Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing
Recommended test for hereditary neuropathies or CMT subtype other than CMT1/CMT1A. To confirm a diagnosis of CMT1/CMT1A, PMP22 gene deletion/duplication studies should be performed first.
Massively Parallel Sequencing
Lavender (EDTA) or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
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)
Genes tested: 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.
|Component Test Code*||Component Chart Name||LOINC|
|2012152||CMT Sequencing Specimen||31208-2|
|2012153||CMT Sequencing Interpretation||35464-7|
- Hereditary Motor Neuropathy (dHMN)
- Hereditary Neuropathy
- Hereditary Sensory and Autonomic Neuropathy (HSAN)
- Hereditary Sensory Neuropathy (HSN)