Clinical and Laboratory Services
- Patient Care
- Prenatal Diagnosis
- Laboratory tests
The department provides comprehensive medical care to patients with genetic disorders. This includes diagnosis and management of genetic diseases, and prenatal diagnosis. The department conducts general outpatient clinic for genetic disorders thrice a week (Monday, Tuesday and Thursday). Major clinical presentations that the department sees are: chromosomal disorders, monogenic disorders, mental retardation, neural tube defects and other congenital malformations, multiple malformation syndromes, bleeding and coagulation disorders, hemolytic anemias, short stature, skeletal dysplasias, myopathies, neurodegenerative disorders, ataxia, hypogonadism (male/female), ambiguous genitalia, inborn errors of metabolism, and familial disorders. The department also provides hyper-transfusion therapy for patients with thalassemia major and treatment of genetic disorders of coagulation like hemophilia and von Willebrand disease.
Genetics counselling is an important part of management of patient/family
with a genetic disorder. Counseling is based on confirmation of diagnosis,
good communication skills in local language and sympathetic attitude towards
the affected family.
Prenatal diagnosis is available for the following disorders:
- Congenital malformations and multiple malformation syndromes
Chromosomal disorders
Beta and alpha thalassemias
Hemoglobinopathies like sickle cell disease and hemoglobin E
Duchenne's/Becker's muscular dystrophy
Hemophilia A
Spinal muscular atrophy
The department has well-equipped clinical-cum-research laboratories which perform several tests for genetic diseases.
Cytogenetic investigations
- Karyotyping from peripheral blood, fibroblasts, amniotic fluid and
chorionic villi
Investigations for hematological diseases
- Red Cell indices
Osmotic fragility curve
Sickling test
HbF and Kleihauer test
Hemoglobin electrophoresis
Alpha and beta thalassemia screening and DNA testing for thalassemia
Globulin chain separation analysis by HPLC
Micro-column chromatography for HbA2 quantitation
DNA testing for gene structural variants like HbS, HbE and HbD
Heinz body test
Pyruvate kinase test
Plasma hemoglobin
Serum iron, ferritin and total Iron Binding capacity (TIBC)
Qualitative and quantitative analysis of G6PD
Carrier detection and prenatal diagnosis of hemophilia A
Biochemical investigations
- Screening for inborn errors of metabolism
Paper chromatography for urinary aminoacids
Thin layer chromatography for plasma aminoacids
Porphobilinogen
Immunogenetic (HLA) investigations
These include HLA typing service for renal and bone marrow transplantation
programmes of the institute. Various investigations offered are:
- HLA (class I and II) typing
First and final cross match
Panel reactive antibodies
Chimerism studies for engraftment/rejection of bone marrow transplant
HLA B27 detection
Paternity test
Investigations for neuromuscular disorders
- DNA linkage and mutation analysis for Duchenne and Becker muscular
dystrophies
DNA mutation analysis for spinal muscular atrophy
DNA analysis for Fragile-X syndrome
The department provides detailed radiographic studies and autopsy facilities for definitive diagnosis of (a) still births with malformation(s), and (b) malformed fetuses (diagnosed based on ultrasonograhy and aborted). This helps in accurate counseling regarding recurrence risk and better prenatal diagnosis during next pregnancy.
The fetus can be sent without any preservative if it is sent immediately
and during working hours (9AM to 5PM). If delay of more than 5-10 hours
is likely, the fetus should be sent in 10% formalin. In addition, 1-2 ml
of fetal blood collected aseptically in a syringe containing 2 drops of
heparin or heparin vacutainer should be sent alongwith the fetus for chromosomal
studies. Delay up to 24 hours is permissible.
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