Days Set Up
Monday - Thursday
Analytic Time

10 days

MiChart Code
Spinal Muscular Atrophy Deletion
Soft Order Code
SMN1D

Test Updated:

Synonyms

SMN1DS
SMN1-2 Ex 7,8 MLPA Shadow
SMN1D
SMN1-2 Ex 7,8 MLPA Analysis
Spinal Muscular Atrophy Types I, II, III
Survival Motor Neuron 1
Infantile Muscular Atrophy
Werdnig-Hoffmann Disease

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

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Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

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Test Overview

Test Methodology

MLPA probes hybridize to target regions of SMN1 and SMN2 genes and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and SMN1 and SMN2 copy numbers are generated.

Test Usage

Detection of the copy number (deletions/duplications) of the SMN1 and SMN2 genes in patients with a clinical diagnosis of Spinal Muscular Atrophy.

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Offsite

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood

Billing Information

CPT Code
81329
Pro Fee Code
 
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.