Intellectual Disability
Product NameApplicationRegion
ME028-PWS/AS Prader Willi syndrome (PWS), Angelman syndrome (AS) PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
ME029-FMR1/AFF2 Fragile X FMR1, AFF2
ME032-UPD7-UPD14 Uniparental disomy 6q24, 7p12, 7q32 and 14q32
P013-ATRX Alpha-Thalassemia/Mental Retardation ATRX ; Xq13
P015-MECP2CE RETT syndrome MECP2, Xq28
P026-Sotos Sotos syndrome NSD1, 5q35
P029-WBS Williams-Beuren syndrome WBS criticial region 7q11.23
P036-Subtelomeres Mix 1CE Subtelomeric testing All subtelomeres
P046-TSC2 Tuberous Sclerosis TSC2 16p13.3
P049-SLC6A8 - ABCD1 Creatine transporter, x-linked SLC6A8, Xq28
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P064-Microdeletion Syndromes1BCE Intellectual Disability; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos Various
P070-Subtelomeres Mix 2BCE Subtelomeric testing All subtelomeres
P075-TCF4-FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome TCF4, FOXG1
P095-AneuploidyCE Down syndrome, Edwards syndrome, Patau syndrome Chr. 13, 18, 21, X, Y
P096-MR-2 Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki Various
P103-DPYDimproved Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22
P106-MRX Mental retardation, x-linked (XLMR) Chromosome X
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1CE Tuberous Sclerosis TSC1 9q34
P141-NIPBL-1 Cornelia de Lange syndrome (CDLS) NIPBL 5p13.2
P142-NIPBL-2 Cornelia de Lange syndrome (CDLS) NIPBL 5q13.1
P147-1p36 1p36 deletion syndrome 1p36
P187-HPE Holoprosencephaly (HPE) PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11
P188-22q13 Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 22q13.3, SHANK3, ACR, RABL2B
P189-CDKL5/ARX/FOXG1CE RETT syndrome, atypical CDKL5 Xp22.13, NTNG1 1p13.3, ARX Xp21.3
P208-Human Telomere-6 Subtelomeric testing 2p, 3p, 6p, 8p
P230-Human Telomere-7 Subtelomeric testing 9p, 10p, 11p, 12p
P233-MID1 OPITZ syndrome MID1 Xp22
P245-Microdeletion Syndromes1ACE Microdeletion syndromes Various
P249-Human Telomere-8 Subtelomeric testing 17p, 18p, 19p, 20p
P250-DiGeorgeCE DiGeorge syndrome 22q11
P259-RPS6KA3 Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1.
P264-Human Telomere-9 Subtelomeric testing 1q, 2q, 3q, 4q
P267-Dandy-Walker Dandy-Walker Malformation (DWM) ZIC1, ZIC4, VLDLR, FOXC1
P275-MAPT-GRN Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy MAPT 17q21
P277-Human Telomere-10 Subtelomeric testing 5q, 6q, 7q, 8q
P286-Human Telomere-11 Subtelomeric testing 9q, 10q, 11q, 12q
P291-Human Telomere-12 Subtelomeric testing 13q, 14q, 15q, 16q
P297-Microdeletion-2 Microdeletion syndromes Various
P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3
P320-Human Telomere-13 Subtelomeric testing 17q, 18q, 19q, 20q.
P321-VPS13B mix 1 Cohen syndrome VPS13B 8q22
P322-VPS13B mix 2 Cohen syndrome VPS13B 8q22
P325-OCA2 oculocutaneous albinism OCA2 15q12; TYR 11q14.3
P326-LARGE1 Walker-Warburg Syndrome LARGE, FKTN, POMT2
P330-PCDH19 Epilepsy (EFMR) PCDH19
P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300; 22q13.2
P336-UBE3A Angelman UBE3A, MTHFR, GABRB3
P337-TSC2 Tuberous sclerosis TSC2 gene, 16p13.3
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