Molecular Genetics

The Genetics department at biolabhas a full-service genetics laboratory offering testing in molecular genetics, cytogenetics, biochemical genetics, with experience in next generation sequencing and MLPA. Molecular genetics department utilizes cutting-edge technologies, namelyPCR (Polymerase Chain Reaction),NGS (Next Generation Sequencing) as diagnostic tools enabling the characterization of symptomatic subjects, as well as the screening of carriers for certain genetic diseases such hemoglobinpathies, cardiovascular disease, recurrent miscarriages and infertility to name a few.

The spectacular advances in molecular genetics have led to the identification of numerous genes involved in genetic pathologies contributing significantly to the development of efficient preventive actions, patient care, or management of some of these diseases.

Our geneticists are an integral part of our laboratory and serve as an invaluable resource to our clients and ordering physicians and are available to answer your questions about test ordering and results interpretation.

Our priority is the patient, therefore biolab genetics is committed to providing the highest-quality service to help you deliver exceptional care to your patients.

Hereditary Diseases 

A range of hereditary diseases are tested, including:

Familial Mediterranean fever (FMF)

Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in the Mediterranean fever gene which is located on the short arm of chromosome 16 (16p13), this gene encodes a protein called Pyrin. It is an inflammatory disorder characterized by recurrent, short (usually lasting 2-4 days), self-limiting bouts of fever, accompanied by pain in the abdomen, chest or joints. FMF manifestations generally appear in childhood, while onset after the age of 30 is rare. Amyloidosis is the most severe complication of FMF and leads to end-stage renal disease. Colchicine treatment is used to prevent renal amyloidosis. Episodes of fever and inflammation are typically treated with non-steroidal anti-inflammatory drugs (NSAIDs).

Hereditary haemochromatosis 

Hereditary Hemochromatosis is an autosomal recessive iron storage disorder. If not treated properly, excess iron storage can lead to progressive skin pigmentation, liver cirrhosis, liver carcinoma, diabetes, arthritis, hypogonadism, cardiac disease, and premature death. C282Y homozygosity or compound heterozygosity C282Y/H63D is found in most patients with Hereditary Hemochromatosis. Heterozygotes are in general healthy but have slightly increased concentrations of serum ferritin, serum iron, and increased iron saturation of serum transferrin.


Thalassemias are a major public health problem, particularly in Mediterranean countries, the Middle East, Asia, India and parts of Africa. In healthy adults 97-98% of total hemoglobin (Hb) is HbA, consisting of two α-globin and two β-globin polypeptides (α2β2). Abnormalities in the structure and synthesis of both globin chains lead to an imbalance causing the two main types of thalassemia: α-thalassemia and β-thalassemia. The loss of one of the two α-globin alleles (-α) on chromosome 16 causes α+-thalassemia, whereas α0 -thalassemia is due to inactivation of both α-globin alleles (--). Two groups of β-globin mutations are distinguished, depending on whether they lead to a reduction (β+) or an absence (β0) of β-globin synthesis.

Cardiovascular Diseases

Genetic susceptibility to cardiovascular diseases may be caused by mutations in a variety of genes mainly involved in blood coagulation, regulation of blood pressure, and metabolism of lipids, glucose, homocysteine or iron. The CVD panel covers 12 mutations: FV G1691A (Leiden), FV H1299R (R2), Prothrombin G20210A, Factor XIII V34L, β-Fibrinogen -455 G-A, PAI-1 4G/5G, GPIIIa L33P (HPA-1), MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, Apo E2/E3/E4.

Methodology is based on conventional Polymerase Chain Reaction PCR (denaturation, annealing, and extension) of extracted DNA samples, and reverse hybridization.

Y-chromosome Microdeletion

Y chromosome microdeletion is the most frequently encountered genetic abnormality in male infertility. The estimated frequency of Yq11.21-23 microdeletions is 10 – 15% in cases of azoospermia (absence of sperm) and 5 – 10% in cases of oligospermia, Y chromosome microdeletions typically occur de novo.

Azoospermia is known to be associated with deletions in azoospermia factor (AZF) regions of the Y chromosome. There are 13 common deletion sites (SY81, SY84, SY86, SY121, SY124, SY127, SY128, SY130, SY133, SY134, SY182, SY254 and SY255) in 3 AZF regions (a, b and c) that have been screened. Microdeletions of the AZFa region are mainly associated with Sertoli Cell-Only Syndrome (SCOS; Spermatogenic failure); 5% of cases. Microdeletions of the AZFb region are mainly associated with azoospermia/spermatogenic arrest; 10% of cases. Microdeletions in both the AZFb and AZFc are associated with SCOS/spermatogenic arrest; 13% of cases. A range of phenotypes from azoospermia to oligospermia are associated with the absence of the AZFc region; 70% of cases.


