Test Code MNDP Inherited Motor Neuron Disease Gene Panel, Varies
Ordering Guidance
First tier testing for a diagnosis of dementia or amyotrophic lateral sclerosis is C9ORF / C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies, which is included with this test but is also available separately.
For individuals with both ALS and evidence of dementia, consider AFTDP / Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies,
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Customization of this panel and single gene analysis for any gene present on this panel are 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 motor neuron disease
Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation (NGS) Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
Motor Neuron Disease Gene PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reference Values
An interpretive report will be provided.
C9orf72 Repeats:
Normal alleles (reference):<20 GGGGCC repeats
Indeterminate alleles: 20-100 GGGGCC repeats
Pathogenic alleles:* >100 GGGGCC repeats
*The exact cutoff for pathogenicity is currently undefined. Although additional studies are needed to confirm if the cutoff for pathogenicity is 100 repeats, most individuals affected with a C9orf72-related disorder have C9orf72 hexanucleotide repeat expansions with hundreds to thousands of repeats.
Day(s) Performed
Varies
Report Available
21 to 28 daysPerforming Laboratory

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
81443
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
MNDP | Motor Neuron Disease Gene Panel | 103951-0 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
617650 | Test Description | 62364-5 |
617651 | Specimen | 31208-2 |
617652 | Source | 31208-2 |
617653 | Result Summary | 50397-9 |
617654 | Result | 82939-0 |
617655 | Interpretation | 69047-9 |
618186 | Additional Results | 82939-0 |
617656 | Resources | 99622-3 |
617657 | Additional Information | 48767-8 |
617658 | Method | 85069-3 |
617659 | Genes Analyzed | 48018-6 |
617660 | Disclaimer | 62364-5 |
617661 | Released By | 18771-6 |
Testing Algorithm
For information see Inherited Motor Neuron Disease and Dementia Testing Algorithm.