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Services
Molecular
Diagnosis
A number of genetic
disorders are known to result from the defects in
a single gene. Although rare in comparison to the
infectious diseases, genetic disorders cause
enormous misery since they may develop in later
life, 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. CCMB 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, tracking inheritance of
the genetic defect in the fetus by performing
prenatal diagnosis on fetal samples (procured at
appropriate stage of pregnancy through hospitals)
and genetic counseling. The diseases analysed
include Hemoglobinopathies, Musculopathies,
Bleeding and clotting disorders and
Neurodegenerative diseases.
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