top of page

If during your visit to a doctor for a medical problem, he/she used the words like familial or birth defects or genetic or hereditary or congenital malformation, etc. It would be best to have a Genetic Counselor, an expert who can explain the health problem and its relation to genetics in simple terms. They explain the necessity of tests, their interpretation, and their relation to the disease diagnosis and prevention or treatment. They offer options and assist in making difficult decisions and plans of action based on your finances, culture, religion, and personal preferences.

Blue to Cream Gradient

Any genetic/rare/hereditary disease warrants a genetic consultation. 

Circumstances under which someone might consult a genetic counsellor can be classified as:

Couples/Persons who are...
Planning pregnancy

 
Planning for pregnancy

Couple facing repeated abortions/ loss of pregnancy

Couples with history of abortions, abnormality in ultrasound/diagnostic tests (double/triple marker, NT or TIFFA scan) Intrauterine demise, stillbirth, IUGR, etc.

Pregnant couple

 
Pregnant

planning a second child

Planning pregnancy after having a child with autism, failure to thrive, intellectual disability, developmental delay, birth defects, other genetic conditions.

couple facing infertility

 

Facing fertility issues

Parents of a child with a genetic disease

Parents of kids showing signs and symptoms of developmental delay, autism, failure ti thrive, other disorder that may be genetic.

Direct to Consumer Genetic Testing

Planning to go for Direct To Consumer genetic testing

Individual diagnosed with a genetic disease

Diagnosed with a genetic condition or who might suspect that they have a genetic condition (hereditary cancers, rare diseases, etc).

Genetic Counselling for Disorders

Our body is made up of individual units called cells. In the center of most cells is a structure called the nucleus. This is where chromosomes are located. Chromosomes contain genes that give instructions to the cells for normal functioning, repair, and survival. Every human has 23 pairs of chromosomes comprising of a pair of sex chromosomes (X and/or Y responsible for sex determination) and 22 pairs of autosomes (numbered 1–22). Human genetic disorders result from abnormalities of this genetic material resulting in dysmorphism, malformations, developmental disabilities, etc. Some well-known genetic disorders are:

Down Syndrome

 

Down Syndrome

Breast Cancer

 

Breast Cancer

hemophilia

 

Hemophilia

klinefelter Syndrome

Klinefelter Syndrome

Thalassemia

 

Thalassemia

Cystic Fibrosis

 

Cystic fibrosis

bottom of page