CytoSure™ Comprehensive FH Panel

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Applications:

Choose your optimal 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.

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.

The CytoSure™ Comprehensive 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

We were previously using another custom panel but found OGT’s custom FH Panel much easier and more cost-effective to work with. From the start we worked very closely with OGT on the design of the panel and were impressed by the support especially with bioinformatics.The ability to call CNV from the NGS data as well as point mutations is also extremely valuable to us. The fact that the panel is pre-optimised has reduced the need for in-house optimisation and decreased our assay development time. Dr Mafalda Bourbon, Head of the Cardiovascular Research Group at the National Health Institute Doutor Ricardo Jorge, Lisbon, Portugal

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.

Ordering information

ProductContentsCat. No.Price
CytoSure Comprehensive FH Panel (16 reactions) Enrichment baits; Interpret Software 601004-16 Get a quote
CytoSure Comprehensive FH Panel (96 reactions) Enrichment baits; Interpret Software 601004-96  Get a quote
SureSeq NGS Library Preparation Complete Solution (16) Bundle of 1x SureSeq library preparation kit (16), containing adaptors, PCR primers and enzymes, 1x SureSeq NGS Index Kit – Collection A, 1x SureSeq Hyb & Wash Kit (16), 1x Dynabeads M270 Streptavidin (2ml) and 1x AMPure XP beads (10ml). Sufficient for 16 samples 500084  Get a quote
SureSeq NGS Library Preparation Complete Solution (48) Bundle of 3x SureSeq NGS Library Preparation Kit (16), containing adaptors, PCR primers and enzymes, 1x SureSeq NGS Index Kit – Collection B, 3x SureSeq NGS Hyb & Wash Kit (16), 3x Dynabeads M270 Streptavidin (2ml) and 3x AMPure XP beads (10ml). Sufficient for 48 samples 500085  Get a quote
SureSeq NGS Library Preparation and Hyb & Wash Kit (16) Bundle of 1x SureSeq NGS Library Preparation Kit (16), containing adaptors, PCR primers and enzymes, 1x SureSeq NGS Index Kit – Collection A and 1x SureSeq Hyb & Wash Kit (16). Sufficient for 16 samples 500082  Get a quote
SureSeq NGS Library Preparation and Hyb & Wash Kit (48) Bundle of 3x SureSeq NGS Library Preparation Kit (16), containing adaptors, PCR primers and enzymes, 1x SureSeq NGS Index Kit – Collection B and 3x SureSeq Hyb & Wash kit (16). Sufficient for 48 samples 500083  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 Hyb & Wash Kit (16) Hybridisation buffer, Wash buffer, Cot and blocking oligos. Sufficient for 16 samples 500075 Get a quote
SureSeq NGS Hyb & Wash Kit (48) Bundle of 3x SureSeq NGS Hyb & Wash Kit (16), containing Hybridisation buffer, Wash buffer, Cot and blocking oligos. Sufficient for 48 samples 500086 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
AMPure® XP beads, 10ml Sample purification beads, sufficient for 16 samples 500081*  Get a quote

 

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

* Only for use with OGT's NGS panels

Disclaimers

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