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HelpTest ID: SOD1Z SOD1 Gene, Full Gene Analysis, Varies
Ordering Guidance
The recommended first tier test for amyotrophic lateral sclerosis is C9ORF / C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies.
Targeted testing (also called site-specific or known variants testing) is available for variants identified in the SOD1 gene. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Testing for the SOD1 gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Neurology Patient Information
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.
Useful For
Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS)
Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in one gene associated with amyotrophic lateral sclerosis: SOD1. For more information see Method Description.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for amyotrophic lateral sclerosis.
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
SOD1 Gene, Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with progressive loss of upper and lower motor neurons. ALS typically presents with progressive muscle wasting, hyperreflexia, and spasticity. Death from respiratory failure usually occurs within 3 to 5 years of disease onset.
The SOD1 gene is the second most commonly known cause of familial ALS (fALS) and is reported to occur in around 12% of fALS cases. Variants in SOD1 are believed to cause ALS through a toxic gain-of-function caused by aggregation of misfolded SOD1 protein. Although most cases of SOD1-related fALS are inherited in an autosomal dominant manner, rare cases with autosomal recessive inheritance have been reported.
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
2. Roggenbuck J, Quick A, Kolb SJ. Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians. Genet Med. 2017;19(3):267-274
Day(s) Performed
Varies
Report Available
14 to 21 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81404
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SOD1Z | SOD1 Gene, Full Gene Analysis | 49710-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617741 | Test Description | 62364-5 |
| 617742 | Specimen | 31208-2 |
| 617743 | Source | 31208-2 |
| 617744 | Result Summary | 50397-9 |
| 617745 | Result | 82939-0 |
| 617746 | Interpretation | 69047-9 |
| 618193 | Additional Results | 82939-0 |
| 617747 | Resources | 99622-3 |
| 617748 | Additional Information | 48767-8 |
| 617749 | Method | 85069-3 |
| 617750 | Genes Analyzed | 48018-6 |
| 617751 | Disclaimer | 62364-5 |
| 617752 | Released By | 18771-6 |
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