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Prenatal ve Postnatal
Application Region Art.Nr.
1p36 deletion syndrome 1p36 P147
Angelman UBE3A, MTHFR, GABRB3, AXIN1 P336
Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS) 11p15 region, H19, IGF2, CDKN1C, KCNQ1 ME030
Broad subtelomeric screening All subtelomeres P036
Broad subtelomeric screening All subtelomeres P069
Broad subtelomeric screening All subtelomeres P070
Centromeric screening Centromeres P181
Centromeric screening Centromeres P182
Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1. P259
Congenital Heart Disease 25 different regions P424-basic research
DiGeorge syndrome 22q11 P250
Down syndrome, Edwards syndrome, Patau syndrome Chr. 13, 18, 21, X, Y P095
Fragile X FMR1, AFF2 ME029
Idiopathic growth retardation SHOX-Xp22 P018
Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA P061
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos Various P064
Mental retardation, Wolf-Hirschlorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki Various P096
Mental retardation, x-linked (XLMR) Chromosome X P106
Microdeletion follow-up 2p16, Langer Giedion, 9q22, WAGR, 15q24, 17q21 P371
Microdeletion follow-up Sotos, DiGeorge, Rubinstein-Taybi, NF1 P372
Microdeletion follow-up 1p36, 3q29, Wolf-Hirschlorn, Cri du Chat, Phelan-McDermid P373
Microdeletion follow-up 7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT P374
Microdeletion syndromes Various P245
Microdeletion syndromes Various P297
Neurofibromatosis NF1 17q11.2 P122
Ocular malformations, hereditary PAX6 11p13, SOX2 3q26, WT1, 11p13 P219
Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 22q13.3, SHANK3, ACR, RABL2B P188
Prader Willi syndrome (PWS), Angelman syndrome (AS) PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2 ME028
Prenatal microdeletion screening Various P290
Smith-Magenis syndrome 17p11.2 P369
Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13 P021
Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13 P060
Subtelomeric screening 2p, 3p, 6p, 8p P208
Subtelomeric screening 9p, 10p, 11p, 12p P230
Subtelomeric screening 17p, 18p, 19p, 20p P249
Subtelomeric screening 1q, 2q, 3q, 4q P264
Subtelomeric screening 5q, 6q, 7q, 8q P277
Subtelomeric screening 9q, 10q, 11q, 12q P286
Subtelomeric screening 13q, 14q, 15q, 16q P291
Subtelomeric screening 17q, 18q, 19q, 20q. P320
Subtelomeric screening 22q11, 22q13 P356
Subtelomeric screening 4p, 5p telomeres and 13q,14q centromere regions P358
Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS) TRPS1, EXT1, 8q24 P228
VLCAD/Primary Carnitine ACADVL, SLC22A5 P076
Williams-Beuren syndrome WBS criticial region 7q11.23 P029

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