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Neurology

CGC Mutation Panels

  • Thrombophilia and Warfarin Pharmacogenetics

Molecular Diagnostics

  • Alzheimer disease (APOE; alleles 2, 3 and 4)
  • Alzheimer disease (sequence analysis of exons 16 and 17 of APP gene)
  • Alzheimer disease (sequence analysis of PSEN1 gene)
  • Alzheimer disease (sequence analysis of PSEN2 gene)
  • Amyotrophic Lateral Sclerosis (mutations on SOD1 gene)
  • Antipsychotic and Antidepressive pharmacogenetics
  • Autism related rearrangements (deletions/duplications of 15q11-13, 16p11, 22q13)
  • Becker Muscular Dystrophy (DMD gene)
  • CADASIL (gene NOTCH3, exons 2 to 6 and 11)
  • Charcot-Marie-Tooth disease type 1A (microsatellite analysis)
  • Charcot-Marie-Tooth disease type 1B (sequence analysis of MPZ gene)
  • Charcot-Marie-Tooth disease type 1C (sequence analysis of LITAF gene)
  • Charcot-Marie-Tooth disease type 1E (sequence analysis of PMP22 gene)
  • Charcot-Marie-Tooth disease type 2B1 (sequence analysis of LMNA gene)
  • Charcot-Marie-Tooth disease type 2E/1F (sequence analysis of NEFL gene)
  • Charcot-Marie-Tooth disease type 2I/2J (sequence analysis of MPZ gene)
  • Charcot-Marie-Tooth disease type 2K/4A (sequence analysis of GDAP1 gene)
  • Charcot-Marie-Tooth disease X-linked (sequence analysis of GJB1 gene)
  • Dejerine-Sottas disease
  • Familial Amyloidotic Polyneuropathy (TTR gene, Met30)
  • Familial Spastic Paraplegia type 3, SPG3 (sequence analysis of SPG3 gene)
  • Familial Spastic Paraplegia type 4, SPG4 (sequence analysis of SPG4 gene)
  • Friedreich Ataxia
  • Huntington’s disease, HD (TP-PCR)
  • Leber’s Hereditary Optic Neuropathy (mutation detection)
  • Mitochondrial Encephalomyopathy (sequence analysis of hot-spots - MELAS syndrome)
  • Myotonia Congenita AR, Thomsen disease (CLCN1)
  • Myotonic Dystrophy type 2 (ZNF9 gene)
  • Neurofibromatosis type I (deletion/duplication analysis of NF1 gene)
  • Neurofibromatosis type I (NF1 gene)
  • Neurofibromatosis type II (NF2 gene)
  • Oculopharyngeal Muscular Dystrophy (PABPN1 gene)
  • Parkinson disease 2, autosomal recessive juvenile (PARK 2 gene)
  • Parkinson disease PARK1 (sequence analysis of SNCA gene)
  • Parkinson disease PARK2 (sequence analysis of PARKIN gene)
  • Parkinson disease PARK8 (sequence analysis of LRRK2 gene)
  • Spinal Muscular Atrophy (deletion/duplication analysis of SMN1 and SMN2 genes)
  • Spinocerebellar Ataxia Type 3 (SCA3), ATXN3 gene (TP-PCR)
  • Steinert disease or Myotonic dystrophy
  • Thrombophilia marker Antithrombin III (sequence analysis of SERPINC1 gene)
  • Thrombophilia marker APOE (alleles 2, 3 and 4)
  • Thrombophilia marker Factor II (G20210A)
  • Thrombophilia marker Factor V Leiden (R506Q)
  • Thrombophilia marker FGB (-455G/A)
  • Thrombophilia marker MTHFR (C677T and A1298C)
  • Thrombophilia marker PAI-1 (4G/5G)
  • Thrombophilia marker Protein C deficiency (sequence analysis of PROC gene)
  • Thrombophilia marker Protein S deficiency (sequence analysis of PROS1 gene)
  • Thrombophilia and Warfarin Pharmacogenetics See CGC Mutation Panel
  • Tomaculous Neuropathy (HNPP) (dosage analysis of PMP22 gene)
  • Tomaculous Neuropathy (HNPP) (microsatellite analysis)
  • Tuberculous Sclerosis (sequence analysis of TSC1 and TSC2 genes)
  • Tuberous Sclerosis (sequence analysis of TSC1 gene)
  • Tuberous Sclerosis (sequence analysis of TSC2 gene)