Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

doi:10.1186/s40246-024-00613-9

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Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Human genomics - 10 May 2024

Sheth Harsh, Nair Aadhira, Bhavsar Riddhi, Kamate Mahesh, Gowda Vykuntaraju K, Bavdekar Ashish, Kadam Sandeep, Nampoothiri Sheela, Panigrahi Inusha, Kaur Anupriya, Shah Siddharth, Mehta Sanjeev, Jagadeesan Sujatha, Suresh Indrani, Kapoor Seema, Bajaj Shruti, Devi Radha Rama, Prajapati Ashka, Godbole Koumudi, Patel Harsh, Luhar Zulfiqar, Shah Raju C, Iyer Anand, Bijarnia Sunita, Puri Ratna, Muranjan Mamta, Shah Ami, Magar Suvarna, Gupta Neerja, Tayade Naresh, Gandhi Ajit, Sowani Ajit, Kale Shrutikaa, Jalan Anil, Solanki Dhaval, Dalal Ashwin, Mane Shrikant, Prabha C Ratna, Sheth Frenny, Joshi Chaitanya G, Joshi Madhvi, Sheth Jayesh

Abstract excerpt

BACKGROUND: Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping clinical presentations. Here, we describe a novel low-cost and high-throughput sequencing assay using single-molecule molecular inversion probes (smMIPs) to screen for...

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PMID: 38730490
DOI: 10.1186/s40246-024-00613-9
PMCID: PMC11088154

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