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26194 Spinal Muscular Atrophy, SMA (516)

Spinal Muscular Atrophy, SMA (516)
Test Code: SMASO
Synonyms/Keywords

​​​SMN1 Copy-number Analysis, Arthron-ryposis Multiplex Congenita (Prenatal SMA), Congenital Axonal Neurotherapy, Dubowitz Disease (SMA Type II), Kugelberg-Welander Disease (SMA Type III), Werdnig-Hoffmann Disease (SMA Type I), 450010

Useful For

Carrier testing for individuals in the general population, or individuals with a family history of SMA, or couples who are planning a pregnancy or who are already pregnant. Pediatric or adult diagnostic testing when a diagnosis of SMA is suspected. Test 452140, Prenatal Spinal Muscular Atrophy (SMA) Testing, should be used for prenatal diagnosis for at-risk pregnancies, when both parents are carriers or when severe joint contractures are found on fetal ultrasound.

Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)		Pediatric Minimum Volume
(no repeat)
​Whole Blood​Yellow Top Tube (ACD-A) ​EDTA Lavender Top Tube (LTT)​10 mL​​
Collection Processing Instructions

​Samples for SMN1 copy number analysis should be shipped to Integrated Genetics on the same day as the sample is drawn.

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole Blood​Ambient​4 days
Rejection Criteria
Frozen Specimen
​Quantity not Sufficient for Analysis
​Blood older than 4 days
​Hemolysis
​ACD-B tube
Interference

​SMN1 copy number analysis does not detect individuals who are carriers of SMA as a result of germline mosaicism; or small intragenic variants within the SMN1 gene; or variants in genes other than SMN1.

False-positive or false-negative results may occur for reasons that include genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
Integrated Genetics​​Monday through Friday​7-13 days​Quantitative polymerase chain reaction (qPCR)
Reference Lab
Integrated Genetics
Interpretation

​Interpretative Report

Synonyms/Keywords

​​​SMN1 Copy-number Analysis, Arthron-ryposis Multiplex Congenita (Prenatal SMA), Congenital Axonal Neurotherapy, Dubowitz Disease (SMA Type II), Kugelberg-Welander Disease (SMA Type III), Werdnig-Hoffmann Disease (SMA Type I), 450010

Ordering Applications
Ordering ApplicationDescription
​Centricity​Spinal Muscular Atrophy (516)
​COM​Spinal Muscualr Atrophy, SMA
​Cerner​Spinal Muscular Atrophy (516)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)		Pediatric Minimum Volume
(no repeat)
​Whole Blood​Yellow Top Tube (ACD-A) ​EDTA Lavender Top Tube (LTT)​10 mL​​
Collection Processing

​Samples for SMN1 copy number analysis should be shipped to Integrated Genetics on the same day as the sample is drawn.

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole Blood​Ambient​4 days
Rejection Criteria
Frozen Specimen
​Quantity not Sufficient for Analysis
​Blood older than 4 days
​Hemolysis
​ACD-B tube
Interference

​SMN1 copy number analysis does not detect individuals who are carriers of SMA as a result of germline mosaicism; or small intragenic variants within the SMN1 gene; or variants in genes other than SMN1.

False-positive or false-negative results may occur for reasons that include genetic variants, technical handling, blood transfusions, bone marrow transplantation, mislabeling of samples, or erroneous representation of family relationships.

Useful For

Carrier testing for individuals in the general population, or individuals with a family history of SMA, or couples who are planning a pregnancy or who are already pregnant. Pediatric or adult diagnostic testing when a diagnosis of SMA is suspected. Test 452140, Prenatal Spinal Muscular Atrophy (SMA) Testing, should be used for prenatal diagnosis for at-risk pregnancies, when both parents are carriers or when severe joint contractures are found on fetal ultrasound.

Interpretation

​Interpretative Report

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
Integrated Genetics​​Monday through Friday​7-13 days​Quantitative polymerase chain reaction (qPCR)
Reference Lab
Integrated Genetics
For billing questions, see Contacts
For most current information refer to the Marshfield Laboratory online reference manual.