Advanced laboratory services

Family study for mutation(s) detection - Step one

CVS in 12 weeks or amniocentesis in 14 weeks gestation - Step two

In parents for prenatal diagnosis of any genetic disease, best time is before pregnancy 

Prenatal Diagnosis for all of these disease and other genetic conditions in the family through CVS at 12-14 weeks or amniocentesis at 14-17 weeks
• Sickle cell anemia
• Cystic Fibrosis,
• Osteogenesis Imperfacta
• Hemophilia A or B
• Duchenne & Becker Muscular Dystrophy 

• Spinal Muscular Atrophy

Prenatal Diagnosis of numerical and structural chromosomal aneuploidy in fetus from amniotic fluid or CVS samples

Establishing whether an individual is the biological father of a fetus through Amniotic fluid or CVS

Chromosome analysis in male & female, for detection of chromosomal numerical and structural aneuploidies.

Array-based Comparative Genomic Hybridization of male & female & product of conception to detect any loss or gain in chromosomes that could lead to RPL

Study of 12 polymorphisms and mutations in female could increase thrombosis tendency in mother through pregnancy, includes FII Prothrombin, FV Leiden, FV 1299, FV Cambridge, FV Y1702C, MTHFR 677, MTHFR 1298, MTR 2756, MTRR 66, FXIII Val34Leu, Beta-Fibrinogen 455 G>A and PAI-1 4G/5G mutations. Learn more

Microdeletions of the Y chromosome as cause of spermatogenetic failure resulting in male infertility. The molecular detection of deletions has become an important diagnostic test in male infertility studies. Four Azoospermia factors (AZFa, AZFb and AZFc) have been mapped to Yq11, of which AZFc is the most frequent region involved in deletions.

Analysis of polymorphisms -3' UTR 14bp ins/del and -5' UTR-725 C-G.

Chromosome analysis of product of conception (maximum 48hours after missing the fetus) with high-resolution G banding for detection of chromosomal numerical and structural aneuploidies in fetus

Chromosome analysis of female partner

Chromosomal analysis on 50 cells culture to detect mosaicism especially in suspected mosaic Turner syndrome

A comprehensive next generation sequencing (NGS) panel that analyzes 70+ genes associated with female infertility, including primary ovarian insufficiency, Ovarian Dysfunction, Ovarian Dysgenesis, polycystic ovary syndrome, Preimplantation embryonic lethality, errors in folliculogenesis and oocyte maturation defects, ovarian hyperstimulation syndrome, and recurrent pregnancy loss

Assessment of the endometrial microbiome to improve the reproductive outcome of infertile patients. EndometriomeTM test provides a complete view of the endometrial bacterial composition, reporting the 10 most represented bacteria in the endometrium, as well as identifying the 8 most common pathogens causing chronic endometritis (CE). EndometriomeTM test can determine whether the uterine microbial environment is optimal for embryo implantation. Depending on the results, it recommends embryo trans

Chromosome analysis of male partner. A karyotype is recommended in all men with a total motile sperm count below 5 to 10 million who are thought to have non-obstructive azoospermia

Molecular detection of microdeletions of the Y chromosome as cause of spermatogenetic failure resulting in male infertility. Learn more

Global Male infertility NGS panel that analyzes 50 genes associated with male infertility. It reveals genetic factors that are associated with some of the most common reproductive conditions in men.

Analysis of the polymorphisms Ser680Asn of the gene FSHR (FSH Receptor) and - 211 TT (g.4790 G>T) of the gene FSHB, to evaluate the possible treatment of male infertility with FSH hormone.

Flow Cytometric SDF (FC-SDF) assay has gained clinical importance compared to commonly used techniques due to its sensitivity (due to analysis of large number of sperm cells) which enables quantitative and subjective test results. The assay quantifies the incorporation of fluoresceinated dUTP antibody into single- and double-strand DNA breaks.

