Vyšetřované geny

• CMT :
  PMP22, MPZ, GJB1, SH3TC2, GDAP1, MFN2, HSPB1, HSPB8, RAB7, SPTLC1, SIMPLE, NDRG1, HINT1, DNM2, BSCL2
• PMD:
  PLP1, GJC2 (GJA12)
• NBS:
  NBN
• CCFDN:
  CTDP1
• X-MTM:
  MTM1
• ED MD:
  LMNA
• PCH1:
  EXOSC3
• Hyperekplexie:
  GLRA1
• DFNB:
  Marveld2 – DFNB49
  ESRRB – DFNB 35