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CytoGenetics / Molecular CytoGenetics

Cytogenetics / Molecular Cytogenetics involves examination of microscopic (chromosomal) and submicroscopic (molecular) alterations of the genome - that help us detect structural and numerical chromosomal abnormalities and copy number variations (CNVs), respectively.

The Cytogenetics and Molecular Cytogenetic laboratory at the Dubai Genetics Center (DGC) of DHA is very well equipped with the state -of –the-art laboratory facilities and well trained laboratory personals, who perform and report all types of Cytogenetic and Molecular Cytogenetic diagnostic test and test results. This is the only center in the entire region that provides a complete range of Molecular Cytogenetic Diagnostic tests, which includes Karyotyping, Fluorescence in situ hybridization (FISH) testing and advanced Chromosomal Microarray testing (CMA). The laboratory performs testing on a wide range of different tissue samples such as -  chorionic villus (CVS), amniotic fluid, peripheral blood, cord blood, tissue (skin biopsy), product of conception (POC), bone marrow, lymph node and solid tumor.

 Cytogenetics / Molecular Cytogenetics is a highly complex sub-specialty and forms a major category of genetic diseases that accounts for individuals with: 

1)      Constitutional genetic abnormality – that occur in a large proportion of individuals with congenital abnormalities, intellectual disability, developmental delay, infertility, recurrent pregnancy loss etc., as described below.

2)      Acquired genetic abnormality – that occur in individuals with hematologic (leukemia, lymphoma) or oncologic malignancies (solid tumors (like breast cancer, neuroblastoma etc.). 

 

The Cytogenetic / Molecular Cytogenetic Laboratory provides the following services   :

-       Prenatal diagnosis (Karyotyping and Aneuploidy FISH) :  For women with advanced maternal age, abnormal ultrasound finding of the fetus, abnormal maternal serum levels, and other genetic concerns with known family history.  Specimen type - amniotic fluid sample, chorion villi sample, cord blood and product of conception.

-       Postnatal diagnosis (Karyotyping and FISH) :   For individuals with dysmorphic features, multiple congenital anomalies, learning disability, developmental delay, neurological disorders, Autism spectrum disorders, infertility, history of recurrent abortion. Specimen type - Peripheral blood, fibroblast

-       Cancer Genetic diagnosis (Karyotyping and FISH panels) :  Leukemia, lymphoma, carcinoma. Specimen type - Bone marrow, solid tumor

-       Chromosomal Microarray (CMA) testing : For individuals suspected of having microdeletion/duplication. They present with : idiopathic mental retardation, multiple congenital anomalies not specific to a well-defined genetic syndrome, dysmorphic features, neurological disorders, learning disabilities, speech delay, autism and developmental delay. This advanced Molecular testing helps in identifying cryptic and novel abnormalities at a very high resolution, that are otherwise not detectable at the microscopic level.   Specimen type - Peripheral blood.

Chromosomal microarray (CMA) showing a microdeletion at 5q35 chromosomal region

 Y-Microdeletion testing (Karyotyping and Y-microdeletion)

In cases of male infertility. Specimen type - Peripheral blood.

Cytogenetics and Molecular Cytogenetics Service List 

Cytogenetic test request for non-DHA referrals 

 

 

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Wassel Sotak

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