ALL TESTS

NON-INVASIVE PRENATAL SCREENING: Analysis of the cell-free foetal DNA in the maternal blood

TESTANSWER TIME (business days)
Harmony-Roche: T13, T18, T2110-14 days
Harmony-Roche: T13, T18, T21, foetal sex, aneuploidies of the sex chromosomes X and Y 10-14 days
Veracity-NIPT Genetics: T13, T18, T21, foetal sex, X and Y aneuploidies, microdeletion panel: DiGeorge syndromes, 1p36 deletion, Smith-Magenis, Wolf-Hirschhorn 10-14 days
VeraGene-NIPT Genetics: T13, T18, T21, foetal sex, X,Y aneuploidies, panel of 4 microdeletions: DiGeorge, 1p36 deletion, Smith-Magenis, Wolf-Hirschhorn syndromes + 50 monogenic diseases 14-21 days
PrenatalSafe Plus - T9, T13, T16, T18, T21, foetal sex, X,Y aneuploidies, panel of 6 microdeletions: Angelman, Cri-du-chat, 1p36 deletion, DiGeorge, Prader-Willi, Wolf-Hirschhorn syndromes7-10 days
PrenatalSafe Karyo - Genoma: aneuploidies of all chromosomes and segmental imbalances (deletions or duplications >10Mb) covering the entire foetal genome10-14 days
PrenatalSafe Karyo Plus - Genoma: aneuploidies of all chromosomes and segmental imbalances (deletions or duplications >7Mb) covering the entire foetal genome, plus panel 9 microdeletions: DiGeorge, Cri-du-chat, Prader-Willi, Angelman, 1p36 deletion, Wolf-Hirschhorn, Jacobsen, Langer-Giedion, Smith-Magenis syndromes + Determination of the foetal Rh in the maternal blood included (pregnant woman with a negative Rh and her partner with a positive Rh) 10-14 days
PrenatalSafe Complete®(PrenatalSafe Karyo® + GeneSafe Complete®): PrenatalSafe Karyo® - aneuploidies of all chromosomes and segmental imbalances (deletions or duplications >10Mb) covering the entire foetal genome GeneSafe Complete®- includes GeneSafe Inherited performing a screening for 5 genetice inherited recessive disorders, such as cystic fibrosis, beta-thalassemia, sickle cell anemia, autosomally-recessive hereditary deafness of type 1A and 1B and GeneSafe De Novo which performs screening for 44 serious genetic disorders, consequences of de novo mutations (mutations which are not inherited) in 25 genes 10-14 days /15-21 days
PrenatalSafe Complete® Plus(PrenatalSafe Karyo® Plus + GeneSafe Complete®): PrenatalSafe Karyo® Plus - aneuploidies of all chromosomes and segmental imbalances (deletions or duplications >7Mb) covering the entire foetal genome, plus panel of 9 microdeletions: DiGeorge, Cri-du-chat, Prader-Willi, Angelman, 1p36 deletion, Wolf-Hirschhorn, Jacobsen, Langer-Giedion, Smith-Magenis syndromes + Determination of the foetal Rh in the maternal blood included (pregnant woman with a negative Rh and her partner with a positive Rh) GeneSafe Complete®- includes GeneSafe Inherited (”inherited”) performing a screening for 5 genetice inherited recessive disorders, such as cystic fibrosis, beta-thalassemia, sickle cell anemia, autosomally-recessive hereditary deafness of type 1A and 1B and GeneSafe De Novo which performs screening for 44 serious genetic disorders, consequences of de novo mutations (mutations which are not inherited) in 25 genes 10-14 days /15-21 days
Additional services for any NIPT: For high risk results, this offer includes: genetic test for confirmation and genetic examination.
In addition, only for PrenatalSafe Karyo Plus, in case the mother’s Rh is negative and the father’s Rh is positive, we offer you the determination of the foetal Rh free of charge.
TESTANSWER TIME (BUSINESS DAYS)
Determination of foetal Rh in the maternal blood along with PrenatalSafe Plus sau PrenatalSafe Karyo15-21 days
Determination of foetal Rh in the maternal blood10-15 days

