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Rarity Bioscience - Tests and Custom Assays

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Revolutionary liquid biopsy technology.

Gene-specific tests

Below is a list of available genes and mutation targets for service testing. The assay can in principal be set up to detect any mutation with a known sequence. Contact us for additional mutations or multiplex set up for high throughput.

Select the plus below to read more about each genes and mutation targets.

Custom Assays

superRCA technology can be applied to detect customer sequences.

Unique features

  • Parallel target analysis using same sample. Due to the unique superRCA technology, multiple mutations can be analyzed using the same sample.
  • Multiplex setup for high cost efficient and high throughput analysis
  • Extreme sensitivity, for most mutations in the range of 1:100,000
  • High detection efficiency to optimize sensitivity for low sample input
  • High GC mutations can be analyzed with unparallel precision, such as ASXL1 and SRSF2
  • Dynamic range to manage sample volumes from 5ng up to 1320ng
  • Handles most types of DNA input, such as cfDNA from plasma, genomic DNA from tumors or white blood cells
  • Internal quality controls ensures accurate and reliable data, always

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  • 752 37 Uppsala, Sweden
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Panel:

IDH1/2 Panel

Assay Name:

IDH1 p.R132C

Gene Name

isocitrate dehydrogenase 1 (NADP+), soluble

Gene Symbol:

IDH1

COSMIC ID:

COSM28747

Amino Acid Change:

p.R132C

Nucleotide Mutation:

c.394C>T

dbSNP

RS121913499

Targeting sequence:

CATCATAGGT[C/T]GTCATGCTTA

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

IDH1/2 Panel

Assay Name:

IDH1 p.R132H

Gene Name

isocitrate dehydrogenase 1 (NADP+), soluble

Gene Symbol:

IDH1

COSMIC ID:

COSM28747

Amino Acid Change:

p.R132H

Nucleotide Mutation:

c.395G>A

dbSNP

rs121913500

Targeting sequence:

ATCATAGGTC[G/A]TCATGCTTAT

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

IDH1/2 Panel

Assay Name:

IDH2 p.R140Q

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Gene Symbol:

IDH2

COSMIC ID:

COSM41590

Amino Acid Change:

p.R140Q

Nucleotide Mutation:

c.419G>A

dbSNP

rs11540478

Targeting sequence:

GGAACTATCC[G/A]GAACATCCTGGGG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

IDH1/2 Panel

Assay Name:

IDH2 p.R172K

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Gene Symbol:

IDH2

COSMIC ID:

COSM33733

Amino Acid Change:

p.R172K

Nucleotide Mutation:

c.515G>A

dbSNP

rs121913503

Targeting sequence:

ACCATTGGCA[G/A]GCACGCCCAT

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Assay Name:

ASXL1 p.G646Wfs*12

Gene Name

ASXL transcriptional regulator 1

Gene Symbol:

ASXL1

COSMIC ID:

COSM34210

Amino Acid Change:

p.G646Wfs*12

Nucleotide Mutation:

c.1934dup

dbSNP

rs750318549

Targeting sequence:

ATCGGAGGGG[-/G]GGGGTGGCCC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

SRSF2

Assay Name:

SRSF2 p.P95H

Gene Name

serine and arginine rich splicing factor 2

Gene Symbol:

SRSF2

COSMIC ID:

COSM211504

Amino Acid Change:

p.P95H

Nucleotide Mutation:

c.284C>A

dbSNP

rs751713049

Targeting sequence:

TACGGCCGCC[C/A]CCCGGACTCA

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

SRSF2

Assay Name:

SRSF2 p.P95L

Gene Name

serine and arginine rich splicing factor 2

Gene Symbol:

SRSF2

COSMIC ID:

COSM144994

Amino Acid Change:

p.P95L

Nucleotide Mutation:

c.284C>T

dbSNP

rs751713049

Targeting sequence:

TACGGCCGCC[C/T]CCCGGACTCA

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

SRSF2

Assay Name:

SRSF2 p.P95R

Gene Name

Serine and arginine rich splicing factor 2

Gene Symbol:

SRSF2

COSMIC ID:

COSM144995

Amino Acid Change:

p.P95R

Nucleotide Mutation:

c.284C>G

dbSNP

rs751713049

Targeting sequence:

TACGGCCGCC[C/G]CCCGGACTCA

Sample input

Genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel

Assay Name:

EGFR p.T790M

Gene Name

Epidermal Growth Factor Receptor

Gene Symbol:

EGFR

COSMIC ID:

COSM6240

Amino Acid Change:

p.T790M

Nucleotide Mutation:

c.2369C>T

dbSNP

rs121434569

Targeting sequence:

CAGCTCATCA[C/T]GCAGCTCATG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 3300ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel

Assay Name:

EGFR p.L858R

Gene Name

Epidermal Growth Factor Receptor

Gene Symbol:

EGFR

COSMIC ID:

COSM6224

Amino Acid Change:

p.L858R

Nucleotide Mutation:

c.2573T>G

dbSNP

rs121434568

Targeting sequence:

GATTTTGGGC[T/G]GGCCAAACTG

Sample input

5ng up to 3300ng

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel

Assay Name:

BRAF p.V600E

Gene Name

B-Raf proto-oncogene, serine/threonine kinase

Gene Symbol:

BRAF

COSMIC ID:

COSM476

Amino Acid Change:

p.V600E

Nucleotide Mutation:

c.1799T>A

dbSNP

rs113488022

Targeting sequence:

CTAGCTACAG[T/A]GAAATCTCGA

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 3300ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel / CRC

Assay Name:

IKRAS p.G12D

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM521

Amino Acid Change:

P.G12D

Nucleotide Mutation:

c.35G>A

dbSNP

RS121913529

Targeting sequence:

GTTGGAGCTG[G/A]TGGCGTAGGC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only