Reliable prediction before TESE operation to detection of spermatogenic serial cells in the haploid structure that have completed meiosis process in the testis biopsy material or seminal plasma.

A comprehensive next-generation sequencing (NGS) panel that analyzes 50+ genes associated with primary ovarian insufficiency and ovarian dysfunction

Cytogenetic study for Fragile X Syndrome. Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations

Molecular study for fragile X syndrome, Trinucleotide Repeat expansion method

Chromosomal analysis to detect any aneuploidy in karyotype (numerical changes) involving X chromosome and changes give rise to different kinds of syndrome patients such as Turner Syndrome (45, X) and different types of mosaic Turner with different karyotypes. Chromosomal analysis on 50 cells culture is performed to detect mosaicism especially in suspected mosaic Turner syndrome.

Characterization of an unbalanced X-autosome translocation. Array-CGH was found to be a very useful tool in the identification of candidate genes in conditions associated with primary amenorrhea and ovarian failure.

A comprehensive next-generation sequencing (NGS) panel that analyzes 50+ genes associated with primary ovarian insufficiency and dysfunction

Non-invasive prenatal testing, Screening for chromosomal abnormality in chromosomes 13,18,21,X, and Y plus sex determination (optional) after 10 weeks of gestational age.

Offered from CentoGene of Germany

Learn more

1-Screening for all chromosomal aneuploidies and deletion-duplications in all chromosomes.

2-Fetal sex determination

3-Fetal Rh(D) genotyping-from 10 weeks of gestational age

Offered from GENOMA Group Laboratories of Italy

Fetal screening for monogenic disease (CF, sickle cell, Beta-thassemia, Deafness) 

This test requires a nuchal translucency (NT) measurement performed by a certified ultrasonographer. This test does not screen for Open Neural Tube Defect (ONTD) and is only used to screen for fetal risk of Down syndrome (trisomy 21) and trisomy 18. Specimen must be drawn in the first trimester between 11 weeks, 0 days and 13 weeks, 6 days. (Crown-Rump length (CRL) must be between 4.2-8.5 cm).

Specimen must be drawn between 14 weeks, 0 days and 24 weeks, 6 days gestation. This test is used to screen for fetal risk of Down syndrome (trisomy 21), trisomy 18, and Open Neural Tube Defect (ONTD, spina bifida).

Specimen must be drawn between 14 weeks, 0 days and 24 weeks, 6 days gestation. This test is used to screen for fetal risk of Down syndrome (trisomy 21), trisomy 18, and Open Neural Tube Defect (ONTD, spina bifida).

Chromosomal Aneuploidy Screening in embryos 

Study of embryos for chromosomal structural anomalies 

Study of embryos for monogenic diseases

Test for HLA Typing of embryos

Cervical cancer screening guidelines advise HPV testing in women ages 30 to 64 years as co-testing with cervical cytology or as a reflex test when the Pap test result is atypical squamous cells of undetermined significance (ASC-US). Learn more

Liquid-based cytology (LBC) is a method of preparing cervical samples for cytological examination. Unlike the conventional 'smear' preparation, it involves making a suspension of cells from the sample and this is used to produce a thin layer of cells on a slide.

DNA profiling for each individual to establish whether an individual is the biological father or mother of another individual

Sample: blood as WB (EDTA),  buccal smear, hair & nail

Recommended for complex and undiagnosed cases suspicion of genetic causes. It Diagnose more than 7000 rare monogenic disease plus chromosomal microdeletion, duplications and mitochondrial disease.

For couples with a history of passed offspring suspected of having genetic disease to detect carrier status 

AMXY gene on X and Y chromosome and SRY gene on Y chromosome are studied through PCR for determining the sex of individual or fetus

For hereditary breast & ovarian cancer screening, NGS method 

Offered from Centogene Germany

21 gene study (BRCA1 & BRCA2, CHECK2, PALB2, BRIP1, MLH1,… ), NGS method 

Offered from Centogene Germany