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HelpTest Code IMSNP Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Ordering Guidance
First tier testing for a diagnosis of Charcot-Marie-Tooth disease type 1 is available; order PMPDD / PMP22 Gene, Large Deletion/Duplication Analysis, 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 hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease
Identifying variants within genes known to be associated with HMSN or CMT 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 87 genes associated with hereditary motor and sensory neuropathy: AARS1, ABCD1, AIFM1, ARSA, ATP1A1, ATP7A, BAG3, BSCL2, C1orf194, CHCHD10, CNTNAP1, COX10, COX6A1, CTDP1, DGAT2, DHH, DNM2, DYNC1H1, EGR2, ERCC8, FAM126A, FBLN5, FGD4, FIG4, FMR1, GALC, GAN, GARS1, GBF1, GDAP1, GJB1, GLA, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS1, LAMA2, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MORC2, MPV17, MPZ, MTMR2, NDRG1, NEFH, NEFL, PEX7, PHYH, PLEKHG5, PLP1, PMP2, PMP22, PNKP, POLG, PRPS1, PRX, RAB7A, SACS, SBF1, SBF2, SCO2, SH3TC2, SLC12A6, SLC25A46, SORD, SOX10, SURF1, TDP1, TFG, TRIM2, TRPV4, TSFM, TTR, TUBB3, TWNK, TYMP, VPS13D, and YARS1. For more information see Method Description and Targeted Genes and Methodology Details for Inherited Motor and Sensory Neuropathy Gene Panel.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hereditary motor and sensory neuropathy.
Special Instructions
Reporting Name
Motor and Sensory Neuropathy PanelSpecimen 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.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
81448
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| IMSNP | Motor and Sensory Neuropathy Panel | 103728-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617585 | Test Description | 62364-5 |
| 617586 | Specimen | 31208-2 |
| 617587 | Source | 31208-2 |
| 617588 | Result Summary | 50397-9 |
| 617589 | Result | 82939-0 |
| 617590 | Interpretation | 69047-9 |
| 618181 | Additional Results | 82939-0 |
| 617591 | Resources | 99622-3 |
| 617592 | Additional Information | 48767-8 |
| 617593 | Method | 85069-3 |
| 617594 | Genes Analyzed | 48018-6 |
| 617595 | Disclaimer | 62364-5 |
| 617596 | Released By | 18771-6 |
Testing Algorithm
For more information see Hereditary Peripheral Neuropathy Diagnostic Algorithm