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Test Code 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.

Reporting Name

SOD1 Gene, Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

14 to 21 days

Specimen Retention Time

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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