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Nörogenetik ve Mental Retardasyon
Application Region Art.Nr.
Aicardi-Goutieres Syndrome RNASEH2A, B & C genes, TREX1, SAMHD1 P388
Alpha-Thalassemia/Mental Retardation ATRX ; Xq13 P013
Alzheimer disease, early-onset APP 21q21.3 P170-improved
Alzheimer’s disease, Pick’s disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy MAPT 17q21 P275
Angelman UBE3A, MTHFR, GABRB3, AXIN1 P336
Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE ADAM22, GPR98, KCNA1, KCNA4, KCNAB1, LGI1, PDYN P408
Broad subtelomeric screening All subtelomeres P036
Broad subtelomeric screening All subtelomeres P070
Cerebral Cavernous Malformations (CCM) CCM 7q21 P130
Cerebral Cavernous Malformations (CCM) CCM 7q21 P131
Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) CMT1/HNPP region, 17p11.2 P033
Charcot-Marie-Tooth disease (CMT2A/1B) MFN2 1p36.2, MPZ 1q22 P143
Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1. P259
Congenital nystagmus Xq26 (NYS1 locus), FRMD7 P269
Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome TH 11p15.5, GCH114q22, SGCE 7q21 P099
Down syndrome, Edwards syndrome, Patau syndrome Chr. 13, 18, 21, X, Y P095
Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2 P034
Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2 P035
Dyslexia DCDC2 6p22, ROBO1 3q12, ROBO2 3q12, NRSN1 6p22 P150
Epilepsy (EFMR) PCDH1 P330
Epilepsy SCN1a 2q24.3 P137
Episodic ataxia 2, Familial hemiplegic migraine CACNA1A P279
Hearing loss GJB 1p35.1 (connexin 31), WFS1 4p16.1 (Wolframin) P163
Hereditary Spastic Paraplegias (HSPs) region SPAST 2p22, NIPA1 15q11 P211
Hereditary spastic paraplegia (HSP or SPG) SPG11 or KIAA1840 15q21.1 P306
Hereditary spastic paraplegias (HSPs) REEP1 (SPG31) 2p11.2, SPG7 16q24.3 P213
Kabuki syndrome MLL2 gene P389
Kallmann syndrome, x-linked KAL1 Xp22 P132
Kallmann syndrome FGFR1 8p11.2, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3 P133
Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies LMNA 1q21.2-1q21.3 P048
Leigh Syndrome X-chromosome P427-new
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
Primary Microcephaly MCPH1, ASPM, CDK5RAP2, CENPJ, STIL P355
RETT syndrome MECP2, Xq28 P015
Recessive Ataxias SETX, APTX, FXN. P316
Retinitis Pigmentosa RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4 P235
Retinitis pigmentosa (RP) CHM-RP2-RPGR P366
Spastic paraplegia, hereditary (HSP) SPG3A 14q21, SPAST 2p22 P165
Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13 P021
Spinal Muscular Atrophy (SMA) SMN1, SMN2, 5q13 P060
Startle disease, Hyperekplexia GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1 P274
Subtelomeric screening 17q, 18q, 19q, 20q. P320
Subtelomeric screening 7p, 15q-cen, 16p, 21q-cen, 21q P365
Tay-Sachs Disease HEXA 15q23 P199
Tuberous Sclerosis TSC2 16p13.3 P046
Tuberous Sclerosis TSC1 9q34 P124
Tuberous sclerosis TSC2 gene, 16p13.3 P337
Walker-Warburg Syndrome LARGE, FKTN, POMT2 P326
Williams-Beuren syndrome WBS criticial region 7q11.23 P029
Wilson disease ATP7B 13q14.3 P098
epilepsy, mental retardation 16p13.2 GRIN2A, 12p13.1 GRIN2B P410
mental retardation MEF2C 5q14.3, FOXG1 14q12 P395
Leukodystrophy LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 P071
Limb girdle muscular dystrophies (LGMD) DYSF 2p13 P268
Limb-girdle muscular dystrophy (LGMD) SGCA, SGCB, SGCD, SGCG, FKRP P116
Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA P061
Menkes disease ATP7A Xq13.3 P104
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos Various P064
Mental retardation, x-linked (XLMR) Chromosome X P106
Microdeletion syndromes Various P245
Microdeletion syndromes Various P297
Neurofibromatosis type 2 (NF2) NF2 22q12 P044
Neurofibromatosis NF1 17q11.2 P081
Neurofibromatosis NF1 17q11.2 P082
Neurofibromatosis NF1 17q11.2 P122
Parkinson disease, familial PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36 P051
Parkinson disease, familial PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12 P052
Pelizaeus-Merzbacher disease (PMD) PLP1 Xq22 P022
Pendred syndrome SLC26A4 7q31 P280
Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 22q13.3, SHANK3, ACR, RABL2B P188
Pitt-Hopkins-like syndrome 2 NRXN1 P379

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