Spinal Muscular Atrophy (SMA) Prenatal Screen Copy Number Analysis - LG6635


Sunquest Code:ARMISCCoPath Code:NGS
Epic Code:LAB4909Epic Name:Send Outs Misc Test
Synonyms:SMA Screen; Carrier Screening; Prenatal or Preconception Carrier Screening for SMA
Methodology:Multiplex ligation-dependent probe amplification
CPT Code:81401
Turnaround Time:Samples are sent to the reference laboratory Mon-Sat; results are reported within 14 days.
Special Instructions:A Patient History for SMA form must accompany each sample. See Associated Links. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Compliance:

The performance characteristics of this test were validated by ARUP Laboratories, Inc. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Associated Links:

Patient History Form for SMA, Genetic Testing Consent Form



Collection Instructions

Specimen:Whole blood
Optimal Volume:3 mL
Minimum\Peds Volume:2 mL
Container:Purple (EDTA) (Yellow (ACD, Solution A) tube available from laboratory)
Causes for Rejection:Frozen specimen.


Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store at refrigerated temperature.
Shipping Instructions:Ship at refrigerated temperature to arrive within 2 days of collection. Do not freeze.
Test Performed at or Referral Lab Lab Sendouts  (ARUP)
Referral Lab number:2013436


Interpretive

Reference Range:By report.
Use:Diagnostic testing to confirm a suspected diagnosis of spinal muscular atrophy (SMA). Prenatal or preconception carrier screening for SMA in the general population. Carrier screening for reproductive partner of know SMA carrier. Carrier screening for parents of a child with a deletion of the SMN1 gene or other family history of SMA.


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