Cytogenetic Laboratory

Director of the Cytogenetic Laboratory

Dr. Cohen Lior                                                                                    

Laboratory Manager

Gobozov Rima

Secretary                                                       

Jano Avital

Location

Building 500 Outpatient building 3rd floor

 972-8-6663306

    972-8-6745456  

[email protected]

Genetic Tests

♦Blood cytogenetic examination

♦Amniotic fluid cytogenetic examination

♦Skin cytogenetic examination

♦Bone marrow cytogenetic examination

♦Karyotype analysis

♦FISH (Fluorescence In Situ Hybridization) analysis

What is Karyotype analysis

This is one of the basic genetic tests performed to check the chromosomes in the blood cells and the cells in the amniotic fluid. During this procedure, the chromosomes are isolated, counted and checked for their morphological appearance. Abnormalities in the chromosomes can be detected such as translocations, absence of amino acid in the chain, and others. Chromosomal abnormalities can cause recurrent abortion and congenital malignancies.   

Amniotic fluid aspiration  

Amniotic fluid aspiration is performed usually between weeks 16-20 of pregnancy. The aspiration from the uterus is performed through the abdomen using ultrasound guidance. The results will usually be ready within three weeks.

 Aim of the amniotic fluid aspiration

The aim of this test is to examine the chromosomal chain of the fetus. The normal number of chromosomes is 23 pairs (total 46 XX/XY). Any lack of chromosome or extra chromosome may cause a disease/syndrome, such as trisomy 21 which is known as Down's syndrome.

There is a risk of 0.2% (1:500) for abortion within 10-14 days after the aspiration. The reason of the abortion is not known.

FISH Test (Fluorescence In Situ Hybridization)

This is a rapid test (the result may be ready within 36 hours after the aspiration) and it is intended to find the presence/absence of 5 chromosomes only: X,Y,13,18,21. It is useful to find Down syndrome for example, but it is no intended to check the whole chromosome series.