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 – ABI 3730XL (Applied Biosystems). 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 |
P029 | Williams-Beuren syndrome (WBS); 7q11.23 duplication syndrome | WBS criticial region 7q11.23 | Intellectual Disability; Microdeletions; Multiple Congenital Anomalies |
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 |
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 |
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 |
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 |
P100 | Hypertrophic cardiomyopathy, familial | MYBPC3 11p11.2 | Cardiovascular |
P418 | Hypertrophic cardiomyopathy | MYH7 14q11.2 | Cardiovascular |
P405 | Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP) | CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1 | Microdeletions; Neuromuscular; Newborn |
P406 | Charcot-Marie-Tooth neuropathy type 2B (CMT2B); type 2D (CMT2D); type 2F (CMT2F); type 2L (CMT2L); Sensory neuropathy type IA, hereditary | RAB7A 3q21.3; GARS 7p15.1; HSPB1 7q11.23; HSPB8 12q24.23; SPTLC1 9q22.31 | Neuromuscular |