Microdeletions
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
ME030-BWS/RSS Beckwith-Wiedemann syndrome (BWS); Russell-Silver syndrome (RSS) 11p15 region, H19, IGF2, CDKN1C, KCNQ1
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
P018-SHOXCECOIL Leri-Weill dyschondrosteosis (LWD); Langer mesomelic dysplasia (LMD); Idiopathic short stature (ISS) SHOX Xp22.33/Yp11.32
P022 -PLP1 Pelizaeus-Merzbacher disease (PMD); Spastic paraplegia type 2 (SPG2) PLP1 Xq22.2
P026-Sotos Sotos syndrome NSD1 5q35; NFIX 19p13
P029-WBS Williams-Beuren syndrome (WBS); 7q11.23 duplication syndrome WBS criticial region 7q11.23
P033-CMT1CEMAIL Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP) CMT/HNPP region 17p12; KIF1b 1p36
P036-Subtelomeres Mix 1CEMAIL Subtelomeric testing All subtelomeres
P049-SLC6A8 - ABCD1 X-linked creatine deficiency syndrome; X-linked adrenoleukodystrophy (X-ALD); X-linked hydrocephalus Xq28 region; SLC6A8 Xq28; ABCD1 Xq28
P054-FOXL2-TWIST1 Ophthalmogenetic anomalies; Saethre-Chotzen syndrome (SCS); Blepharophimosis syndrome (BPES); Rieger syndrome; Ocular albinism type I FOXL2 3q22.3; TWIST1 7p21.1; FOXC1 6p25.3; FOXC2 16q24.1; ATR 3q23; PITX2 4q25; PISRT1 3q23; GPR143 Xp22.2
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P064-Microdeletion Syndromes1BCEMA Microdeletion syndromes; Microduplication syndromes Various
P070-Subtelomeres Mix 2BCEMAIL Subtelomeric testing All subtelomeres
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
P096-MR-2 To be retired – Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki Various
P106-MRX Mental retardation, x-linked (XLMR) Chromosome X
P122-NF1-area Neurofibromatosis NF1 17q11.2
P137-SCN1A Dravet syndrome; SCN1A-related seizure disorders; Hemiplegic familial migraine 3 (HFM3) SCN1A 2q24.3
P138-SLC2A1-STXBP1CE GLUT1 deficiency syndrome; STXBP1 encephalopathy with epilepsy; Ohtahara syndrome SLC2A1 1p34.2; STXBP1 9q34.1
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
P160-STS Steroid Sulfatase gene (STS) STS Xp22
P179-Limb-1 Limb malformations GLI3 7p14.1, HOXD13 2q31.1, ROR2 9q22.31
P184-JAG1 Alagille Syndrome (ALGS) JAG1 20p12.2
P185-Intersex Sex determination SOX9 17q24.3; NR5A1 9q33; WNT4 1p36.12; CXorf21 & NROB1 Xp21.2
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; X-linked infantile spasm syndrome; FOXG1 syndrome CDKL5 Xp22.13; NTNG1 1p13.3; ARX Xp21.3; FOXG1 14q12
P201-CHARGE CHARGE syndrome CHD7 8q12.2
P208-Human Telomere-6 Subtelomeric testing 2p, 3p, 6p, 8p
P219-PAX6 Ocular malformations, hereditary PAX6 11p13, SOX2 3q26, WT1, 11p13
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
P234-GATA3 - GATA4 Cardiac septal defects GATA4 8p23, GATA3 10p15
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
P264-Human Telomere-9 Subtelomeric testing 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 Subtelomeric testing 5q, 6q, 7q, 8q
P286-Human Telomere-11 Subtelomeric testing 9q, 10q, 11q, 12q
P289-LMX1B Nail patella syndrome (NPS) LMX1B 9q33
P291-Human Telomere-12 Subtelomeric testing 13q, 14q, 15q, 16q
P297-Microdeletion-2 Microdeletion syndromes Various
P304-IRF6-GRHL3 Van der Woude syndrome (VWS) IRF6, 1q32.2; GRHL3 1p36.11
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