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Lab Dept:
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Anatomic Pathology
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Test Name:
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SPINAL MUSCULAR ATROPHY DIAGNOSTIC
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General Information
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Lab Order Codes:
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SMAE
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Synonyms:
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SMA; Werdnig-Hoffmann disease (SMA type 1); Kugelber-Welander (Type III); Proximal Spinal Muscular Atrophies.
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CPT Codes:
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81400 – Molecular Pathology procedure, Level 1
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Test Includes:
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SMA type I, SMA type II, SMA type III.
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Logistics
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Test Indications:
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Spinal Muscular Atrophy is one of the most common genetic causes of death in childhood. It is inherited as an autosomal recessive gene, with an estimated carrier frequencies of 1 in 40-60 births. SMA is characterized by degeneration and loss of lower motor neurons. The gene responsible for SMA is on the long arm of chromosome 5(1,2). Up to 95% of all patients with SMA types 1 and 2 have a homozygous deletions SMN exon 7. Approximately 85% of those individuals with the less severe form of SMA (type 3) have a deletion in this region. Although the exact functional role of the SMA gene is unknown, detection of the absence of both copies of exon 7 of this gene can be used to confirm the SMA diagnosis in the majority of case.
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Lab Testing Section:
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Anatomic Pathology - Sendouts
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Referred to:
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Ohio State University – Molecular Pathology Laboratory (Thomas Prior’s Lab) Test SMAMUT.
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Monday – Thursday by 1500
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Turnaround Time:
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Within 14 days
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Special Instructions:
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Complete Requisition and Consent forms. Submit completed forms with the specimen to the laboratory. ** Draw Monday – Thursday by 15:00 only
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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5 mL blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture, invert specimen gently to mix.
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Special Processing:
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Lab Staff: Do Not centrifuge. Specimen should be sent in original collection container as whole blood. Specimens may be refrigerated up to 3 days prior to shipping. Ship at ambient temp on MON-THURS via overnight courier to arrive at Ohio State Pathology Lab on a weekday. Label tubes with patient's name, date of birth, date and time of collection.
Ship to:
Molecular Pathology
680 Ackerman Road, Room 449 Columbus, OH 43202
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Patient Preparation:
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None
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Sample Rejection:
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Unlabeled specimens; incorrect tube; mislabeled or unlabeled specimens
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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Polymerase Chain Reaction (PCR)
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References:
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Ohio State University – The Molecular Pathology Laboratory July 2012
614-366-4557 Fax: 614-366-4589
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Updates:
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2/11/2013: CPT update
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