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-MECP2 RETT syndrome MECP2, Xq28
P018-SHOXCE Idiopathic growth retardation SHOX-Xp22
P022 -PLP1 Pelizaeus-Merzbacher disease (PMD) PLP1 Xq22
P026-Sotos Sotos syndrome NSD1, 5q35
P029-WBS Williams-Beuren syndrome WBS criticial region 7q11.23
P033-CMT1CE Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) CMT1/HNPP region, 17p12
P036-Subtelomeres Mix 1CE Subtelomeric testing All subtelomeres
P049-SLC6A8 - ABCD1 Creatine transporter, x-linked SLC6A8, Xq28
P054-FOXL2-TWIST1 Ophthalmogenetic anomalies FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143
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
P069-Subtelomeres Mix 2ACE TO BE DISCONTINUED All subtelomeres
P070-Subtelomeres Mix 2BCE Subtelomeric testing All subtelomeres
P075-TCF4-FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome TCF4, FOXG1
P080-Craniofacial Craniofacial disorders FGFRs, TWIST, MSX2, ALX4, RUNX2
P096-MR-2 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 Epilepsy SCN1A 2q24.3
P138-SLC2A1-STXBP1 Glut1 deficiency syndrome SLC2A1, STXBP1
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
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 Rett syndrome, atypical CDKL5 Xp22, NTNG1 1p13.3, ARX Xp21.3
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 Syndromes1ACE Microdeletion syndromes Various
P249-Human Telomere-8 Subtelomeric testing 17p, 18p, 19p, 20p
P250-DiGeorgeCE DiGeorge syndrome 22q11
P264-Human Telomere-9 Subtelomeric testing 1q, 2q, 3q, 4q
P267-Dandy-Walker Dandy-Walker Malformation (DWM) ZIC1, ZIC4 3p2, VLDLR 9p24
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
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