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

T13, T18, T21, sex fetal, aneuploidii X,Y, panel de microdele?ii: sindroamele DiGeorge, dele?ia 1p36, Smith-Magenis, Wolf-Hirschhorn + 50 boli monogenice