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 7 (UPD7); Russel-Silver syndrome (RSS); Uniparental disomy 14 (UPD14); Temple syndrome (TS); Kagami-Ogata syndrome (KOS) Chr. 6q24; 7p12; 7q32; 14q32
P013-ATRX Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) ATRX Xq21.1
P015-MECP2CE;IL 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
P026-Sotos Sotos syndrome NSD1 5q35; NFIX 19p13
P029-WBS Williams-Beuren syndrome (WBS); 7q11.23 duplication syndrome WBS criticial region 7q11.23
P036-Subtelomeres Mix 1CE;MA;IL Subtelomeric testing All subtelomeres
P046-TSC2CE;improved 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
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P064-Microdeletion Syndromes1BCE;MA;IL Microdeletion syndromes; Microduplication syndromes Various
P070-Subtelomeres Mix 2BCE;MA;IL Subtelomeric testing All subtelomeres
P075-TCF4-FOXG1 Pitt-Hopkins syndrome (PTHS); RETT syndrome, congenital variant TCF4 18q21.2; FOXG1 14q12
P095-AneuploidyCE;CO;MA;IL Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome Chr. 13, 18, 21, X, Y
P103-DPYD Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22
P106-MRX Mental retardation, X-linked (XLMR) Chr. X
P122-NF1-area Neurofibromatosis type 1 NF1 17q11.2
P124-TSC1CE;IL Tuberous sclerosis complex (TSC) TSC1 9q34.13
P141-NIPBL-1 Cornelia de Lange syndrome (CdLS) NIPBL 5p13.2
P142-NIPBL-2 Cornelia de Lange syndrome (CdLS) NIPBL 5p13.2
P147-1p36 1p36 Deletion syndrome Chr. 1p36
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
P188-22q13 Phelan-Mcdermid syndrome 22q13.3; SHANK3 22q13.33; ACR 22q13.33; RABL2B 22q13.33
P189-CDKL5/ARX/FOXG1CE;IL RETT syndrome, atypical; X-linked infantile spasm syndrome; FOXG1 syndrome CDKL5 Xp22.13; NTNG1 1p13.3; ARX Xp21.3; FOXG1 14q12
P233-MID1 Opitz G/BBB syndrome, X-linked MID1 Xp22.2
P245-Microdeletion Syndromes1ACE;MA;IL Microdeletion syndromes; Microduplication syndromes Various
P249-Human Telomere-8 to be discontinued - Subtelomeric testing Chr. 17p; 18p; 19p; 20p
P250-DiGeorgeCE;CO;IL DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS) 22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q
P259-RPS6KA3 Coffin-Lowry Syndrome; Renpenning syndrome RPS6KA3 Xp22.12; PQBP1 Xp11.23
P264-Human Telomere-9 Subtelomeric testing Chr. 1q; 2q; 3q; 4q
P267-Dandy-Walker Dandy-Walker malformation (DWM) ZIC1 3q24; ZIC4 3q24; VLDLR 9p24.2; FOXC1 6p25.3
P275-MAPT-GRN Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy MAPT 17q21
P277-Human Telomere-10 to be discontinued Subtelomeric testing Chr. 5q; 6q; 7q; 8q
P297-Microdeletion-2 Microdeletion syndromes Various
P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3
P320-Human Telomere-13 Subtelomeric testing Chr. 17q; 18q; 19q; 20q
P321-VPS13B mix 1 Cohen syndrome VPS13B 8q22.2
P322-VPS13B mix 2 Cohen syndrome VPS13B 8q22.2
P324-22q11 22q11 22q11
P325-OCA2 Oculocutaneous albinism type 1 (OCA1); Oculocutaneous albinism type 2 (OCA2) OCA2 15q13.1; TYR 11q14.3
P326-LARGE1 Walker-Warburg syndrome LARGE 22q12.3; FKTN 9q31.2; POMT2 14q24.3
P330-PCDH19 Epilepsy and mental retardation restricted to females (EFMR) PCDH19 Xq22.1
P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300 22q13.2
P336-UBE3A Angelman syndrome (AS) UBE3A 15q11.2; MTHFR 1p36.22; GABRB3 15q12
P337-TSC2 ConfirmationCE;improved Tuberous sclerosis complex (TSC) TSC2 16p13.3
P339-SHANK3 Autism spectrum disorder; Phelan-McDermid syndrome SHANK3 22q13.33
P340-EHMT1 9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome. EHMT1
P343-Autism-1 Autism 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13
P355-Microcephaly Microcephaly MCPH1 8p23.1; ASPM 1q31.3; CDK5RAP2 9q33.2; CENPJ 13q12.12; STIL 1p33
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