The Genetics Clinic specializes in the diagnosis, risk assessment, management and prevention of genetic disorders. We cater to all genetic conditions extending from fetal to adult life including cancers. Comprehensive testing is available for all forms of genetic disorders like Chromosomal abnormalities, single gene disorders, multi-gene disorders and inborn errors of metabolism. We also offer pre-conceptional and pre-marital counseling along with pre-natal diagnostic facilities for all forms of genetic disorders. We also offer guidance in pregnancies complicated by teratogenic exposure either via drugs ,radiation or underlying maternal illness.
These disorders arise due to an abnormality in an individual’s genetic material. This abnormality could have been inherited from one’s parents or it could have arisen for the first time in the patient (called de novo). These disorders not only affect the patient’s quality of life but also pose a risk of being transmitted to the future generations.
What do we deal with? (Please note that the undermentioned list of conditions in not exhaustive. It only exemplifies some of the disorders wherein care is provided by the geneticist)
A child/ person is said to be dysmorphic when he/she looks different. A large number of genetic syndromes can lead to dysmorphism and the clinic offers comprehensive evaluation for all. A few examples include Down syndrome, Prader Willi syndrome, William syndrome, Cri du chat etc.
Metabolic disorders are usually under-recognised and can present as vomiting, refusal to feed, respiratory distress, convulsions, sudden lethargy, jaundice, hepatosplenomegaly, developmental delay, neonatal deaths. Some disorders like the lysosomal storage disorders lead to significant disability.The clinic offers testing and management of all metabolic disorders like:
These include both numerical as well as structural abnormalities like trisomies, monosomy, tirploidy, translocations, inversions, insertions etc. When present in an unbalanced form they could lead to infertility, recurrent pregnancy loss, children with delay in development or malformations as well as lead to cancer. We offer both basic as well as advanced testing facilities like microarray in order to characterize the underlying abnormality and guide the family.
Assessment is available both for short stature due to inherited problems in growth hormone production and function as well as disproportionate short stature which is due to an abnormality in the skeletal development. Some examples of skeletal problems and short stature syndromes that we deal with include:
Did you know that a host of genetic diseases can lead to failure to thrive (poor weight and height gain) ? A few of the genetic conditions which can lead to failure to thrive include:
Who should avail preconceptional counseling :A) Couples with a history of a previous affected child/ family member/ partner with any of the following :
Consanguinity leads to an increased incidence of genetic disorders as compared to the baseline risk. Risk assessment (judged from a detailed family history) and options for carrier screening shall be discussed to guide reproductive decisions.C) All couples before planning a pregnancy :
Did you know that certain disorders like thalassemia, spinal muscular atrophy and fragile X are common in the Indian population? Screening for these disorders can prevent the birth of affected children as most of these conditions do not have a cure or if cure is available it is expensive. Screening for certain infectious diseases before pregnancy can avoid fetal malformations. Congenital malformations like neural tube defects can also be avoided by pre-pregnancy care.Pre-marital counseling :
A family history of an affected individual leads to concerns in the prospective bride or groom. This session is aimed at clarifying the type of disorder in the family, understanding whether it has a genetic basis and reviewing the risk of the individual (prospective match) in concern. It aims at establishing the status of the individual, understanding whether there are reproductive risks, discussing the available options of management when necessary and allaying familial anxiety.
Since the field of genetics is still a developing specialty in medical science, you might be unsure as to whether you need to consult a geneticist. A few scenarios where a genetic opinion is helpful and should be sought are cited below.