Although rare in comparison to the infectious diseases, genetic disorders cause enormous burden since they may develop in later life, and are usually incurable. In the absence of specific treatment, molecular diagnosis, carrier detection, genetic counseling, pre-pregnancy monitoring, pre-implantation genetic diagnosis and prenatal diagnosis for these disorders becomes the best approach to prevent their transmission to next generation. IGHGD provides genetic diagnostic services for close to 30 such monogenic disorders. The strategy is to identify the causal genetic defect in the proband, screen individuals in the family for carrier status, establish inheritance of genetic defect and performing prenatal diagnosis on fetal samples (procures at appropriate stage of pregnancy through hospitals) and genetic counseling. The diseases analyzed include Hemoglobinopathies, Musculopathies and Neurodegenerative diseases.
Analysis of three decade data of IOG demonstrated that 29% accounted single gene disorders. Of them, hemoglobinopathies predominated (43%) followed by Wilsons (32%), hypercholesteremia (11%), DMD (14%) etc.,. Among hemoglobinopathy cases, β-thal carriers accounted for 23% followed by β-thalassemia (13%). The frequency of multifactorial disorders was higher than others and accounted for 60% of overall cases. Nearly 22% of these cases were abnormal and among them cancers predominated with a frequency of 42% followed by thyroid (26%) and stroke (23%).
Molecular diagnosis is becoming an integral part of most clinical investigations due to its pouter to dissect biological phenomena at the level of DNA. The diagnostic services offered are
- Beta Thalassemia – β globin gene
- Wilson’s Disease – ATP7B
- Periodic Syndrome – TNFRSF-1A
- Myeloproliferative neoplasm and chemoresponse in Leukemia – JAK2V617F
- Recurrent Abortions – MTHFR & Factor V Leiden
- Swyer Syndrome – SRY Mutation
The molecular diagnosis and the underlying genetic heterogeneity of the genetic disorders could be elucidated by adapting technological advances like Next Generation Sequencing; exome sequencing etc., that in turn could help genetic testing for early diagnosis, therapeutic interventions and to offer appropriate genetic counseling to the afflicted and their families which will help in reducing the disease burden of the society.
DIAGNOSTIC SERVICES :
- Genetic testing for the following disorders
- Beta Thalassemia
- Wilson’s Disease
- Periodic Syndrome
- Myeloproliferative neoplasm and chemoresponse in Leukemia
- Recurrent Abortions
- Swyer Syndrome