CYTOGENOMIC MEDICAL LABORATORY - Servicii
- Deletii ale genei SHOX
 - Detectia genei SRY
 - Disomie uniparentala cromozomii 7/14
 - Disomie uniparentala cromozomii 15
 - Fibroza chistica gena CFTR mutatia DF508
 - Fibroza chistica gena CFTR cele mai comune 39 mutatii
 - Fragile X (FRAXA)
 - Hipocondroplazie gena FGFR3 muta?iile C1620A ?i C1620G
 - Microdeletii cromozomul Y (AZF)
 - Rinichi polichistic gena PKD 1 ?i PKD 2
 - Screening 20 sindroame microdeletii prenatal/postnatal
 - Screening microdeletii/microduplicatii subtelomerice ale cromozomilor
 - Sindrom DiGeorge (MLPA)
 - Sindrom Duchenne (MLPA)
 - Sindrom Russel Sylver/Beckwith Wiedemann (MLPA)
 - Surditate ereditara gena GJB2 mutatia 35delG
 - Surditate ereditara gena GJB2 mutatia W24X
 - Surditate ereditara genele GJB2, GJB3, GJB6 cele mai comune mutatii
 - Talasemia gena HBB cele mai commune 22 mutatii
 - Test Rapid QF PCR: aneuploidii 13,18,21,X,Y
 - Test Rapid Extins MLPA: aneuploidii 13,18,21 si analiza 20 sindroame microdeletii
 - Test QF PCR extins: trisomii 13,15,16,18,21,22, triploidie, aneuploidii X,Y
 - NEXT GENERATION SEQUENCING Secventierea o singura gena*
 - NEXT GENERATION SEQUENCING Secventiere panel gene*
 - NEXT GENERATION SEQUENCING Secventierea întregului exom*
 - Test screening myBRCA gene BRCA1 si BRCA2 *
 - Test screening myBRCAHiRisk 26 gene* (cancer sân, ovar, colorectal, endometrial, melanom, pancreatic, gastric)
 - Factorul II (protrombina)
 - Factorul V Leiden
 - Factorul XIII Val34Leu
 - Gena ACE polimorfism I/D
 - MTHFR 677 si 1298 (2 mutatii)
 - PAI 1 4G/5G
 - Harmony Roche: T13, T18, T21, sex fetal, aneuploidii X, Y
 - Harmony Roche: T13, T18, T21
 - Prader Willi/Angelman metilare
 - Retard mental X linkat
 - Charcot Marie Tooth gena GJB1 (X linkat)
 - Charcot Marie Tooth gena PMP22
 - Boala cardiaca congenitala MLPA
 - Atrofia musculara spinala (SMA) (exonii 7 si 8 ai genelor SMN1 si SMN2) certificate IVD (in vitro diagnostic)
 - Acondroplazie gena FGFR3 mutatiile G1138A si G1138C
 - Fragmentare ADN, sperma (metoda TUNEL)/morfologie sperma
 - Comparatie pentru determinarea contaminarii intre tesutul fetal si sangele matern
 - FISH cu probe specific prenatal/postnatal
 - Cariotip sânge High Resolution (cuplu)
 - Cariotip sânge High Resolution minim 45 zile de la avort
 - Cariotip sânge fetal
 - Cariotip maduva osoasa/blastice periferice
 - Cariotip produs conceptie (avort)
 - Cariotip clasic Lichid amniotic/Vilozitati coriale (CVS) si Test Rapid Extins MLPA care include: aneuploidii 13,18,21 si analiz
 - Cariotip clasic Lichid amniotic/Vilozitati coriale (CVS): include si QF PCR (13,18,21,X,Y) cu 24 ore timp de raspuns
 - Cariotip molecular (SNP microarray) Sange periferic
 - Alfa fetoproteina Lichid amniotic
 - Cariotip clasic Lichid amniotic/Vilozitati coriale (CVS)
 - Triplu Test (AFP, uE, free beta HCG)
 - Cariotip molecular (SNP microarray) Lichid amniotic/Vilozitati coriale (CVS) include si QF PCR (13,18,21,X,Y) cu 24 ore timp d
 - Pachet Complet: PlGF Screening si Dublu Test (PAPP A, free beta HCG)
 - PlGF Screening pentru evaluare risc preeclampsie (saptamana 11 13)
 - Dublu Test (PAPP A, free beta HCG)
 - Determinare Rh fetal din sange matern
 - PrenatalSafe Karyo Plus Genoma aneuploidiile tuturor cromozomilor si dezechilibre segmentale + 9 microdeletii
 - VeraGene NIPD Genetics: T13, T18, T21, sex fetal, aneuploidii X,Y, panel de 4 microdeletii + 50 boli monogenice
 - Veracity NIPD Genetics: T13, T18, T21, sex fetal, aneuploidii X,Y, panel de 4 microdeletii
 - Detectie ADN de CMV (Citomegalovirus)*
 - Detectie ADN de EBV (Epstein Barr Virus)*
 - Detectie ADN de HSV 1 ?i 2 (Herpes Simplex Virus)*
 - Detectie ADN de VZV (Varicella Zoster Virus)*
 - Detectie ADN de Toxoplasma Gondii minim 4 saptamâni de la seroconversie
 - Rubella Virus
 - PANEL BOLI CU TRANSMITERE SEXUALA
 - SCREENING NEONATAL EXTINS
 - Pachet complet : include Pachet Standard MS/MS, Fibroza chistica, Galactozemie, Hiperplazie congenitala suprarenala
 
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| Adresa: | Bucuresti, Str FLOREASCA, 35 | 
| Reper: | Langa Spitalul de Urgenta Floreasca | 
| Tel: | 
													021 233 13 54 021 233 13 55 021 233 13 56  | 
											
| Fax: | 021 233 13 57 | 
| Web: | www.cytogenomic.ro | 
| Facebook: | 
Program
| LUNI: | 09:00-17:00 | 
| MARTI: | 09:00-17:00 | 
| MIERCURI: | 09:00-17:00 | 
| JOI: | 09:00-17:00 | 
| VINERI: | 09:00-17:00 | 
| SAMBATA: | INCHIS | 
| DUMINICA: | INCHIS | 

	
 

