Spinal Muscular Atrophy (SMA) Carrier Screen

The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

INTERPRETATION

SMA 2+0 RISK VARIANT

Smn1

Smn2

TECHNICAL RESULTS

*Important Information on Lab Test Processing Times: Ulta Lab Tests is committed to informing you about the processing times for your lab tests processed through Quest Diagnostics. Please note that the estimated processing time for each test, indicated in business days, is based on data from the past 30 days across the 13 Quest Diagnostics laboratories for each test. These estimates are intended to serve as a guide and are not guarantees. Factors such as laboratory workload, weather conditions, holidays, and the need for additional testing or maintenance can influence actual processing times. We aim to offer estimates to help you plan accordingly. Please understand that these times may vary, and processing times are not guaranteed. Thank you for choosing Ulta Lab Tests for your laboratory needs.

The Spinal Muscular Atrophy (SMA) Carrier Screen test contains 1 test with 5 biomarkers.

Clinical Significance

Spinal Muscular Atrophy (SMA) Carrier Screen - Carrier screening for Spinal Muscular Atrophy (SMA). SMA is one of the most common autosomal recessive diseases, characterized by the degeneration of the anterior horn cells of the spinal cord which leads to symmetric proximal muscle weakness. The survival motor neuron (SMN1) gene has been shown to be responsible for 99% of SMA cases. An adjacent homologous gene, SMN2, encodes a protein identical to that of SMN1. SMA is caused by a critical reduction in the total amount of functional SMN protein. Although a diagnosis of SMA depends upon SMN1 gene copy number, a less severe SMA phenotype may be associated with an increased number of functional SMN2 gene copies. This test is appropriate to determine the SMN1 copy number and to refine the risk that the patient is a silent carrier (also known as 2+0 carrier) by determining the presence or absence of the g.27134T>G variant when SMN1 copy number is equal to two. This test will also assess the SMN2 copy number when SMN1 copy number is equal to zero or one, or when it is equal to two in the presence of the g.27134T>G variant.

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