Information related to the tests performed in the Molecular Pathology section:
1- HLA Class I
2- HLA Class II
3- HLA Class I & II
Histocompatibility testing using molecular diagnostic tools has replaced serology testing in most labs worldwide. Our procedure relies on the Sequence Specific Primers (SSP) technique in which internal controls are run simultaneously. All issued results are based on an advanced Gel Documentation System and Computer-assisted Data interpretation using a highly sophisticated Software that integrates the information into a comprehensive report. Please note that manual interpretation is always being performed in parallel.
It is preferable if we receive the specimen in a Citrated tube (4 mls are enough).
Please do call the section for appointments.
4- HLA B locus specific:
We are testing now specifically for the HLA B locus which is needed for your investigation of a patient suspected to have Ankylosing Spondylitis (HLA B27).
In addition, HLA B5 can be detected and it helps in Behcet�s Disease cases.
What is important about this locus-specific kit is that it costs less than running an HLA Class I procedure by around one-third its price.
It is preferable if we receive the specimen in a Citrated tube (4 mls are enough).
Please do call the section for appointments.
Note: The turnaround time for all the HLA procedures is around 4 days.
5- Molecular testing for Factor V Leiden, Prothrombin gene (Factor II) mutation, and Methylene Tetrahydrofolate Reductase (MTHFR) gene mutation.
The main etiological thrombosis factors known at this time, in decreasing order of frequency are:
� The activated Protein C Resistance associated with Factor V (Leiden) mutation
� Circulating anticoagulants and/or Cardiolipin antibodies
� Antithrombin III, Protein C, and Protein S deficiencies
� Prothrombin gene mutation G20210A
I- Factor V Leiden
The Arg 506 Gln mutation (or G1691A, Leiden) is known to be involved in the etiology of deep venous thrombosis, with Antithrombin III and Protein C and S deficiencies. In the presence of this mutation, whether heterozygous or homozygous, it is imperative to prescribe prophylactic treatment, if there is a risk of thrombosis. The diagnosis of an initial case must be followed by a family investigation.
II- Factor II (Prothrombin) gene mutation
We will be testing for the most common mutation involving the 3�-untranslated region of the Prothrombin gene (G20210A) that has been reported to be associated with elevated plasma Prothrombin levels and is estimated to increase the risk for venous thrombosis by 3 to 5-fold.
III- Methylene tetrahydrofolate Reductase (MTHFR) gene mutation
Elevated levels of plasma homocysteine (Hyperhomocysteinemia) are a well established risk factor for both arterial and venous thrombosis. Hyperhomocysteinemia may be caused by nutritional deficiencies or by defects in enzymes involved in homocysteine metabolism like 5,10-methylenetetrahydrofolate Reductase (MTHFR). We will be testing for the most common mutation (C677T) that leads to a thermolabile MTHFR enzyme variant with reduced activity.
Notes:
a. Our technique is based on the PCR-SSOP reverse hybridization technique (Polymerase Chain Reaction combined with Sequence Specific Oligonucleotide Probing).
b. Our protocol allows us to detect the mutations of the three genes in the SAME RUN. Therefore, we will provide you with the results for the three genes even if your aim was one of them! Please note that the price is the same for one, two, or three mutations!
c. It is preferable if we receive the specimen in an EDTA tube (2 mls are enough)
d. The turnaround time for all the procedures is 48 hours from the day we perform the run (We expect to run the procedure twice per week. No appointment is needed).
6- Cell processing and preservation
We are now ready to offer you the service of cell processing and preservation for your consultations outside Lebanon. Some of the labs worldwide do not accept to receive genomic material for testing but rather they prefer intact cells. This is because they prefer to manipulate the samples according to their own applied protocols for DNA or RNA extractions.
Our section will take the responsibility for a full processing technique that will allow the best preservation of the cells. We have also set some shipping standards and agreed upon them with our local agents to transport the processed samples in the most efficient and safe way.
Please call us at least 24 hours before you are ready to send a sample.
7- DNA extraction
For your consultations outside Lebanon or for your research, we are ready to extract and quantitate the DNA for you. The extracted DNA will be preserved at -800C till it is needed for use or shipping.
Please call us at least 24 hours before you are ready to send a sample.
8- RNA extraction
For your consultations outside Lebanon or for your research, we are ready to extract and quantitate the RNA for you. The extracted RNA will be preserved at -800C till it is needed for use or shipping.
Please call us at least 24 hours before you are ready to send a sample. This is very important especially if your aim is to perform a Gene Expression Profiling study using Microarray technology.
9- NEW:
Leukemia testing
t(8;21)
t(9;22)
inv16
t(9;11)
t(12;21)
t(1;19)
t(4;11)
t(15;17)