Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes in health and disease.
When is it used?
Genetic studies are an important laboratory diagnostic procedure in
- Neonates and Pediatric: Common indications are Ambiguous genitalia, Delayed Development, Mental retardation, autism, Dysmorphism, single gene disorders, Microdeletion syndromes, muscular, Dystrophies, suspected metabolic disorders, System or organ involvement like Congenital heart disease, Deafness, Blindness and many more.
- Pubertal and adults: Common indications are amenorrhea under developed secondary sexual characters, abnormal USG or other investigations such as low or abnormal sperm count, Members of high ethnic group, Infertility and patients on artificial reproductive techniques, repeated abortions, consanguinity and many more.
- Prenatal diagnosis: common indications are abnormal maternal serum test (Double marker/Triple marker/Quadruple), Advanced maternal age, previous baby or family history of chromosomal /genetic abnormality or Birth defect, abnormal Ultrasound and many more.
- Cancer Genetics: Genetic test are also useful in study, treatment and follow up of patients with malignancies and hematological disorders.
Genetic Counseling services:
Metropolis is the only lab in India to offer Genetic Counselling services to its customers. It is an education and training initiative which aims to spread knowledge about genetic aspects of illness in terms of risk analysis, presence of heritable disorder or of chances of passing it to their unborn offspring with following principle elements: diagnostic and clinical aspects, documentation of family and pedigree information, recognition of inheritance patterns risk estimation, scientific communication and empathy in those seen, information on available options and further measures, support in decision making and discussion on cost effectiveness.
Genetic counselling can be offered to large number of genetic disorders for different conditions and different age groups.
- Pre-conceptional, prenatal Genetic Counselling
- Postnatal (paediatric,pubertal,adults) Genetic Counselling
- Premarital Genetic Counselling
Tissues used for analysis:
Blood, Bone Marrow, Amniotic fluid, CVS, Cord blood, Abortus material (POC – products of conception)
It includes routine analysis of G-banded chromosomes, other cytogenetic banding and staining techniques, as well as molecular cytogenetics such as Fluorescent in situ Hybridization (FISH) and comparative genome hybridization. New techniques allow for increased resolution of chromosome banding patterns, permitting differentiation of a greater number of abnormalities.
Cytogenetics (Conventional Karyotyping, High Resolution Banding, Breakage studies, staining and Banding techniques)
Molecular Cytogenetics (FISH) for Aneuploidies on various tissues including sperm FISH,various microdeletions, Solid tumors and hematological malignancies.
PCR/Sequencing based Molecular studies: Thalassemia, DMD/BMD, SMA, SCA, Fridreich Ataxia, Huntigton Disease Y-microdeletion, Fragile X, Paternity test, Factor II and Factor V.
Techniques & Automation:
- Conventional G- Banding & High Resolution Banding
- C- Banding,Q-Banding, AgNOR staining
- Stress/ Breakage studies
- FISH – Fluorescence in-situ hybridisation
- Automated systems for identification of metaphase & interphases cells.
A team of Geneticists and senior scientists available on telephone for any queries right from sample selection to report discussion.
Highly qualified and experienced Clinical Geneticist available for clinical correlation, interpretation of report, and Genetic Counselling.