The cytogenetic laboratory deals with the analysis of chromosome in relation to genetic disorders. It involves examining chromosomes visually under the microscope as well as karyotyping them using PSI Power Gene Karyotyping System. It can detect loss or gain of chromosomal material as well as both balanced and unbalanced structural rearrangements such as translocations, duplications, deletions and inversions.

        Our Service provides neonatal and pediatric investigation of recognized disorders (such as Down Syndrome, Patau Syndrome and Edward Syndrome), investigation of cases with mental retardation, developmental delay, multiple congenital anomalies, dysmorphism, or autistic features as well as investigation infertility and reproductive problems in adults.

CYTOGENETIC SERVICES:
Genetics is the branch of medical sciences that studies heredity and its effect on the human welfare and health. Genes correspond to regions of the genome, which is made up of DNA. DNA is packed in small organelles called chromosomes. Cytogenetics is the exciting, dynamic field of study dealing with the microscopic analysis of chromosomes in individual cells. Chromosome disorders form a major category of genetic diseases. The incidence of chromosome abnormalities is relatively not uncommon in the population.
In a clinical setting, chromosome analysis is considered an essential component of the important work-up for individuals with multiple congenital malformations, dysmorphic features, mental retardation, developmental delay, ambiguous external genitalia, stillbirths, delayed sexual development, short stature, multiple spontaneous miscarriages, infertility, and for individuals with hematologic neoplasms and solid tumors. Information about genetic abnormalities in those patients can be particularly useful for establishing a diagnosis, for disease classification and monitoring, as well as for treatment decisions and for offering better genetic counseling.
Some chromosomal disorders (Numerical aberrations) are caused by changes in the number of chromosomes. This is called aneuploidy and is not inherited, but occur as random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction results in reproductive cells with an abnormal number of chromosomes either missing a chromosome from a pair (monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.). If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra or missing chromosome in each of the body’s cells such as Down syndrome, Turner syndrome and Klinefelter syndrome etc. 
Changes in chromosome structure (Structure aberrations) can also cause chromosomal disorders. This may take several forms; deletions; duplications; translocations; inversions; rings, and isochromosomes etc. Some changes in chromosome structure can be inherited, while others occur as random accidents during the formation of reproductive cells or in early fetal development. On the other hand, some cancer cells also have changes in the number or structure of their chromosomes. Because these changes occur in somatic cells (cells other than eggs and sperm), they cannot be passed from one generation to the next. Because the inheritance of all these changes can be complex, people concerned about these types of chromosomal abnormalities may want to talk with a genetic professional.
Cytogenetics studies can be performed on fresh blood, bone marrow, prenatal specimens, solid tissue specimens, and on fixed specimens. The analysis of chromosomes in human development and disease is accomplished through classical cytogenetic procedures (such as G-banding) combined with advanced molecular techniques such as fluorescence in situ hybridization (FISH) and genomic microarray analysis. The Cytogenetics Laboratory combines state-of-the-art techniques with comprehensive interpretation of test results.
We have been providing accurate, competitively timing and quality-testing service for more than 30 years to the local, regional and national healthcare providers. Development of new technology and testing are constantly under way, while we continue to provide routine cytogenetics tests of the highest quality.