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HelpTest 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.
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.
Specimen Type
VariesSpecimen 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 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81443