SureSeq myPanel™ NGS custom FH panel

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Choose your perfect Familial Hypercholesterolemia (FH) panel from our range of fully tested and optimised content.

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For more information about any OGT product or service, please contact us.

Overview

The SureSeq myPanel NGS custom FH panel offers:

  • Hybridisation-based enrichment delivering unparalleled coverage, completeness and uniformity — detect variants with confidence and minimise the requirement for supplementary fill-in with Sanger sequencing
  • Detection of copy number variation (CNV) as well as single nucleotide variants (SNV)  with a single assay
  • Pre-optimised panels that meet your technical requirements — no more laborious in-house optimisation, decreasing assay development time
  • Bespoke panel content — sequence only what’s relevant for your research, increase throughput and save on sequencing reagents
  • Custom CytoSure microarrays — available for confirmation of CNV detection

Getting started with your next SureSeq myPanel NGS Custom FH Panel could not be simpler...

Simply mix and match the gene and hotspot baits that you require for your research to enable analysis of both SNV and CNV from a single assay.

Design your panel now

Ordering Information

Product Contents Cat. No. Price
SureSeq myPanel NGS custom FH panel Enrichment baits; SureSeq Interpret Software various Get a quote

 

SureSeq: For research use only; not for use in diagnostic procedures.

Details

Simply mix and match the gene and hotspot baits that you require for your research to enable analysis of both SNV and CNV from a single assay.

Select from:

All exons*

LDLR PCSK9 APOB LDLRAP1 APOE LIPA STAP1

 

Hotspots*

rs2306283 (SLCO1B1) rs4149056 (SLCO1B1)
rs11220462 Intronic region of ST3GAL4) rs1564348 (Intronic region of SLC22A1)
rs1800562 (coding region on HFE) rs2479409 (upstream  of PCSK9)
rs3757354 (~2kb upstream of MYLIP) rs4299376 (Intronic region of ABCG8)
rs629301 (3prime UTR of CELSR2) rs6511720 (Intronic region on LDLR)
rs8017377 (coding region of NYNRIN) rs1367117 (coding region of APOB)
rs429358 (coding region of APOE) rs7412 (coding region of APOE)

 

*Some genes/hotspots may not be available in your region – contact us for more details

CNV and SNV from a single assay

The hybridisation methodology, combined with our bait design expertise, allows generation of panels with outstanding completeness and coverage uniformity. Together, this allows the areas of CNV to be easily identified within each sample using our proprietary algorithm — delivering an increased understanding of the sample without an increase in cost or time.

See examples showcasing the uniformity of coverage in samples with CNV

A customisable CytoSure microarray for confirmation of CNV using array comparative genomic hybridisation (aCGH) is also available. On an 8x15k array format : ABCG8, APOA5, APOB, APOC2, APOC3, APOE, LDLR, LDLRAP1, LIPA, LPL, PCSK9, and STAP1 were covered by probes giving exon-level resolution, in addition to probes covering the genomic backbone.

Figure 1 (below): CNV in LDLR gene shown using IGV from the Broad Institute (A).

Image A
(A) Red bars indicate areas of CNV (data from aCGH), purple bars represent deleted exons (data from NGS): 5 samples are shown, each with at least one area of CNV. There is complete concordance between the aCGH and NGS data. Note the evenness of the NGS coverage (even peak height) across each exon, allowing the areas of CNV to be easily identified. View the coverage across just the targeted regions in these samples. The data from the custom CytoSure aCGH array, confirms the deletions in LDLR.

Image B(B) A 2 exon deletion corresponding to sample 3 in A.

Image C(C) A deletion of 2 exons and 4 exons, corresponding to sample 5 in A.

Getting started with SureSeq myPanel NGS Custom FH Panel could not be simpler...

NGS Custom FH Panel workflow

Talk to us today about your FH custom my panel

Simply mix and match the gene and hotspot baits that you require for your research to enable analysis of both SNV and CNV from a single assay.

Design your panel now

An FH microarray for confirmation of CNV is also available. Please enquire for further details.

ProductContentsCat. No.Price
SureSeq myPanel NGS custom FH panel Enrichment baits; SureSeq Interpret Software various Get a quote
Sure Seq FFPE DNA Repair Mix (16 reactions) Enzyme mix and buffer sufficient for 16 FFPE DNA samples 500079 Get a quote
SureSeq NGS Library Preparation Kit (16)  Bundle of 1 x library preparation kit (16) containing adaptors, PCR primers and enzymes sufficient for 16 samples and 1 x SureSeq NGS Index Kit – Collection A 500070 Get a quote
SureSeq NGS Library Preparation Kit (48)  Bundle of 3 x library preparation kit (16), containing adaptors, PCR primers and enzymes sufficient for 48 samples and 1 x SureSeq NGS Index Kit – Collection B 500073 Get a quote
SureSeq NGS Index Kit - Collection A (16) 16 different indexes, each sufficient for 4 samples [included with SureSeq NGS Library Preparation Kit (16)] 500071
Get a quote
SureSeq NGS Index Kit - Collection B (48) 48 different indexes, each sufficient for 4 samples [included with SureSeq NGS Library Preparation Kit (48)] 500072 Get a quote

 

SureSeq: For research use only; not for use in diagnostic procedures.

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