Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
Recommended initial test for suspected CMT1 or CMT1A. PMP22 gene deletion/duplication analysis is performed first. If negative or inconclusive, testing reflexes to sequencing of genes related to CMT and hereditary neuropathies.
Multiplex Ligation-dependent Probe Amplification/Massively Parallel Sequencing
Within 2 weeks, if reflexed add 3-6 weeks
New York DOH Approval Status
Lavender (EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Deletion/Duplication analysis is performed on all samples. If no large deletions or duplications are detected and/or results do not explain the clinical scenario, then sequencing of the Charcot-Marie-Tooth and Related Hereditary Neuropathy genes will be added. Additional charges apply. If reflexed, an additional 3-6 weeks is required to complete testing.
GENE TESTED BY MLPA: PMP22
GENES TESTED BY SEQUENCING: AARS, AIFM1, ATL1, ATP7A, BAG3, BICD2, BSCL2, CCT5, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1*, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HEXA, HINT1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN9A, SETX*, SH3TC2, SLC12A6, SLC5A7, SPTLC1*, SPTLC2, TDP1, TFG, TRIM2, TRPV4, TTR, WNK1, YARS
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
81324; if reflexed, add 81448
|Component Test Code*||Component Chart Name||LOINC|
|2012156||Charcot-Marie-Tooth Reflex Specimen||31208-2|
|2012158||Charcot-Marie-Tooth (CMT) Reflex Interp||35464-7|
- Hereditary Motor Neuropathy (dHMN)
- Hereditary Neuropathy
- Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
- Hereditary Sensory and Autonomic Neuropathy (HSAN)
- Hereditary Sensory Neuropathy (HSN)