Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

SPINAL MUSCULAR ATROPHY DIAGNOSTIC

General Information

Lab Order Codes:

SMAE

Synonyms:

SMA; Werdnig-Hoffmann disease (SMA type 1); Kugelber-Welander (Type III); Proximal Spinal Muscular Atrophies.

CPT Codes:

81400 – Molecular Pathology procedure, Level 1

Test Includes:

SMA type I, SMA type II, SMA type III.

Logistics

Test Indications:

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.

Lab Testing Section:

Anatomic Pathology - Sendouts

Referred to:

Ohio State University – Molecular Pathology Laboratory (Thomas Prior’s Lab) Test SMAMUT.

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Monday – Thursday by 1500

Turnaround Time:

Within 14 days

Special Instructions:

Complete Requisition and Consent forms. Submit completed forms with the specimen to the laboratory. ** Draw Monday – Thursday by 15:00 only

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

5 mL blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture, invert specimen gently to mix.

Special Processing:

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

Patient Preparation:

None

Sample Rejection:

Unlabeled specimens; incorrect tube; mislabeled or unlabeled specimens

Interpretive

Reference Range:

Interpretive report

Critical Values:

N/A

Limitations:

N/A

Methodology:

Polymerase Chain Reaction (PCR)

References:

Ohio State University – The Molecular Pathology Laboratory July 2012
614-366-4557 Fax: 614-366-4589

Updates:

2/11/2013: CPT update



  Lab Test Directory
    Chemistry
    Coagulation
    Flow/Immunology
    Hematology
    Microbiology/ Virology
    Other Fluids
    Pathology
    Serology
    Transfusion Services
    Urine/Stool

  Search Lab Test Directory
    List All Documents

  Lab Staff

  E-mail Lab Services