Genetic Glycosylation disorder panel NGS Panel

Genetic Glycosylation disorder panel NGS Panel: ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1 DNA Test

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The congenital disorders of glycosylation (CDG) were originally called carbohydrate-deficient glycoprotein syndromes (CDGS) and are a subset of genetic defects affecting primarily N-glycan assembly. The broad clinical features involve many organ systems but especially the development of certain regions of the brain and functions of the gastrointestinal, hepatic, visual, and immune systems, indicating the importance of normal glycosylation in their functions. The variability of clinical features makes it difficult for physicians to recognize CDG patients.

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Next Generation Sequencing (NGS) technologies have emerged as a powerful tool for the discovery of causative mutations in rare Mendelian disease genes and are rapidly impacting genetic diagnostics. NGS technologies can be used in combination with DNA enrichment methods to generate deep sequencing of target genome regions, such as the exome or known disease loci, delivering fast, inexpensive, and detailed genetic information.

NGS coupled with genomic capture technologies represents an important milestone in genomics, revolutionizing the ways geneticists screen for disease-causing mutations in Mendelian disorders. This has shifted the focus of molecular analysis in human diseases from Sanger sequencing and array-based methods to deep sequencing of linkage intervals, candidate regions or exomes at higher resolution and greater sensitivity than what was previously possible.

Due to recent tremendous progress, current technologies utilizing NGS, based on shotgun approaches, are able to sequence in excess of one billion short reads in parallel per instrument run. It is interesting to note that NGS technologies are able detect all kinds of sequence variants in a single experiment, including SNVs, InDels and SVs, providing investigators access to a large spectrum of de novo and rare inherited variant (those with frequencies <1%) mutations, which are often omitted in standard genotyping panels.

NGS, combined with targeted enrichment and robust bioinformatics analyses, provides a rapid, cost-effective approach for identifying causative mutations and novel Mendelian disease genes.

Reporting Time : 8 weeks (From the day sample reaches our Lab)
Whole blood: Send in EDTA Tubes (Purple Top Vacutainer)
Blood Spots FTA Cards
Check Sample Buccal Swabs
Whole blood: Send in EDTA Tubes (Purple Top Vacutainer)
Blood Spots FTA Cards
Check Sample Buccal Swabs

At DNA Labs India, we are dedicated to quality DNA testing. We know that you need accurate, reliable results for such an important test, and we are committed to providing you with high quality DNA testing services. By choosing DNA Labs India, you will receive the highest quality, most conclusive results in the industry.

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