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 7 (UPD7); Russel-Silver syndrome (RSS); Uniparental disomy 14 (UPD14); Temple syndrome (TS); Kagami-Ogata syndrome (KOS) 6q24; 7p12; 7q32; 14q32
P013-ATRX Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) ATRX Xq21.1
P026-Sotos Sotos syndrome NSD1 5q35; NFIX 19p13
P029-WBS Williams-Beuren syndrome (WBS); 7q11.23 duplication 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 1CEMAIL Subtelomeric testing All subtelomeres
P046-TSC2 Tuberous sclerosis complex (TSC) TSC2 16p13.3
P057-FANCD2-PALB2 Fanconi anemia (FA) FANCD2 3p25.3; PALB2 16p12.2
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P064-Microdeletion Syndromes1BCEMA Microdeletion syndromes; Microduplication syndromes Various
P067-PTCH1 Gorlin syndrome; 9q22.3 Microdeletion PTCH1 9q22.3
P070-Subtelomeres Mix 2BCEMAIL Subtelomeric testing All subtelomeres
P073-IKBKG Incontinentia pigmenti IKBKG Xq28; IKBKGP Xq28; G6PD Xq28; CTAG1A Xq28
P075-TCF4-FOXG1 Pitt-Hopkins syndrome (PTHS); RETT syndrome, congenital variant TCF4 18q21.2; FOXG1 14q12
P080-Craniofacial Craniofacial disorders; FGFR-related craniosynostosis syndromes; Saethre-Chotzen syndrome; Potocki-Shaffer syndrome; Frontonasal dysplasia; Cleidocranial dysplasia; Craniofrontonasal syndrome FGFR1 8p12; FGFR2 10q26.13; FGFR3 4p16.3; TWIST1 7p21.1; MSX2 5q35.2; ALX4 11p11.2; ALX3 1p13.3; ALX1 12q21.31; RUNX2 6p12.3; EFNB1 Xq13.1
P091-CFTRCEMAIL Cystic fibrosis; Congenital absence of the vas deferens (CAVD) CFTR 7q31.2
P095-AneuploidyCECOMAIL Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome Chr. 13, 18, 21, X, Y
P096-MR-2 To be retired – Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki Various
P113-FANCB Fanconi anemia complementation group B FANCB Xp22
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1CE 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 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-EDAR-EDARADD Ectodermal dysplasia, x-linked (XLHED) EDA Xq13.1; EDAR 2q12.3; EDARADD 1q42.3
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 9p13.3
P238-DNAH5 Primary ciliary dyskinesia (PCD) DNAH5 5p15.2
P245-Microdeletion Syndromes1ACEMAIL Microdeletion syndromes; Microduplication syndromes Various
P249-Human Telomere-8 Subtelomeric testing 17p, 18p, 19p, 20p
P250-DiGeorgeCECOIL 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
P257-TERT-DKC1 Dyskeratosis congenita (DC) DKC1 Xq28
P259-RPS6KA3 Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1.
P260-PALB2-RAD50-RAD51C-RAD51DCE Susceptibility to breast and ovarian cancer; Susceptibility to other cancer types; Fanconi-anemia type N RAD50 5q31.1; PALB2 16p12.1; RAD51D 17q12; RAD51C 17q22
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