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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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)