Cytogenomic

ANALIZE

Programari
(004) 021.233.13.54 / 55 / 56
Luni-Vineri, 9:00-17:00

WHOLE GENOME ANALYSIS - targeted array ( BAC array CGH )

  • Cariotip Molecular (array-CGH ) Lichid amniotic: include si QF-PCR (13,18,21,X,Y) cu 24 ore timp de raspuns, AFP (prenatal)

5-21 zile

  • Cariotip Molecular (array-CGH ) Vilozitati coriale (CVS):  include si QF-PCR (13,18,21,X,Y) cu 24 ore timp de raspuns (prenatal)

5-21 zile

  • Cariotip Molecular (array-CGH ) Sange periferic: include si Cariotip clasic (postnatal)

5-21 zile



CITOGENETICA CLASIC PRENATAL/POSTNATAL

  • Cariotip clasic Lichid amniotic include si QF-PCR (13,18,21,X,Y) cu 24 ore timp de raspuns

10-21 zile

  • Cariotip clasic Vilozitati coriale (CVS) include si QF-PCR (13,18,21,X,Y) cu 24 ore timp de raspuns

10-21 zile

  • NOU Cariotip clasic Lichid amniotic / Vilozitati coriale (CVS) si Test Rapid Extins MLPA care include: aneuploidii 13, 18, 21 si analiza 13 sindroame microdeletii
10-21 zile
  • Cariotip produs de conceptie (avort)

14-28 zile

  • Cariotip sange fetal

10 zile

  • Cariotip sange High Resolution

10-21 zile

  • Cariotip sange High Resolution cuplu
10-21 zile
  • Cariotip maduva osoasa

10-21 zile

  • Cariotip blastice periferice

10-21 zile

  • FISH cu probe specifice prenatal

10-14 zile

  • FISH cu probe specifice postnatal

10-14 zile

  • FISH pt gene de fuziune in leucemii

10-21 zile

  • Fragmentare ADN, sperma(metoda TUNEL)

10-14 zile

  • FISH pt non disjunctie 13,18,21,X,Y, sperma

14-28 zile



SCREENING PRENATAL NON INVAZIV DIN SANGE MATERN

A. SCREENING BIOCHIMIC PENTRU SINDROMUL DOWN  SI ALTE ANOMALII CROMOZOMIALE (KRYPTOR)

  • Dublu Test (PAPP-A, free-beta HCG)

24 ore

  • NOU PlGF Screening pentru evaluare risc preeclampsie trimestrul I
7 zile
  • NOU Extins: PlGF Screening si Dublu Test (PAPP-A, free-beta HCG)
7 zile
  • Triplu Test ( AFP, uE, free-beta HCG)

7 zile

  • NOU PlGF Screening trimestrul II si III
7 zile
  • Alfa fetoproteina (AFP) Sange periferic

7 zile


B.
SCREENING DE ANALIZA A ADN-ULUI FETAL LIBER CIRCULANT IN SANGE MATERN (cffDNA)

  • Harmony Prenatal Test - Ariosa, Test pentru trisomiile 13,18,21,aneuploidii X,Y

7-14 zile

  • Determinare Rhesus (Rh) din sange matern

10-14 zile


MOLECULARE

  • NOU Test Rapid QF-PCR: aneuploidii 21,X,Y
24-48 ore
  • Test Rapid QF-PCR: aneuploidii 13, 18, 21, X, Y
24-48 ore
  • NOU Test Rapid Extins MLPA care include: aneuploidii 13, 18, 21 si analiza 13 sindroame microdeletii
48-72 ore
  • Gena ACE I/D polimorfism

7-10 zile

  • Acondroplazie gena FGFR3 mutatiile G1138A si G1138C

7-10 zile

  • Atrofia musculara spinala (SMA) (exonii 7 si 8 ai genelor SMN1 si SMN2) certificat IVD (In vitro diagnostic)

10-18 zile

  • NOU Charcot-Marie-Tooth gena PMP 22
10-18 zile
  • NOU Charcot-Marie-Tooth gena GJB 1
10-18 zile
  • Detectie ADN de CMV (Citomegalovirus) (din lichid amniotic, cvs, sange) - 18 saptam sarcina

7-14 zile

  • Detectie ADN de EBV (Epstein-Barr Virus) (din lichid amniotic, cvs, sange) - 18 saptam sarcina
7-14 zile
  • Detectie ADN de HSV 1 si 2 (Herpex Simplex Virus) (din lichid amniotic, cvs, sange) - 18 saptam sarcina
7-14 zile
  • Detectie ADN de VZV (Varicella Zoster Virus) (din lichid amniotic, cvs, sange) - 18 saptam sarcina
7-14 zile
  • Detectie ADN de Toxoplasma gondii  (din lichid amniotic, cvs, sange) - 18 saptam sarcina

