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Test 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 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.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: None

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) 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days

Additional information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.

 

Specimen Type: Extracted DNA

Container/Tube:

Preferred: Screw Cap Micro Tube, 2 mL with skirted conical base

Acceptable: Matrix tube, 1 mL

Collection Instructions:

1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated

Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.


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 (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

SOD1 Gene, Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
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 days

Test 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
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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