BIOCHEMICAL SCREENING (KRYPTOR) in the maternal blood for 13,18,21,X,Y aneuploidies

TESTANSWER TIME (BUSINESS DAYS)
Double Test (PAPP-A, free-beta HCG) 24-48 hours
PlGF Screening to assess the preeclampsia risk (week 11-13) 5 days
Complete package: PlGF Screening and Double Test (PAPP-A, free-beta HCG) 5 days
Triple Test (AFP, uE, free-beta HCG) 5 days

WHOLE GENOME ANALYSIS: SNP microarray

TESTANSWER TIME (BUSINESS DAYS)
Molecular karyotype (SNP microarray) - Amniotic fluid/Chorionic villus sampling (CVS) also includes QF-PCR (13,18,21,X,Y) with results provided within 24 hours 10-15 days
Molecular karyotype (SNP microarray) -postnatal10-15 days

PRENATAL/POSTNATAL CONVENTIONAL CYTOGENETICS

TESTANSWER TIME (BUSINESS DAYS)
Alpha-fetoproteine in the amniotic fluid5 days
Classic karyotype - Amniotic fluid/Chorionic villus sampling (CVS): also includes QF-PCR (13,18,21,X,Y) with results provided within 24 hours 10-15 days
Classic karyotype - Amniotic fluid/Chorionic villus sampling(CVS) and Quick Extended Test MLPA which includes: 13,18,21 aneuploidies and analysis of 20 microdeletion syndromes 10-15 days
Classic karyotype - Amniotic fluid /Chorionic villus sampling (CVS): also includes QF-PCR (13,18,21,X,Y) with results provided within 24 hours and analysis of 31 microdeletion/microduplication syndromes 10-15 days
Classic karyotype - Amniotic fluid /Chorionic villus sampling (CVS): also includes QF-PCR (13,18,21,X,Y) with results provided within 24 hours and analysis of 31 microdeletion/microduplication syndromes 10-15 days
Karyotype from bone marrow/peripheral blast cells 15-21 days
Karyotype from product of conception (abortion) 15-21 days
Karyotype from foetal blood 15-21 days
High Resolution blood Karyotype - at least 45 days since the abortion 10-15 days
High Resolutionblood Karyotype (couple) 10-15 days
FISH with specific prenatal/postnatal samples 10-15 days
DNA fragmentation, semen (TUNEL methos)/semen morphology 10-15 days
Comparison between the foetal tissue and the maternal blood to determine the possible contamination48 hours
NB: A maternal blood sample is mandatory for Chorionic villus sampling and products of conception

