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Bartter Syndrome panel ATP6V1B1 BSND CA2 CASR CLCNKA CLCNKB CLDN16 CLDN19 FXYD2 HSD11B2 KCNJ1 KCNJ10 KLHL3 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A5 SLC12A7 SLC4A1 SLC4A4 SLC4A5 WNK1

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Product Description

Sample Type: EDTA Blood 3ml, One drop Blood FTA Card, Swabs, 2 uml DNA

Reporting Time: 6 Weeks

Bartter Syndrome panel ATP6V1B1 BSND CA2 CASR CLCNKA CLCNKB CLDN16 CLDN19 FXYD2 HSD11B2 KCNJ1 KCNJ10 KLHL3 NR3C2 SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A2 SLC12A3 SLC12A5 SLC12A7 SLC4A1 SLC4A4 SLC4A5 WNK1 genes will be analysed by PCR and next-generation sequencing of both DNA strands of the entire coding region and the highly conserved exon-intron splice junctions. PCR-based amplicon library capture will be utilized. We have a minimum coverage of 30x for every amplicon.

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.

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