The department is one of its kinds in Hyderabad equipped with state of the art instrumentation for diagnosis and research in medical genetics.
The three missions of the department are service, research, and teaching. It offers services in Molecular Diagnostics and Clinical Cytogenetics.
Molecular Diagnostics Division: the key to successful treatment is ability to provide patient with accurate and early diagnosis using a series of sophisticated tests. Due to advances in DNA technology it is now possible to get accurate diagnosis.
Molecular diagnostic methods that use nucleic acid amplification (PCR) for clinical diagnosis present the clinician with an array of options to obtain more rapid and accurate results. The division of molecular diagnostics conducts testing to rapidly detect infectious agents of public health importance and genetic disorders.
Molecular diagnostic assays are based on detection of specific nucleic acid molecules contained in microorganisms and nucleic acid changes with genetic disorders by PCR method. Molecular diagnostic techniques have got application in virtually all areas of medicine as follows:
- Molecular Diagnostics of infectious diseases
- Molecular Diagnosis of genetic disorders
- Transplantation Immunology
- Cancer Genetics
Advantages of nuclei acid amplification or PCR methods in diagnosis
- Direct detection of pathogen by DNA/RNA assays
- Highly sensitive and specific
- Rapid and early detection
- Prognostic Value
- Monitor disease progression and drug treatment effects
Cytogenetics tests employ actively dividing cell population by blocking cell division at metaphase to identify diseases associated numerical and structural chromosomal abnormalities. Cytogenetic tests found application in the following areas of medicine.
- Prenatal cytogenetics
- Postnatal cytogenetics
- Cancer Cytogenetics
Currently chromosomal Analysis of blood and bone marrow is performed in a modern state of the art laboratory located at the department. Modern image – analysis and computer karyotyping systems are used to interpret results.
Indications for Postnatal Cytogenetics
- Multiple Congenital anomalies
- Unexplained mental retardation and developmental delay
- Suspected unbalanced autosomal abnormalities
- Suspected sex chromosomal abnormalities
- Girls with primary amenorrhea, secondary amenorrhea, irregular periods, short stature. Suspected Turner Syndrome, precocious puberty, growth retardation
- boys with precocious puberty, gynecomast, underdeveloped secondary sexual characters, mental or growth retardation
- Suspected fragile X syndrome
- Order to rule out sex chromosomal abnormality
- Couples with recurrent spontaneous abortions, IUDs stillbirths, previous foetus//baby with congenital anomalies, bad obstetric history and primary.
Indications for cancer cytogenetics (Leukaemia)
- Acute leukaemia at diagnosis, if an abnormality is present, follow-up after treatment or at relapse
- If an abnormal clone is not detected, reinvestigation at relapse may be indicated.
- Myelodysplasia (preleukemia) at diagnosis, follow up may be indicated at disease progression.
- Other chronic myeloproliferative disorders at diagnosis and disease progression in selected cases.