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CURRENT TEST OFFERINGS
Chromosome 1p/19q allele loss (anaplastic oligodendroglioma markers)
Dopa Responsive Dystonia (DRD; GTP cyclohydrolase)
DRD-MD-TH MLPA
Dystonia (DYT1)
Myoclonus-Dystonia (SGCE)
Rapid Onset Dystonia Parkinsonism (ATP1A3)KNOWN MUTATION ONLY!
Parkinson, Park8 (LRRK2), autosomal dominant
Parkinson, Park2 (Parkin), autosomal recessive
Familial Amyotrophic
Lateral Sclerosis (FALS; SOD1 mutation)
Familial Amyotrophic Lateral Sclerosis 8 (ALS8)
ANG Mutations associated with Amyotrophic Lateral Sclerosis
Fabry Testing
Hereditary Sensory Neuropathy (HSN1, SPTLC1)
Hereditary Sensory and Autonomic Neuropathy (HSN2, HSAN)
Huntington
disease (HD)
Hyperkalemic Periodic Paralysis (HYPP, SCN4A)
Hypokalemic Periodic Paralysis (HOPP, CACNL1A3)
Hypokalemic Periodic Paralysis Type 2 (HOPP-2, SCN4A)
Neurofibromatosis type 2 (NF2) [mutation screening; linkage]
NEW MLPA-deletion/duplication
Neuronal Ceroid Lipofuscinoisis (NCL)
Norrie disease (ND)
Paternity & Identity Test
Tuberous Sclerosis (TSC1 and TSC2) - KNOWN MUTATION ONLY!