Objectives
Offering karyotyping in children suspected with chromosomal disorders.
Offering Karyotyping for couples having recurrent pregnancy loss / infertility
Providing Genetic counselling for patients
Services Offered
The Genetic and Metabolic unit offers advanced laboratory diagnostic facilities to identify and screen the developmental issues in children. The various diagnostic services include bio-chemical analysis, cytogenetic analysis and molecular biology techniques. The detailed infrastructure and procedures available at the unit is summarised below.
Bio-chemistry Section
The Bio-chemistry section of the laboratory is equipped with diagnostic devices like Automated Chemiluminescence Immunoassay Analyser for doing thyroid function test in children and adolescents.
Molecular Genetics
This section of the laboratory is involved in research activities which include an on-going multicentric collaborative study on lysosomal storage disorder. The lab is also dealing with mutation analysis of rare diseases. Blood samples are collected from SAT as well as from other collaborative centres. DNA isolation followed by PCR, visualization by Gel Documentation system and finally sequencing are being done.
Human Cytogenetics
The Human Cytogentic Laboratory is involved in genetic diagnostic services to the patients attending Medical College and SAT Hospital, Thiruvananthapuram. Cytogenetic study is carried out in children with suspected chromosomal disorders (Intellectual Disability/ Dysmorphism/ Multiple malformation/ Down syndrome/ Short stature/ Ambiguous genetalia) and in couples with recurrent pregnancy loss, infertility etc. The lab follows stringent sterile conditions for sample collection and culture procedures. The documentation and reporting of chromosomal analysis follows the International standard for Chromosomal Nomenclature (ISCN- 2013). The laboratory is equipped with computerised karyotyping system (Applied Spectral Imaging Software) allowing a substantial shortening of turnaround time of the results. The results will be verified by a qualified Medical Geneticist and genetic counselling will be provided to the needy patients.