Product NameApplicationRegion
ME029-FMR1/AFF2 Fragile X FMR1, AFF2
P015-MECP2CE RETT syndrome, classic; RETT syndrome, atypical; MECP2 duplication syndrome; X-linked intellectual disability syndrome MECP2 Xq28; CDKL5 Xp22.13; ARX Xp21.3; NTNG1 1p13.3
P022 -PLP1 Pelizaeus-Merzbacher disease (PMD); Spastic paraplegia type 2 (SPG2) PLP1 Xq22.2
P025-Canavan Canavan disease ASPA 17p13
P041-ATM-1CE;MA;IL Ataxia-telangiectasia (AT); Predisposition to develop cancer, hereditary ATM 11q22.3
P042-ATM-2CE;MA;IL Ataxia-telangiectasia (AT); Predisposition to develop cancer, hereditary ATM 11q22.3
P044-NF2 Neurofibromatosis type 2 (NF2) NF2 22q12.2
P046-TSC2 Tuberous sclerosis complex (TSC) TSC2 16p13.3
P049-SLC6A8 - ABCD1 X-linked creatine deficiency syndrome; X-linked adrenoleukodystrophy (X-ALD); X-linked hydrocephalus Xq28 region; SLC6A8 Xq28; ABCD1 Xq28
P051-Parkinson mix 1CE Parkinson disease PARK2 6q26; SNCA 4q22.1; PINK1 1p36.12; PARK7 1p36.23; ATP13A2 1p36.13; LRRK2 12q12
P052-Parkinson mix 2CE Parkinson disease PARK2 6q26; UCHL1 4p13; GCH1 14q22.2; LRRK2 12q12; ATP13A2 1p36.13
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 with autonomic disease, autosomal dominant (ADLD); Pelizaeus-Merzbacher disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) LMNB1 5q23.2; PLP1 Xq22.2; NOTCH3 19p13.12
P075-TCF4-FOXG1 Pitt-Hopkins syndrome (PTHS); RETT syndrome, congenital variant TCF4 18q21.2; FOXG1 14q12
P081-NF1 mix 1CE;MA;IL Neurofibromatosis type 1 (NF1) NF1 17q11.2
P082-NF1 mix 2CE;MA;IL Neurofibromatosis type 1 (NF1) NF1 17q11.2
P088-Oligodendroglioma 1p-19q Oligodendroglioma 1p; 19q; IDH1 2q33.3; IDH2 15q26.1; CDKN2A 09p21.3; CDKN2B 09p21.3; CDKN2C 1p33
P098-Wilson disease Wilson disease ATP7B 13q14.3
P099-GCH1-TH-SGCE Dopa-responsive dystonia, autosomal dominant; Dopa-responsive dystonia, autosomal recessive; Myoclonus-dystonia TH 11p15.5; GCH 14q22.2; SGCE 7q21.3
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 type 1 NF1 17q11.2
P124-TSC1CE Tuberous sclerosis complex (TSC) TSC1 9q34.13
P130-CCM mix-1 Cerebral cavernous calformations (CCM) KRIT1 7q21.2; CCM2 7p13
P131-CCM mix-2 Cerebral cavernous malformations (CCM) KRIT1 7q21.2; PDCD10 3q26.1
P137-SCN1A Dravet syndrome; SCN1A-related seizure disorders; Hemiplegic migraine type 3, familial (FHM3) SCN1A 2q24.3
P138-SLC2A1-STXBP1CE GLUT1 deficiency syndrome; STXBP1 encephalopathy with epilepsy; Ohtahara 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 familial APP 21q21.3
P187-HPE Holoprosencephaly (HPE) SHH 7q36.3; ZIC2 13q32.3; SIX3 2p21; TGIF 18p11.31; FBXW11 5q35.1; PTCH1 9q22.32; GLI2 2q14.2; TRAPPC10 21q22.3
P189-CDKL5/ARX/FOXG1CE RETT syndrome, atypical; X-linked infantile spasm syndrome; FOXG1 syndrome CDKL5 Xp22.13; NTNG1 1p13.3; ARX Xp21.3; FOXG1 14q12
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, SPG7 16q24
P226-SDHCE Paragangliomas-Pheochromocytoma syndrome, hereditary (PGL/PCC) SDHD 11q23.1; SDHB 1p36.1; SDHC 1q23.3; SDHAF1 19q13.12; SDHAF2 11q12.2
P251-NB mix 1 Neuroblastoma Chromosomes 1, 3 and 11
P252-NB mix 2 Neuroblastoma Chromosomes 2 (MYCN) and 17
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 3q24; ZIC4 3q24; VLDLR 9p24.2; FOXC1 6p25.3
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
P279-CACNA1A Episodic ataxia 2, Familial hemiplegic migraine CACNA1A
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