Indo-US Symposium on Genetic Neuromuscular Disorders &
Sixth Annual Conference of the Society for Indian Academy of Medical Genetics


"Decoding Genetic Investigations:
Interpretation of NGS and other Genetic Tests in the Clinical Setting"

24th November, 2019

Venue: Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India

Organized by: Department of Medical Genetics, Nizam's Institute of Medical Sciences (NIMS), Hyderabad &
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad


Time Session Speaker Learning Objectives
9.00-9.30 Registration
9.30 am-10.30 am Session 1- Pedigree Drawing and Patterns of Inheritance
9.30 am – 9.50 am Autosomal dominant inheritance Dr Ashwin Dalal Pedigrees and principles of AD inheritance; case scenarios elucidating principles of reduced penetrance and variable expressivity
9.50 am – 10.10 am Autosomal recessive inheritance Dr Shubha Phadke Pedigrees and principles of AR inheritance; case scenarios elucidating principles of pseudodominance, double heterozygosity, compound heterozygosity, role of consanguinity and digenic inheritance
10.10 am – 10.30 am X-linked inheritance Dr Shagun Aggarwal Pedigrees and principles of X-linked inheritance; mechanisms for manifestations in female carriers; case scenarios highlighting X-linked recessive vs semi-dominant vs dominant patterns
10.30 am – 10.50 am: Tea Break
10.50 am-12.10 pm Session 2- Common Monogenic Diseases
10.50 am – 11.10 am Beta Thalassemia Dr Prajnya Ranganath Targeted testing for common mutations and Sanger sequencing of single gene; prenatal testing (along with maternal cell contamination testing); carrier screening in the population
11.10 am – 11.30 am Duchenne muscular dystrophy Dr Koumudi Godbole Utility of genetic testing, MLPA for exonic deletions/ duplications; testing for MLPA-negative patients; carrier screening; prenatal genetic testing
11.30 am – 11.50 am Fragile X syndrome Dr Dhanya Lakshmi N Tests for trinucleotide repeat expansion; issues related to counseling of family members; testing for premutation status (for premature ovarian failure and Fragile X tremor ataxia syndrome)
11.50 pm – 12.10 pm Spinal muscular atrophy Dr Chaitanya Datar Genetic testing technique; utility of genetic testing including determination of copy numbers of SMN2 for targeted therapies; carrier screening of family and general population
12.10 pm- 1.30 pm Session 3- Conventional and Molecular Cytogenetics
12.10 pm – 12.30 pm Trisomy 21 Dr Shagun Agarwal Case scenarios of free trisomy, translocation, and mosaicism; prenatal screening options for Down syndrome; prenatal testing for Down syndrome
12.30 pm – 12.50 pm Chromosomal rearrangements in recurrent pregnancy losses/ fetal anomalies Dr Meenal Aggarwal Issues in counseling of couple and in prenatal testing; further evaluation and counseling related to identification of 'apparently balanced' translocation in fetus; further evaluation and counseling related to incidentally detected chromosomal rearrangement in fetus
12.50 pm – 1.10 pm Multiplex ligation-dependent probe amplification (MLPA) – for microdeletion/ microduplication syndromes Dr Kausik Mandal Technique of MLPA; analysis and interpretation; representative case scenarios; Methylation-specific (MS MLPA)
1.10 pm – 1.30 pm Chromosomal Microarray Dr Shubha Phadke Interpretation of CMA results; representative case scenarios; significance of LOH; copy number variants of uncertain significance; utility in prenatal scenario
1.30 pm-2.30 pm: Lunch
2.30 pm -4.10 pm Session 4- Next Generation Sequencing
2.30 pm – 2.50 pm Next generation sequencing technique Dr Karthik Bharadwaj Variant filtering, software used for analysis
2.50 pm – 3.10 pm NGS- Large gene/ Multigene panel testing Dr Anju Shukla Utility for large gene sequencing versus Sanger sequencing; case scenarios
3.10 pm – 3.30 pm NGS- Clinical Exome Sequencing Dr Sheetal Sharda Utility; case scenarios; limitations
3.30 pm – 3.50 pm NGS- Whole Exome Sequencing Dr Girisha KM Utility in diagnostics; novel genes; variants of uncertain significance; limitations
3.50 pm – 4.10 pm NGS - Whole Genome Sequencing Dr Ashwin Dalal Utility in diagnostics and research; intronic variants; limitations
4.10 pm-4.30 pm: Tea break
4.30-5.30 Interactive Quiz Dr Prajnya Ranganath Experts: Dr Shubha Phadke, Dr Girisha KM, Dr Ashwin Dalal