our website / app.
Spinal Muscular Atrophy by MLPA Test in Modasa
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Sterling Accuris Diagnostics offers the Spinal Muscular Atrophy by MLPA Test in Modasa to detect hereditary condition Spinal Muscular Atrophy in children.
Overview of Spinal Muscular Atrophy by MLPA Test
The most prevalent deadly hereditary condition in children, spinal muscular atrophy (SMA), is characterised by gradual muscle weakening brought on by the degradation of the lower motor neurons. The onset can happen before birth or during adolescence, and the severity varies greatly. The SMN1 gene is not functional in people with SMA. A minority (5%) has an SMN1 deletion on one chromosome and a different SMN1 sequence on the other, while the majority (95%) has homozygous loss of SMN1 caused by deletion or gene conversion. The SMN2 gene, which is close to and highly similar to SMN1, generates less survival motor neuron protein than SMN1. In some circumstances, it has been demonstrated that the SMN2 gene copy number affects disease severity, although phenotypic factors cannot. The Multiplex Ligation-Dependent Probe Amplification (MLPA) method can be used to find single and multiple exon duplications as well as deletions within a particular exon. Using a multiplex PCR-based reaction, the relative copy number can be calculated semi-quantitatively.
Get a Spinal Muscular Atrophy by MLPA test near you to rule out any further complications that may lead to serious diseases. For accurate and precise test results head on to Sterling Accuris Diagnostics for the Spinal Muscular Atrophy by MLPA Test in Modasa.
Why and when is the Spinal Muscular Atrophy by MLPA Test done?
The doctor generally suggests this test to differentiate the copy number of both the SMN2 and SMN1 genes. This test is also used on individuals suspected of having SMA.
The most prominent symptom of muscle atrophy is the loss of muscular mass. Other symptoms of muscle atrophy include:
- One arm or one leg may be smaller than the other.
- Arm or leg heaviness in one or both
- Numbness or tingling in arms and legs
- Walking or balancing issues.
- Weakness in the face.
- Speaking and swallowing difficulties
- Regression in memory.
Spinal Muscular Atrophy by MLPA Test: Main Highlights
- Instructions: The Genomics Clinical Information Requisition Form (Form 20) must be properly filled out.
- Recommended Age: Any age group.
- Sample type for test: Blood sample (EDTA)
Understanding how to interpret Spinal Muscular Atrophy by MLPA Test Reports
The number of healthy copies of SMN1 a person carries is indicated as the carrier screening outcome for SMA:
- You have a lower chance of being a carrier if you have two copies of the healthy gene.
If you only have one functional copy of SMN1, that means you are a carrier for the damaged copy. The defective SMN1 gene copy could be passed on to your offspring.
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