7-14 zile

  • NOU Sindrom Duchenne MLPA
10-18 zile
  • Factorul II (protrombina)

7-10 zile

  • Factorul V Leiden

7-10 zile

  • Factorul XIII Val34Leu

7-10 zile

  • Fibroza chistica gena CFTR mutatia DF508

7-10 zile

  • Fibroza chistica gena CFTR cele mai comune 39 mutatii

7-10 zile

  • Fragile X (FRAXA)

10-15 zile

  • Hipocondroplazie gena FGFR3 mutatiile C1620A si C1620G

7-10 zile

  • Microdeletii cromozomul Y (AZF)

7-10 zile

  • MTHFR 677 si 1298  (2 mutatii)

7-10 zile

  • PAI 1 - 1 4G/5G

7-10 zile

  • Prader Willi/Angelman metilare

7-10 zile

  • NOU Retard mental X-linkat
10-18 zile
  • NOU Rinichi polichistic gena PKD 1 si PKD 2
10-18 zile
  • Rubella Virus

10-14 zile

  • NOU Screening 13 sindroame microdeletii postnatal/postnatal
7-18 zile
  • Screening 20 sindroame microdeletii postnatal

7-18 zile

  • Screening 20 sindroame microdeletii prenatal
7-18 zile
  • Screening microdeletii/microduplicatii subtelomerice ale cromozomilor

7-18 zile

  • Detectia genei SRY

7-10 zile

  • Surditate ereditara genele GJB2, GJB3, GJB6 cele mai comune mutatii

10-15 zile

  • Surditate ereditara mutatia 35delG ale genei GJB2

7-10 zile

  • Surditate ereditara mutatia W24X ale genei GJB2

7-10 zile


Screening Neonatal Extins (SNE)

  • Pachet Standard MS/MS 47 defecte de metabolizare a amninoacizilor, a acizilor grasi si organici
48-72 ore
  • 51 disfunctii Pachet complet: Include Pachet standard MS/MS + Hipotiroidism congenital + Galactozemie + Fibroza Chistica + Hiperplazia congenitala de suprarenala (17 OH - Progesteron)

3-7 zile


PACHETE SCREENING-URI GENETICE

  • Dublu Test (PAPP-A, free-beta HCG) + Fibroza Chistica (ΔF508) + Surditate Ereditara (35delG)

24 ore-10 zile

  • Dublu Test (PAPP-A, free-beta HCG) + Fibroza Chistica (ΔF508) + Surditate Ereditara (35delG) + Atrofie Musculara Spinala (SMA )

24 ore-18 zile

  • NOU Extins: PlGF Screening su Dublu Test(PAPP-A, free-beta HCG)
24 ore-7 zile
  • Fibroza Chistica (ΔF508) + Surditate Ereditara (35delG) + Atrofie Musculara Spinala (SMA ) + Fragile X (Fraxa)

10-18 zile

 

PACHET GENETIC PRODUS DE CONCEPTIE (AVORT) 1

  • Cariotip produs de conceptie (avort) + Detectie ADN de CMV (Citomegalovirus) + Detectie ADN de Toxoplasma gondii

14-28 zile

NOU PACHET GENETIC PRODUS DE CONCEPTIE (AVORT) 2

  • Cariotip produs de conceptie (avort) + Screening 13 sindroame microdeletii postnatal/postnatal

14-28 zile


PACHET INFERTILITATE FEMEI

  • Cariotip sange High Resolution + Panel trombofilie (Factorul II + Factorul V Leiden + MTHFR 677 si 1298)  + Fraxile X (FRAXA)

10-21 zile


PACHET  INFERTILITATE BARBATI

  • Cariotip sange High Resolution + Microdeletii cromozomul Y (AZF) + Fibroza chistica gena CFTR cele mai comune 39 mutatii

10-21 zile


PACHETE TROMBOFILIE

  • Factorul II (protrombina) + Factorul V Leiden

07-10 zile

  • Factorul II (protrombina) + Factorul V Leiden + PAI 1-1 4G/5G

07-10 zile

  • Factorul II (protrombina) + Factorul V Leiden + MTHFR 677 si 1298 (2 mutatii)
07-10 zile
  • Factorul II (protrombina) + Factorul V Leiden + MTHFR 677 si 1298 (2 mutatii) + PAI 1-1 4G/5G
07-10 zile
  • Factorul II (protrombina) + Factorul V Leiden + NOU Factor V R2 + MTHFR 677 si 1298 (2 mutatii) + PAI 1-1 4G/5G
07-10 zile
  • Factorul II (protrombina) + Factorul V Leiden + NOU Factor V R2 + MTHFR 677 si 1298 (2 mutatii) + PAI 1-1 4G/5G + Factorul XIII Val34Leu + Gena ACE polimorfism I/D
07-10 zile
  • Proteina C
1-3 zile
  • Proteina S
1-3 zile
  • Antitrombina III
1-3 zile