MOLECULAR

TESTANSWER TIME (BUSINESS DAYS)
Achondroplasia - FGFR3 gene G1138A and G1138C mutations 7-10 days
MLPA Autism (for areas 15q13, 16p11.2, 22q13.33)10-15 days
AtrofSpinal muscular atrophy (SMA) (exons 7 and 8 of genes SMN1 and SMN2) certified IVD (in vitro diagnostic) ia musculară spinală (SMA) (exonii 7 și 8 ai genelor SMN1 și SMN2) certificate IVD (in vitro diagnostic)10-15 days
Congenital heart disease (MLPA)10-15 days
Wilson disease (MLPA)10-15 days
Charcot-Marie-Tooth - PMP22 gene (MLPA) 10-15 days
Charcot-Marie-Tooth X-linked (GJB1 gene) 10-15 days
Deletions of the SHOX gene (MLPA)10-15 days
Detection of the SRY gene 5-10 zile
Uniparental disomy of chromosomes 7/1410-15 days
Uniparental disomy of chromosomes 1510-15 days
DNA extraction2-4 days
Cystic fibrosis - CFTR gene DF508 mutation 5-10 days
Cystic fibrosis - CFTR gene the most common 39 mutations 10-15 days
Fragile X (FRAXA) 10-15 days
Fragile X (FRAXA) - CGG repeats FMR1 gene10-15 days
Congenital adrenal hyperplasia (CAH) - screening of the most frequent 11 mutations of CYP21A2 gene 5-10 days
Hypochondroplasia - FGFR3 gene C1620A and C1620G mutations 5-10 days
Microdeletions of chromosome Y (AZF + SRY) 5-10 days
Neurofibromatosis Type 1 (MLPA)10-15 days
Prader Willi/Angelman methylation 10-15 days
X-linked intellectual disability (MLPA) 10-15 days
Polycystic kidney - PKD1 and PKD2 genes (MLPA) 10-15 days
Screening for 20 prenatal/postnatal microdeletion syndromes (MLPA) 10-15 days
Screening for 31 prenatal/postnatal microdeletion/microduplication syndromes (MLPA) 10-15 days
Screening for subtelomeric microdeletions/microduplications of chromosomes (MLPA) 10-15 days
DiGeorge syndrome (MLPA)10-15 days
Duchenne syndrome (MLPA) 10-15 days
Russel-Sylver/Beckwith-Wiedemann syndrome (MLPA)10-15 days
Hereditary deafness - gene GJB2 mutation 35delG 5-10 days
Hereditary deafness - gene GJB2 mutation W24X 5-10 days
Hereditary deafness - GJB2, GJB3, GJB6 genes the most common mutations (MLPA) 10-15 days
Thalassemia - HBB gene the most common 22 mutations 10-15 days
Quick QF-PCR test: 13,18,21,X,Y aneuploidies 48 hours
Extended MLPA test: 13,18,21 aneuploidies and analysis of 20 microdeletion syndromes 10-15 days
Extended QF-PCR test: 13,15,16,18,21,22 trisomies, triploidy, X,Y aneuploidies2-4 days

GENETIC TESTS: NEXT GENERATION SEQUENCING (NGS)

TESTANSWER TIME (BUSINESS DAYS)
Whole exome sequencing (WES)* 8 weeks
CHARGE syndrome: CHD7 sequencing NGS3-5 weeks
Congenital adrenal hyperplasia (CAH): STAR, CYP11A1, CYP21A2, CYP11B1. CYP17A1, HSD3B2, ARMC5 sequencing NGS3-5 weeks
Cystic fibrosis: CFTR sequencing NGS3-5 weeks
Galactosemia: GALT, GALE, GALK1, ALDOB sequencing NGS3-5 weeks
Kabuki syndrome: KMT2D sequencing NGS3-5 weeks
Galactozemie: GALT, GALE, GALK1, ALDOB secvențiere NGS3-5 weeks
Hiperplazie congenitală suprarenală (CAH): STAR, CYP11A1, CYP21A2 CYP11B1. CYP17A1, HSD3B2, ARMC5 secvențiere NGS3-5 weeks
Methylmalonic acidemia/aciduria (MMA): ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1 sequencing NGS3-5 weeks
MODY: HNF1A, HNF4A, NEUROD1, HNF1B, GCK, CEL, PAX4, INS, PDX1, TCF2, KLF11, BLK, KCNJ11, APPL1 sequencing NGS3-5 weeks
Osteogenesis imperfecta: COL1A1, COL1A2 sequencing NGS3-5 weeks
Phenylcetonuria (PKU) / hyperphenylalaninemia: PAH, QDPR, PCBD1, GCH1, PTS sequencing NGS3-5 weeks
RASopathies (neurofibromatosis type 1, Noonan syndrome, LEOPARD syndrome, metachondromatosis, cardio-facio-cutaneous syndrome, Costello syndrome, Legius syndrome, congenital myopathy with excess of muscle spindles): A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1 sequencing NGS3-5 weeks
Smith-Lemli-Opitz syndrome: DHCR7 sequencing NGS3-5 sweeks
Sotos syndrome: NSD1 sequencing NGS3-5 sweeks
Tuberous sclerosis: TSC1, TSC2 sequencing NGS3-5 sweeks
Gene panel sequencing* AT REQUEST 6-8 weeks
*Additional services: genetic examination included
** At the EUR exchange rate at the payment date

