Neurological
Product NameApplicationRegion
ME011-MMR Mismatch repair genes (MMR) MLH1, MSH2, MSH6, MLH3, MSH3, PMS2, MGMT
ME012-MGMT-IDH1-IDH2 Gliomas MGMT, IDH1, IDH2
ME029-FMR1/AFF2 Fragile X FMR1, AFF2
P015-MECP2 RETT syndrome MECP2, Xq28
P022 -PLP1 Pelizaeus-Merzbacher disease (PMD) PLP1 Xq22
P025-Canavan Canavan disease ASPA, 17p13
P041-ATM-1CE Ataxia-Telangiectasia (AT) ATM 11q23
P042-ATM-2CE Ataxia-Telangiectasia (AT) ATM 11q23
P044-NF2 Neurofibromatosis type 2 (NF2) NF2 22q12
P046-TSC2 Tuberous Sclerosis TSC2 16p13.3
P049-SLC6A8 - ABCD1 Creatine transporter, x-linked SLC6A8, Xq28
P051-Parkinson mix 1 Parkinson disease, familial PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36
P052-Parkinson mix 2 Parkinson disease, familial PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12
P059-Dystonia Dystonia PRKRA; THAP1; TOR1A; ATP1A3
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P063-FHIT-WWOX Diverse tumour types, epileptic encephalopathy FHIT (3p14.2) and WWOX (16q23.1)
P071-LMNB1-PLP1-NOTCH3 Leukodystrophy LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12
P075-TCF4-FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome TCF4, FOXG1
P081-NF1 mix 1CE Neurofibromatosis NF1 17q11.2
P082-NF1 mix 2CE Neurofibromatosis NF1 17q11.2
P088-Oligodendroglioma 1p-19q Oligodendroglioma 1p, 19q, IDH1/2, CDKN2A/2B
P098-Wilson Wilson disease ATP7B 13q14.3
P099-GCH1-TH-SGCE Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome TH 11p15.5, GCH114q22, SGCE 7q21
P103-DPYD Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22
P105-Glioma-2 Glioma, malignant EGFR, TP53, PTEN + various other
P107-Neurometabolic Neurometabolic disorders ASPA, MLC1, MLYCD, D2HGDH, L2HGDH
P120-PANK2/PLA2G6 Neurodegeneration with brain iron accumulation (NBIA) PANK2 20q13, PLA2G6 22q13
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1 Tuberous Sclerosis TSC1 9q34
P130-CCM mix-1 Cerebral Cavernous Malformations (CCM) CCM 7q21
P131-CCM mix-2 Cerebral Cavernous Malformations (CCM) CCM 7q21
P137-SCN1A Epilepsy SCN1A 2q24.3
P138-SLC2A1-STXBP1 Glut1 deficiency syndrome SLC2A1, 1p34.2; STXBP1, 9q34.1
P165-HSP Spastic paraplegia, hereditary (HSP) SPG3A 14q21, SPAST 2p22
P166-KCNQ2 Benign familial neonatal convulsion (BFNC) KCNQ2 20q13.33
P170-APP Alzheimer disease, early-onset APP 21q21.3
P187-HPE Holoprosencephaly (HPE) PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11
P189-CDKL5 Rett syndrome, atypical CDKL5 Xp22, NTNG1 1p13.3, ARX Xp21.3
P197-KCNQ3 Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2) KCNQ3 8q24.22; CHRNA4 20q13.33; EPM2A 6q24.3; NHLRC1 6p22.3; CHRNB2 1q21.3; KCNQ1 11p55.5-4
P199-HEXA Tay-Sachs Disease HEXA 15q23
P211-HSP region Hereditary Spastic Paraplegias (HSPs) region SPAST 2p22, NIPA1 15q11
P213-HSP mix-2 Hereditary spastic paraplegias (HSPs) REEP1 (SPG31) 2p11.2, SPG7 16q24.3
P226-SDH Paragangliomas (PGL) SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3
P251-NB mix 1 Neuroblastoma 1p36, 3p22/3p21.3 and 11q23
P252-NB mix 2 Neuroblastoma 2p24.1/MYCN, 2q33, 17p13/TP53, 17q
P253-NB mix 3 Neuroblastoma Chromosomes 4, 7, 9, 12, 14
P254-PSEN1 Alzheimer's disease (AD) PSEN1 14q24.2
P267-Dandy-Walker Dandy-Walker Malformation (DWM) ZIC1, ZIC4 3p2, VLDLR 9p24
P274-SLC6A5/GLRA1/GLRB Startle disease, Hyperekplexia GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1
P275-MAPT-GRN Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy MAPT 17q21
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