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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 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 motor neuron disease

 

Identifying variants within genes known to be associated with motor neuron disease, 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 34 genes associated with motor neuron disease: ALS2, ANG, ANXA11, ASAH1, CCNF, CHCHD10, CHMP2B, DCTN1, ERBB4, FIG4, FUS, HEXB, HNRNPA1, HNRNPA2B1, KIF5A, MATR3, NEFH, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TIA1, TUBA4A, UBQLN2, VAPB, VCP, VRK1. A polymerase chain reaction-based assay is utilized to detect C9orf72 GGGGCC hexanucleotide repeat expansions. See Targeted Genes and Methodology Details for Inherited Motor Neuron Disease Gene Panel and Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for motor neuron disease.

Reporting Name

Motor Neuron Disease Gene Panel

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.

 

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 days

Specimen Retention Time

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 more information see Inherited Motor Neuron Disease and Dementia Testing Algorithm