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Spinal Muscular Atrophy (SMA) Microdeletion
Also known as: SMA (Spinal Muscular Atrophy) Microdeletion, Amniotic Fluid
No special precautions
Sample Type
Blood
Recommended for
Male, Female
Report
Within 24 Hours
Blood test at Home
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Overview
The SMN1 gene is responsible for producing a protein that is crucial for motor neuron survival. Without this protein, motor neurons deteriorate, leading to muscle weakness and spinal muscular atrophy (SMA). Looking for abnormalities in this gene aids in the clinical diagnosis of SMA. The Spinal Muscular Atrophy (SMA) Microdeletion test is used to confirm or rule out a clinical diagnosis of SMA, a genetic disorder that affects the motor neurons in the spinal cord. This test specifically looks for microdeletions in the SMN1 gene, which is associated with SMA. By analyzing the presence or absence of these microdeletions, the test can provide a definitive diagnosis of SMA or exclude it as the underlying cause of the patient's symptoms. This test is especially valuable in cases where the clinical presentation suggests SMA but additional confirmation is needed for accurate diagnosis and appropriate management of the condition.
SMA (Spinal Muscular Atrophy) Microdeletion, Amniotic Fluid Price
Metropolis Healthcare is a leading diagnostics centre and pathology lab in India equipped with the latest state-of-the-art technologies that provides the SMA (Spinal Muscular Atrophy) Microdeletion, Amniotic Fluid with a clear pricing structure.
The SMA (Spinal Muscular Atrophy) Microdeletion, Amniotic Fluid Price in Bhandup is ₹ 6,360 .
We are committed to deliver accurate and quality results from the best labs in India with complete transparency regarding test cost and turnaround time. No matter where you are, we strive to offer patients high-quality service that is affordable and accessible.
Frequently Asked Questions
This test detects microdeletions in the SMN1 gene associated with Spinal Muscular Atrophy (SMA).
The Spinal Muscular Atrophy (SMA) Microdeletion test is done for the following reasons: • To confirm or rule out a clinical diagnosis of SMA • To assess the risk of SMA in families with a history of the condition • To provide guidance for family planning or prenatal decision-making
The Spinal Muscular Atrophy (SMA) Microdeletion test is recommended for individuals who • Have symptoms consistent with SMA. • Have a family history of SMA. • Are at increased risk due to consanguinity or previous affected pregnancies. This test is also recommended for carrier testing in healthy individuals planning a pregnancy.
If the test results show a homozygous deletion of exon 7 in the SMN1 gene, it confirms a diagnosis of Spinal Muscular Atrophy (SMA). Further genetic counselling and follow-up tests may be recommended to assess the severity of the condition and provide appropriate management options.
To conduct this test: • A sample of amniotic fluid (15–20 ml) is collected from pregnant individuals or a blood sample (3–5 ml) is collected from the mother. • The samples are sent to the laboratory for analysis.
Before the test: • Amniotic fluid samples need to be collected by a healthcare professional using invasive techniques. • A duly signed consent form as per PCPNDT guidelines is mandatory. • For blood samples, no specific preparations are required. However, it is important to inform your doctor about any medications you are taking. Please reach out to your healthcare provider for any specific requirements.
Other tests that may be ordered alongside the Spinal Muscular Atrophy (SMA) Microdeletion test include: • Genetic testing for other genetic conditions related to motor neuron diseases • Prenatal screening tests such as ultrasound or amniocentesis for assessing fetal well-being
SMA deletion testing, SMN1 gene deletion analysis
Spinal Muscular Atrophy (SMA) is a genetic disorder characterised by progressive muscle weakness and atrophy. It is caused by the loss of survival motor neuron 1 (SMN1) gene function, resulting in the degeneration of motor neurons. SMA affects voluntary muscle movement and can vary in severity from mild to severe forms.
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