Genetic Testing and Counselling For A Variety of Disorders

We have 3 well experienced genetic counsellors who are certified also by Board of Genetic Counselling in India. They guide couples with a history of known genetic disorders. Genetic counselling is done for the couple and the family members wherever needed. The couples are guided for tests to be carried out to identify the disorder and explained the importance of prenatal and preimplantation genetic testing to prevent the birth of an affected child. Full information of the consequences of genetic disorders is provided. Couples are guided to special support groups.

The couples are also guided for latest Genetic testing technology now a days available in India like karyotyping, FISH, molecular testing, microarray, next generation sequencing. If a couple is willing to know in advance if both the partners are carrier for any common genetic mutation which may lead to major disorder in the future child, the preliminary genetic testing for different disorders is offered to them.

The couple may have history of multiple cancers in their family members. In such situation, they are guided to test for inherited cancer gene panel which will tell if the person is carrying any pathogenic gene mutation which may lead to cancer in future. Also, inheritance of the same can be prevented in the future generation using preimplantation genetic testing.

One of the partner or both the partner may carry variance of unknown significance. They are also counselled the importance of preimplantation testing in such cases. They are explained all the advantages and limitations of the testing.

Our team has counselled for variety of disorders :

  1. Hematological disorders such as thalassemia, hemophilia, sickle cell anemia, birth of a savior sibling to cure the affected sib.
  2. Cystic fibrosis, fragile X syndrome, Tay Sachs disease, Propionic acidemia,
  3. Disorders related to recurrent spontaneous abortions, fertility etc.
  4. Neurological disorders such as SCA, Huntington Chorea
  5. Muscular disorders such as BMD, DMD
  6. Chromosomal disorders such as microdeletion syndromes, different translocations, inversions, other rearrangements.

and many more.

They also help to carry out specific testing for any specific disorder even if the patient is an outstation patient and taking counseling virtually and help to analyze the reports.