Teste genetice

Incepand din anul 2015 SCJU din Craiova, prin CRGM Dolj, a devenit unitate regionala de implementare pentru: Programul național de sănătatea a femeii și copilului. VI.3 Subprogramul de sănătate a femeii. 3. prevenirea malformațiilor congenitale prin diagnostic pre- și postnatal și sfat genetic;

Metodele genetice disponibile în cadrul laboratorului de genetica sunt:

  • cariotiparea clasica
  • arrayCGH (Hibridizarea Genomica Comparativa bazata pe tehnologie microarray)
  • PCR si Real-Time qPCR
  • secventierea capilară (Sanger)
  • analiza de fragmente ADN (ex.: MLPA, QF-PCR).

In plus, in cadrul Cabinetului de Genetica Medicala al CRGM Dolj se integrează rezultatele screening-ului prenatal (S11 – S19+6 zile) și
se acordă consultația de specialitate și sfatul genetic.

TESTE genetice disponibile:

Array-CGH (microarray-based comparative genomic hybridisation). Analizorul genetic folosit – NimbleGen MS 200 Microarray Scanner (Roche). Lame microarray CGH cu design ISCA
SurePrint G3 GCH ISCA SurePrint G3 ISCA CGH + SNP
Notă: Începând din luna martie 2019 vom genera rezultate folosind lame Oxford Gene Technology

Secvențiere capilara (Sanger) – pentru următoarele gene:
BRCA1, BRCA2, CACNA1A, CDKL5, CFTR, FGFR1, FOXG1, GABRG2, GBA, GJB2, GJB6, GLA, MECP2, PAH, SCN1A, SCN1B, SCN2B, SLC2A1

QF-PCR (Quantitative Fluorescence-Polymerase Chain Reaction). Analizorul genetic folosit – ABI PRISM 3130xl (Applied Biosystems™)
detecția aneuploidiilor cromozomilor 13, 15, 16, 18, 21, 22, X și Y. 

MLPA (Multiplex Ligation-dependent Probe Amplification). Analizorul genetic folosit – CEQ 8000 (Beckman Coulter). Mai jos regasiti lista kit-urilor disponibile:
ITEM NO APPLICATION REGION/GENES CATEGORIES
ME029 Fragile X FMR1, AFF2 Intellectual Disability; Microdeletions; Neurological
P015 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 Intellectual Disability; Microdeletions; Neurological
P018 Leri-Weill dyschondrosteosis (LWD); Langer mesomelic dysplasia (LMD); Idiopathic short stature (ISS) SHOX Xp22.33/Yp11.32 Microdeletions; Newborn; Skeletal & Connective Tissue
P029 Williams-Beuren syndrome (WBS); 7q11.23 duplication syndrome WBS criticial region 7q11.23 Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P036 Subtelomeric testing All subtelomeres Intellectual Disability; Microdeletions; Multiple Congenital Anomalies; Newborn; Prenatal
P061 Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA Intellectual Disability; Microdeletions; Multiple Congenital Anomalies; Neurological; Neuromuscular
P064 Microdeletion syndromes; Microduplication syndromes Various Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P081 Neurofibromatosis type 1 (NF1) – Mix 1 NF1 17q11.2 Neurological; Predisposition to Cancer; Skin
P082 Neurofibromatosis type 1 (NF1) ) – Mix 2 NF1 17q11.2 Neurological; Predisposition to Cancer; Skin
P095 Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome Chr. 13, 18, 21, X, Y   Intellectual Disability; Multiple Congenital Anomalies; Newborn; Prenatal
P137 Dravet syndrome; SCN1A-related seizure disorders; Hemiplegic migraine type 3, familial (FHM3) SCN1A 2q24.3 Microdeletions; Neurological
P147 1p36 deletion syndrome 1p36 Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P245 Microdeletion syndromes; Microduplication syndromes – 1A Probemix Various Intellectual Disability; Microdeletions; Multiple Congenital Anomalies; Prenatal
P250 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 Intellectual Disability; Microdeletions; Multiple Congenital Anomalies; Newborn; Prenatal
P297 Microdeletion syndromes Various Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P343 Autism 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13  Intellectual Disability; Microdeletions; Multiple Congenital Anomalies; Neurological
P395 Mental retardation MEF2C 5q14.3, FOXG1 14q12 Intellectual Disability; Microdeletions; Neurological
P410 Epilepsy, mental retardation 16p13.2 GRIN2A, 12p13.1 GRIN2B Intellectual Disability; Neurological
P060 Spinal muscular atrophy (SMA) SMN1 5q13.2; SMN2 5q13.2 Carrier; Neuromuscular; Newborn; Prenatal
P034 Mix1 – Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD) DMD Xp21.1-p21.2 Carrier; Neuromuscular; Newborn; Prenatal
P035 Mix2 – Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD) DMD Xp21.1-p21.2 Carrier; Neuromuscular; Newborn; Prenatal
P091 Cystic fibrosis; Congenital absence of the vas deferens (CAVD) CFTR 7q31.2 Carrier; Lung; Multiple Congenital Anomalies; Newborn
P371 Microdeletion follow-up 2p16, Langer Giedion, 9q22, WAGR, 15q24, 17q21 Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P372 Microdeletion follow-up Sotos, DiGeorge, Rubinstein-Taybi, NF1 Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P373 Microdeletion follow-up 1p36, 3q29, Wolf-Hirschhorn, Cri du Chat, Phelan-McDermid Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P374 Microdeletion follow-up 7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT, 7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT Intellectual Disability; Microdeletions; Multiple Congenital Anomalies
P100 Hypertrophic cardiomyopathy, familial MYBPC3 11p11.2 Cardiovascular
P418 Hypertrophic cardiomyopathy MYH7 14q11.2 Cardiovascular