PREIMPLANTATION GENETIC TESTING (in case of IVF)

TESTANSWER TIME (BUSINESS DAYS)
PGS or PGT-A (Screening Genetic Preimplantational sau Test Genetic Preimplantational pentru Aneuploidii)
PGD or PGT-M (Pre-implantational Genetic Diagnosis Screening or Pre-implantational Genetic Screening for detecting specific mutations)
PGD or PGT-SR (Pre-implantational Genetic Diagnosis Screening or Pre-implantational Genetic Screening for detecting structural rearrangements)

THROMBOPHILIA

TESTANSWER TIME (BUSINESS DAYS)
Factor II (prothrombine) 5-10 days
Factor V Leiden 5-10 days
Factor XIII Val34Leu 5-10 days
Gene ACE polymorphism I/D 5-10 days
MTHFR 677 și 1298 (2 mutații) 5-10 days
PAI 1- 4G/5G 5-10 days

VIRUSOLOGY

TESTANSWER TIME (BUSINESS DAYS)
CMV (Cytomegalovirus)* DNA detection 5-10 days
EBV (Epstein-Barr Virus)* DNA detection 5-10 days
HSV 1 and 2 (Herpes Simplex Virus)* DNA detection 5-10 days
VZV (Varicella Zoster Virus)* DNA detection 5-10 days
Toxoplasma Gondii DNA detection - at least 4 weeks since seroconversion 5-10 days
Rubella Virus 5-10 days
* After the 18th week of pregnancy and at least 4 weeks since seroconversion

PANEL OF SEXUALLY TRANSMITTED DISEASES

TESTANSWER TIME (BUSINESS DAYS)
Mycoplasma genitalium 5 days
Mycoplasma hominis 5 days
Trichomonas vaginalis 5 days
Ureaplasma (U. urealyticum / U. parvum) 5 days
Ureaplasma (U. urealyticum / U. parvum) 5 days
Herpes virus simplex type 1 5 days
Herpes virus simplex type 2 5 days
Treponema pallidum5 days
Neisseria gonorrhoeae 5 days
Chlamydia trachomatis (Serovars A-K) 5 days
Chlamydia trachomatis (Serovars L1-L3 = Lymphogranuloma venereum)5 days
NB: Validated samples – urine, endocervical or urethral swab.

EXTENDED NEWBORN SCREENING

TESTANSWER TIME (BUSINESS DAYS)
MS/MS Standard package: 47 errors of aminoacid, fatty and organic acid metabolism3-4 days
Complete package: includes an MS/MS Standard package, Cystic fibrosis, Galactosemia, congenital adrenal hyperplasia (17 OH – Progesterone), congenital hypothyroidism 5-8 days
Cystic fibrosis – IRT 3-5 days
Galactosemia – GAL 3-5 days
Congenital adrenal hyperplasia -17 OH – Progesterone 3-5 days
Congenital hypothyroidism – TSH 3-5 days

MALE INFERTILITY GENETIC PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
High Resolution blood karyotype 10-15 days
Cystic fibrosis - gene CFTR the most common 39 mutations 10-15 days
Microdeletions of chromosome Y (AZF)10-15 days

FEMALE INFERTILITY GENETIC PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
High Resolution blood karyotype10-15 days
Fraxile X (FRAXA) 10-15 days
Thrombophilia panel (Factor II + Factor V Leiden + MTHFR 677 and 1298)10-15 days

THROMBOPHILIA 1 PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
Factor II (prothrombin) 5-10 days
Factor V Leiden 5-10 days

