Tests For Genetic Diseases

S.No Disease Genetic Marker Screening Impact of Screening
Estimated Price (per sample)
1 Cardiomyopathy (HCM, DCM,RCM) Panel 1 MYBPC3- 25bp deletion MYH7- exon23 TNNT1- 5bp deletion Genotyping Sequencing 25-30% mutation can be captured by panel1. Once diagnosed it is advisable to screen all the family members for family genetic counselling so that young children with the mutation can be advised for regular clinical check up and life style management Rs 4500/- Rs 3500/- Rs 3000/-/
2 Beta-Thalassemia HBB-whole gene Sequencing Mutation in the HBB gene is known to cause β Thalassemia.Carrier analysis and genetic counselling is advised in case mutation is observed. Rs.3500/- Rs. 2800/- Rs. 2500/-
3 Sickle cell anemia HBB-single mutation Sequencing Problems in sickle cell disease typically begin around 5 to 6 months of age. Gene known to be mutated is HbS. Rs.3500/- Rs. 2800/- Rs.2500/-
4 Cystic fibrosis CFTR –single mutation Delta 508 Sequencing Mutations of the CFTR gene dysregulates epithelial fluid transport in the lung, pancreas and other organs, resulting in Cystic Fibrosis. Rs.3500/- Rs. 2800/- Rs.2500/-
5 LHON disease Panel 1 4 common mutations Panel 2 Whole Mitochondrial Genome Sequencing Sequencing A female (affected or unaffected) with a primary LHON-causing mtDNA pathogenic variant transmits the variant to all of her offspring. Prenatal diagnosis for mitochondrial pathogenic variants is possible if the variant in a family is known Rs.3800/-
Rs. 2800/-
Rs. 25000/-
6 Huntington disease HTT-CAG repeat Fragment analysis Huntington’s disease (HD) is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. Mutations in the HTT gene (CAG trinucleotide repeat) is known to cause Huntington disease. Rs.4000/- Rs.3500/- Rs.2800/-
7 Kennedy disease AR gene-CAG repeat Fragment analysis Also referred to as Spinal and Bulbar Muscular Atrophy (SBMA) develops due to CAG repeat expansion in exon1 of Androgen Receptor gene Rs.4000/- Rs.3500/- Rs.2800/-
8 MTHFR 1298A>C
Sequencing MTHFR is the rate-limiting enzyme in the methyl cycle. Two known common mutations are found to be associated with various diseases Rs.3500/- Rs. 2800/- Rs.2500/-