Neurogenetics DNA Diagnosis
- Familial Amyotrophic Lateral Sclerosis (FALS; SOD1 mutation)
- Hypokalemic Periodic Paralysis (HOPP)
- Hyperkalemic Periodic Paralysis (HYPP)
- Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1)
- Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL, CLN2)
- Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, CLN3, Batten disease]
- Neurofibromatosis type 2 (NF2) [mutation screening; linkage]
- Norrie disease (ND)
- Tuberous Sclerosis (TSC1 and TSC2)
- Huntington disease (HD)
- Friederichs Ataxia (FA)
- Spinocerebellar ataxias: SCA1, SCA2, SCA6, SCA7
- Machado-Joseph disease (MJD; SCA3)
- Dentatorubral-pallidoluysian atrophy (DRPLA)
- Paternity
- chromosome 1p allele loss
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