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
| SCREENING PRENATAL NON-INVAZIV: Analiza ADN-ului fetal liber circulant în sange matern |
Localizare
Unde ne gasiti
| 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 |
