Multiple Congenital Anomalies
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
ME030-BWS/RSS Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS) 11p15 region, H19, IGF2, CDKN1C, KCNQ1
ME032-UPD7-UPD14 Uniparental disomy 6q24, 7p12, 7q32 and 14q32
P013-ATRX Alpha-Thalassemia/Mental Retardation ATRX ; Xq13
P026-Sotosimproved Sotos syndrome NSD1, 5q35
P029-WBS Williams-Beuren syndrome WBS criticial region 7q11.23
P031-FANCA mix 1 Fanconi Anemia (FA) FANCA 16q24.3
P032-FANCA mix 2 Fanconi Anemia (FA) FANCA 16q24.3
P036-Subtelomeres Mix 1CE Subtelomeric testing All subtelomeres
P046-TSC2 Tuberous Sclerosis TSC2 16p13.3
P057-FANCD2-PALB2 Fanconi anemia (FA) FANCD2. 3p25.3, PALB2 16p12
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P064-MR-1 Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos Various
P067-PTCH1 Gorlin syndrome PTCH1 9q22.3
P069-Subtelomeres Mix 2ACE Subtelomeric testing All subtelomeres
P070-Subtelomeres Mix 2BCE Subtelomeric testing All subtelomeres
P073-IKBKG Incontinentia Pigmenti Xq28; IKBKG, NEMO, IKBKGP
P075-TCF4-FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome TCF4, FOXG1
P080-Craniofacial Craniofacial disorders FGFRs, TWIST, MSX2, ALX4, RUNX2
P091-CFTRCE Cystic Fibrosis CFTR 7q31.2
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
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1 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
P153-EYA1 Branchio-oto-renal dysplasia syndrome (BOR) EYA1 8q13.3.
P154-GPC3-GPC4 Simpson-Golabi-Behmel syndrome (SGBS) GPC3, GPC4, Xq26
P179-Limb-1 Limb malformations GLI3 7p14.1, HOXD13 2q31.1, ROR2 9q22.31
P180-Limb-2 Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24
P183-EDA Ectodermal dysplasia, x-linked (XLHED) EDA Xq12-q13.1
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
P201-CHARGE CHARGE syndrome CHD7 8q12.2
P208-Human Telomere-6 Subtelomeric testing 2p, 3p, 6p, 8p
P212-DBA Diamond-Blackfan anemia (DBA) RPL11, RPL5, RPL35A, RPS26, RPS17 and RPS19
P228-TRPS1-EXT1 Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS) TRPS1, EXT1, 8q24
P230-Human Telomere-7 Subtelomeric testing 9p, 10p, 11p, 12p
P231-FGF10-FGFR2 Autosomal dominant lacrimoauriculodentodigital (LADD) FGF10 5p13, FGFR2 10q26
P232-FGD1 Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome FGD1 Xp11.21
P233-MID1 OPITZ syndrome MID1 Xp22
P237-DNAI1 Primary ciliary dyskinesia (PCD) DNAI1 9p21
P238-DNAH5 Primary ciliary dyskinesia (PCD) DNAH5 5p15
P245-Microdeletion Syndromes1ACE Microdeletion syndromes Various
P249-Human Telomere-8 Subtelomeric testing 17p, 18p, 19p, 20p
P250-DiGeorgeCE DiGeorge syndrome 22q11
P257-TERT-DKC1 Dyskeratosis congenita (DC) DKC1 Xq28
P259-RPS6KA3 Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1.
P260-PALB2-RAD50-RAD51C-RAD51D Fanconi Anemia 5q31, 16p12, 17q12, 17q22
12
Newsletter  |  Home  |  Site map  |  Terms and Conditions  |  Search  |  Copyright © 2017 MRC-Holland