Y-chromosome microdeletions are detected using genetic markers called sequence tagged sites (STS) which map along the length of the long arm of the Y chromosome. These STS are PCR-amplified, and the products are subjected to gel electrophoresis. The absence or presence of DNA indicates whether or not deletions are present on the Y chromosome.

HLA –typing

Human leukocyte antigen (HLA) testing is also called HLA typing or tissue typing. It is a blood test that identifies antigens on the surface of cells and tissues. It is used to match a transplant recipient (person receiving a transplant) with a compatible donor (person who gives their cells for a transplant).

A pattern of antigens, called a tissue type, is inherited from your parents. Half comes from your mother and half comes from your father. Everyone has their own pattern except for identical twins, who have the same pattern and are an identical match for tissue and blood cells. Brothers and sisters who have the same parents have a 1 in 4 chance of being an identical match.

Panel reactive antibodies

HLA specific antibody screen

To determine the presence or absence of IgG HLA specific antibodies

HLA specific antibody 

To determine  IgG HLA antibody specificities. Loci covered  :
A, B, C, DRB1, DQ


Luminex technology is a new flow cytometry technology enabling us to analyze numerous reactions in a unique well. It is a multiplexed data acquisition and analysis platform of microsphere-based assays that performs simultaneous measurements of up to 100 different analytes.

In the histo- compatibility field, individual sets of microspheres are modified with reactive components such as antigens in order to perform HLA antibodies identification, or with oligonucleotides in order to perform HLA typing after reverse PCR-SSO.

Janini test

Small amounts of a baby’s DNA pass into the blood stream of the mother during pregnancy. New technology allows us to analyze this DNA directly from the mother’s blood and screen for chromosomal abnormalities. Until recently it has only been possible to screen for abnormalities with highly invasive procedures such as chorionic villus sampling (CVS) or amniocentesis. These tests carry an elevated risk of miscarriage and are only performed later in pregnancy. Initial screening with Janini can help to avoid this potentially unnecessary and invasive testing. There is no risk to mother or baby and Janini provides the earliest testing available.

Janini delivers a clear positive or negative result for chromosomal abnormalities where an extra copy of one chromosome is present (Trisomy). Down syndrome, the most common chromosomal abnormality, can be detected with an accuracy rate of >99.9%.
 Janini also screens for changes in the number of X or Y chromosomes. The test is also suitable if you are pregnant with twins.

What does Janini screen for?

  • Down syndrome (Trisomy 21):
     affects 1 in 1,000 live births ›
  • Edwards syndrome (Trisomy 18):
     affects 1 in 3,000-6,000 live births ›
  • Patau syndrome (Trisomy 13):
     affects 1 in every 5,000 live births

The test can also detect abnormalities of the sex chromosomes:

  • Turner syndrome (Monosomy X)
  • Klinefelter syndrome (XXY)
  •  Jacobs syndrome (XYY)
  • Triple X syndrome (XXX)

Why should you choose Janini test?

  • Completely safe for you and your baby
  • Highest test accuracy
  • Test from the 10th week of pregnancy
  • Only a single blood sample required
  • Results provided 5 business days of sample receipt

How is the test performed?

 A single blood sample, collected from mother. Test results are typically provided to your physician within 10 days of sample date received.

Sample Type



Maternal Blood
Gently invert the tube ten times immediately after blood sampling.


Whole-genome sequencing with next-generation sequencing (NGS) technology to analyze cfDNA fragments across the whole genome, which has proven advantages over other NIPT methodologies such as targeted sequencing and array-based methods. Test failure rates are substantially lower with whole-genome sequencing versus other methodologies.

janini (XY) test

Early sex determination has evolved from invasive techniques such chorionic villus sampling and amniocentesis to noninvasive prenatal testing through the analysis of cell-free fetal DNA (cffDNA). The identification of fetal DNA in maternal blood paved the way for subsequent analysis of fetal DNA for non-invasive prenatal diagnosis.Since its discovery, several studies have shown detectable amounts of cffDNA in maternal circulation as early as 10 weeks gestation.

cffDNA represents about 10% of the total cell-free DNA in maternal plasma at 10 weeks gestation. Multiple studies have demonstrated the use of maternal plasma DNA for fetal sex determination.These studies utilized Y-chromosome target sequences.


Test is based on a novel real-time PCR system for quantification of total human (autosomal) and human male (Y) DNA using cell-free DNA (cfDNA) prepared from a blood sample of a pregnant women; this test has been validated in single pregnancy of at least 10 weeks gestational age. The technology takes advantage of the specific interaction between two modified nucleotides to achieve quantitative PCR analysis. Generated data are exported to the analysis software to determine the presence or absence of the (Y) DNA.  
Fetal gender results should be considered in combination with other standard of care information, such as the results from sonographic screening.

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