Hereditary Neuropathies Panel

Hereditary Neuropathies Panel

  • Hereditary neuropathies are a group of disorders that affect the peripheral nervous system. They are divided into four major subcategories: motor and sensor, sensory, motor, and sensory and autonomic neuropathy. Symptoms vary according to the type but may include numbness, tingling, pain in the feet and hands, weakness, loss of muscle bulk, sweating, and insensitivity to pain (1). There are no standard treatments and most treatments are mainly symptomatic and supportive such as pain medication and physical therapy (2). Genetic testing can help establish the genetic cause of the neuropathy, provide information about the prognosis, and confirm the inheritance patter (3). It can also allow for accurate genetic counseling, and assess risks for the affected individuals and their family members.
  • Genes (115): AARS, ADCK3, AIFM1, ALDH3A2, APTX, ARHGEF10, ATL1, ATM, ATP7A, BAG3, BICD2, BSCL2, C10orf2, CACNB4, CCT5, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FGF14, FIG4, FXN, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HARS, HEXA, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, ITPR1, KARS, KCNA1, KCNC3, KIAA0196, KIF1A, KIF1B, KIF5A, L1CAM, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MRE11A, MTMR2, MTTP, MYH14, NDRG1, NEFL, NGF, NIPA1, NTRK1, PDK3, PEX7, PHYH, PLEKHG5, PLP1, PMP22, PNPLA6, POLG, PRKCG, PRNP, PRPS1, PRX, RAB7A, REEP1, SACS, SBF1, SBF2, SCN9A, SETX, SH3TC2, SIL1, SLC12A6, SLC1A3, SLC5A7, SOX10, SPAST, SPG11, SPG20, SPG21, SPG7, SPTBN2, SPTLC1, SPTLC2, TDP1, TFG, TRIM2, TRPV4, TTBK2, TTPA, TTR, WNK1, YARS, ZFYVE26, and ZFYVE27
    Test Code: 5055
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Hereditary Neuropathies Panel
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81324×1, 81403×2, 81404×8, 81405×10, 81406×13, 81407×4, 81408×2, 81479×75
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Epilepsy Panel
  • References:
    1. http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm
    2. http://www.brainfacts.org/diseases-disorders/diseases-a-to-z-from-ninds/hereditary-neuropathies/
    3. http://www.ncbi.nlm.nih.gov/pubmed/26502764

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