THROMBOPHILIA 2 PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
Factor II (prothrombin)5-10 days
Factor V Leiden 5-10 days
PAI 1-4G/5G5-10 days

THROMBOPHILIA 3 PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
Factor II (prohtrombin)5-10 days
Factor V Leiden 5-10 days
MTHFR 677 and 1298 (2 mutations)5-10 days

THROMBOPHILIA 4 PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
Factor II (prothrombin)5-10 days
Factor V Leiden 5-10 days
Factor V R25-10 days
MTHFR 677 and 1298 (2 mutations)5-10 days
PAI 1- 4G/5G5-10 days

THROMBOPHILIA 5 PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
Factor II (prothrombin)5-10 days
Factor V Leiden 5-10 days
Factor V R25-10 days
MTHFR 677 and 1298 (2 mutations)5-10 days
PAI 1- 4G/5G5-10 days
Factor XIII Val34Leu 5-10 days
ACE gene I/D polymorphism5-10 days

DOUBLE TEST 1 PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
Double Test (PAPP-A, free-beta HCG)24-48 hours
Cystic fibrosis of gene CFTR mutation DF508 5-10 days
Hereditary deafness - gene GJB2 mutation 35delG5-10 days

DOUBLE TEST 2 PACKAGE

TESTANSWER TIME (BUSINESS DAYS)
Double Test (PAPP-A, free-beta HCG)24-48 hours
Cystic fibrosis of gene CFTR mutation DF5085-10 days
Hereditary deafness - gene GJB2 mutation 35delG5-10 days
Spinal muscular atrophy (SMA) (exons 7 and 8 of the genes SMN1 and SMN2)days

TORC profile

TESTANSWER TIME (BUSINESS DAYS)
Toxoplasma gondii IgG antibodies3-5 days
Toxoplasma gondii IgM antibodies3-5 days
Rubella IgG antibodies3-5 days
Rubella IgM antibodies3-5 days
Cytomegalovirus IgG antibodies3-5 days
Cytomegalovirus IgM antibodies3-5 days

TORCH profile

TESTANSWER TIME (BUSINESS DAYS)
Toxoplasma gondii IgG antibodies3-5 days
Toxoplasma gondii IgM antibodies3-5 days
Rubella IgG antibodies3-5 days
Rubella IgM antibodies3-5 days
Cytomegalovirus IgG antibodies3-5 days
Cytomegalovirus IgM antibodies3-5 days
Herpes simplex virus 1 IgG antibodies3-5 days
Herpes simplex virus 2 IgG antibodies3-5 days
Herpes simplex virus 1+2 IgM antibodies3-5 days
Herpes simplex virus 2 IgM antibodies3-5 days

Double Test + TORC package

ANSWER TIME (BUSINESS DAYS)
3-5 days

Double Test + TORCH (Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex virus) package

ANSWER TIME (BUSINESS DAYS)
3-5 days

Double Test + TORC + STD (sexually-transmitted diseases) package

ANSWER TIME (BUSINESS DAYS)
3-5 days

GENETIC PACKAGE PRODUCTS OF CONCEPTION (ABORTION) 1

TESTANSWER TIME (BUSINESS DAYS)
Karyotype of the products of conception (abortion) 15-21 days
CMV (Cytomegalovirus) DNA detection 15-21 days
Toxoplasma Gondii DNA detection15-21 days

GENETIC PACKAGE PRODUCTS OF CONCEPTION (ABORTION) 2

TESTANSWER TIME (BUSINESS DAYS)
Karyotype of the products of conception (abortion) 15-21 days
Screening of 20 microdeletion syndromes15-21 days

GENETIC PACKAGE PRODUCTS OF CONCEPTION (ABORTION) 3

TESTANSWER TIME (BUSINESS DAYS)
QF-PCR test: 13,18,21, X,Y aneuploidies10-15 days
Screening of 31 microdeletion/microduplication syndromes + 1,2,3,4,5,7,8,9,10,15,16,17,22 aneuploidies10-15 days