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26194 Spinal Muscular Atrophy (481630)

Spinal Muscular Atrophy (481630)
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), SMA, 516

Test Components
SMN1 Gene
Useful For

This test is used for carrier screening for spinal muscular atrophy and diagnostic testing for individuals suspected of having spinal muscular atrophy.

To test fetal specimens, including cord blood, order Spinal Muscular Atrophy (SMA), Fetal Analysis [481651].

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

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)​8.5 mL​3 mL
​
Collection Processing Instructions

Do NOT Freeze

​​​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
​Hemolyzed Specimen
​Improper container 
Interference

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. 

Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
Integrated Genetics​​Monday through Friday​8 - 14 days
(In some cases, additional time may be required for confirmatory or reflex tests.) ​
Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR); reflex testing to SMN2 copy number analysis is performed for individuals with 0 copies of SMN1. For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).
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), SMA, 516

Test Components
SMN1 Gene
Ordering Applications
Ordering ApplicationDescription
​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)​8.5 mL​3 mL
​
Collection Processing

Do NOT Freeze

​​​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
​Hemolyzed Specimen
​Improper container 
Interference

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships. 

Useful For

This test is used for carrier screening for spinal muscular atrophy and diagnostic testing for individuals suspected of having spinal muscular atrophy.

To test fetal specimens, including cord blood, order Spinal Muscular Atrophy (SMA), Fetal Analysis [481651].

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

Test Components
SMN1 Gene
Interpretation

​Interpretative Report

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
Integrated Genetics​​Monday through Friday​8 - 14 days
(In some cases, additional time may be required for confirmatory or reflex tests.) ​
Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR); reflex testing to SMN2 copy number analysis is performed for individuals with 0 copies of SMN1. For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).
Reference Lab
Integrated Genetics
For billing questions, see Contacts
For most current information refer to the Marshfield Laboratory online reference manual.