The services offered include:
- Clinical diagnosis of genetic diseases
- Syndrome identification
- Genetic counseling
The Diagnostic division (through the OPD in NIMS) provides comprehensive diagnosis and prenatal diagnosis of genetic disorders. Major clinical presentations seen 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.
Genetic disorders are rare disorders and Medical Genetics is a specialty in itself. Evaluation of the patient by a trained Clinical Geneticist will be helpful in accurate diagnosis and counseling of the patient. We request you to kindly send/refer the patient to our OPD at NIMS along with any earlier reports so that detailed work up of the patient can be done to reach a diagnosis. The patient shall be sent/referred back to you along with any reports and Genetic counseling.