Molecular Cytogenetic Unit
(Contact number 04 2193454/3459)
The Molecular Cytogenetic laboratory at the Genetics Center of DHA, Dubai, is well equipped with the state of art laboratory facilities and well trained laboratory personals for performing and reporting all types of cytogenetic diagnostic tests. This is the only center in the region that provides with a complete range of Molecular Cytogenetic Diagnostic tests (see below).
Every individual has 46 chromosomes with XX in females and XY in males. These chromosomes are carriers of the genetic material that encodes for all genetic information. Thus any abnormality in the chromosome number or structure leads to a genetic condition with mild to severe clinical presentation depending on the type of chromosomal abnormality. Vast majority of genetic diseases include chromosomal disorders. 1/120 live born and 1/2 of all spontaneous abortions have an underlying chromosomal cause. Today, cytogenetic study is highly warranted for a high risk pregnant woman (abnormal biochemical screening and advanced maternal age). Similarly, Cancer Cytogenetics is very vital for disease diagnosis, prognosis, treatment and management processes.
Thus, Cytogenetics plays a very important role in - Genetic diagnosis, risk assessment and patient management in this modern Health Care system.
Referrals for Cytogenetic tests :
Cases referred for chromosomal analyses include a wide range of individuals with the following clinical conditions:
1) Adults with history of spontaneous abortions, repeated miscarriages, infertility
2) Neonatal and pediatric group of patients with complex conditions like mental retardation, learning disability, developmental delay, autism, congenital malformation, ambiguous genitalia etc.
3) Cancer cases with leukemia, lymphoma, solid tumor
4) Her2 testing by FISH for breast cancer therapeutics and follow up
5) Prenatal diagnosis (amniocentesis, CVS and cord blood by FISH and Karyotyping) in cases with suspected genetic abnormalities in the fetus, advanced maternal age and/or abnormal biochemical triple test
6) Detection of carrier status in parents of a child with known chromosomal abnormality, to understand the inheritance pattern and to decide upon the risk factor for subsequent pregnancies.
The laboratory performs testing on different types of 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.
In addition to routine karyotyping other specialized tests are also offered, which include Fluorescence in situ hybridization (FISH) for various prenatal, postnatal and cancer conditions, Y-chromosome Microdeletion by PCR for male infertility, Microarray testing by array-CGH (for specific complex disease conditions).
List of Molecular Cytogenetic services :
• Postnatal Diagnosis – Routine High resolution karyotyping for cases with multiple congenital anomalies, mental retardation, Infertility, repeated abortions etc.. in neonates, pediatric and adult individuals
• Prenatal Diagnosis – (FISH and Karyotype) amniotic fluid, chorion villi or cord blood samples and product of conception (POC)
• Cancer Cytogenetics (FISH and Karyotype) for Leukemias (CML, AML, ALL, CLL, MDS…), Lymphomas and solid tumor (Neuroblastoma etc)
• Microdeletion Syndromes (FISH and Karyotype) – for (DiGeorge, Prader- Willi syndrome, Angelman syndrome etc) FISH & Karyotype
• Infertility : Y microdeletion by PCR(Male infertility) including Karyotype and FISH tests
• Fibroblast culture (Skin) – for karyotyping or for wide range of biochemical testing (see test list in Biochemical Genetics)
• Family Screening – chromosomal study of parents or sibs to rule out carrier status and for risk assessment.
• Whole Genome Microarray study – High resolution oligoarray analysis : for detection of submicroscopic (about 15-50 kb) copy number variations (CNVs) in complex cases such as mental retardation, multiple congenital anomalies, learning disabilities etc. This is a highly specialized test with the latest modern technology. It has changed the whole perspective of cytogenetics as it enables a molecular insight into the submicroscopic chromosomal abnormalities, which otherwise was not detectable by traditional cytogenetic methods.
• Counseling – to help understand the genetic abnormality that is diagnosed by cytogenetic testing and to provide further information on the condition.
List of all Cytogenetics tests that are available at the center is attached separately.
Cytogenetics service list
Cytogenetics request form (PDF - Word Document)