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Rarity Bioscience - Tests and Custom Assays

Assays and services

Revolutionary liquid biopsy technology

”The superRCA technology is extremely sensitive, which opens the possibilities to study and detect minimal residual disease and relapse at much lower levels with higher accuracy.

Apart from powerful the technology, the Rarity team is very professional and easy to work with.”

– Lucia Cavelier, Co-Director Clinical Genomics Platform SciLifeLab and Co-Chair GMS-hematology

Available assays

Tumor panels

Below is a list of available multiplex tumor panels for research use. Each assay can be run in single- or multiplex format from the same sample at uncompromised sensitivity

Gene-specific tests

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

Custom assays

superRCA technology can be applied to detect customer sequences.

Available services

Sample analysis service

Have your samples analyzed

Using the superRCA technology our sample analysis team rapidly detects rare DNA mutations in various tissues, including cfDNA from liquid biopsies.

Our services include analysis using pre-defined tumor panels for leukemia, colorectal- and lung cancer, and gene specific assays as shown below.

Should you not find your mutations of interest below, our sample analysis team can rapidly design custom mutation panels or gene specific assays.

Our team can assist with:

  • DNA extraction
  • Assay design & verification
  • Sample analysis
  • Data processing
  • Delivery of results


Contact us for further discussion or quote

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Contact me regarding sample analysis

Simply submit this form and one of our experts will contact you shortly

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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  • Husargatan 3, BMC C10;1
  • 752 37 Uppsala, Sweden
  • © Copyright 2023

Panel:

AML

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:

AML

Assay Name:

IDH1 p.R132G

Gene Name

isocitrate dehydrogenase 1 (NADP+), soluble

Gene Symbol:

IDH2

COSMIC ID:

COSM28749

Amino Acid Change:

p.R132G

Nucleotide Mutation:

c.394C>G

dbSNP

rs121913499

Targeting sequence:

TCATAGGT[C/G]GTCATGCT

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

AML

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:

AML

Assay Name:

IDH1 p.R132S

Gene Name

isocitrate dehydrogenase 1 (NADP+), soluble

Gene Symbol:

IDH2

COSMIC ID:

COSM28748

Amino Acid Change:

p.R132S

Nucleotide Mutation:

c.394C>A

dbSNP

rs121913499

Targeting sequence:

TCATAGGT[C/A]GTCATGCT

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

AML

Assay Name:

IDH1 p.R132L

Gene Name

isocitrate dehydrogenase 1 (NADP+), soluble

Gene Symbol:

IDH2

COSMIC ID:

COSM28750

Amino Acid Change:

p.R132L

Nucleotide Mutation:

c.395G>T

dbSNP

rs121913500

Targeting sequence:

CATAGGTC[G/T]TCATGCTT

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

AML

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:

AML

Assay Name:

IDH2 p.R140W

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Gene Symbol:

IDH2

COSMIC ID:

COSM41877

Amino Acid Change:

p.R140W

Nucleotide Mutation:

c.418C>T

dbSNP

rs11540478

Targeting sequence:

AACTATC[C/T]GGAACATC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

AML

Assay Name:

IDH2 p.R140L

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Gene Symbol:

IDH2

COSMIC ID:

COSM41875

Amino Acid Change:

p.R140L

Nucleotide Mutation:

c.419G>T

dbSNP

rs11540478

Targeting sequence:

AACTATCC[G/T]GAACATC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

AML

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

Panel:

AML

Assay Name:

IDH2 p.R172M

Gene Name

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Gene Symbol:

IDH2

COSMIC ID:

COSM33732

Amino Acid Change:

p.R172M

Nucleotide Mutation:

c.515G>T

dbSNP

rs121913503

Targeting sequence:

CATTGGCA[G/T]GCACGCCC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 1320ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel / CRC

Assay Name:

KRAS p.G12C

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM516

Amino Acid Change:

P.G12C

Nucleotide Mutation:

c.34G>T

dbSNP

rs121913530

Targeting sequence:

AGTTGGAGCT[G/T]GTGGCGTAGG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel / CRC

Assay Name:

KRAS p.G12R

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM518

Amino Acid Change:

P.G12R

Nucleotide Mutation:

c.34G>C

dbSNP

rs121913530

Targeting sequence:

AGTTGGAGCT[G/T]GTGGCGTAGG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel / CRC

Assay Name:

KRAS p.G12S

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM517

Amino Acid Change:

P.G12S

Nucleotide Mutation:

c.34G>A

dbSNP

rs121913530

Targeting sequence:

AGTTGGAGCT[G/A]GTGGCGTAGG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel / CRC

Assay Name:

KRAS p.G12A

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM522

Amino Acid Change:

P.G12A

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

Panel:

Lung Cancer Panel / CRC

Assay Name:

KRAS 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

Panel:

Lung Cancer Panel / CRC

Assay Name:

IKRAS p.G12V

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM520

Amino Acid Change:

P.G12V

Nucleotide Mutation:

c.35G>T

dbSNP

rs121913529

Targeting sequence:

GTTGGAGCTG[G/T]TGGCGTAGGC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

Lung Cancer, CRC

Assay Name:

KRAS p.G13D

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM532

Amino Acid Change:

p.G13D

Nucleotide Mutation:

c.38G>A

dbSNP

rs112445441

Targeting sequence:

AGCTGGTG[G/A]CGTAGGCA

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel / CRC

Assay Name:

KRAS p.Q61L

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM553

Amino Acid Change:

P.Q61L

Nucleotide Mutation:

c.182A>T

dbSNP

rs121913240

Targeting sequence:

ACAGCAGGTC[A/T]AGAGGAGTAC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

Lung Cancer Panel / CRC

Assay Name:

KRAS p.Q61H

Gene Name

Kirsten rat sarcoma viral oncogene homolog

Gene Symbol:

KRAS

COSMIC ID:

COSM554

Amino Acid Change:

p.Q61H

Nucleotide Mutation:

c.183A>C

dbSNP

rs17851045

Targeting sequence:

ACAGCAGGTC[A/T]AGAGGAGTAC

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

CRC

Assay Name:

NRAS p.G12D

Gene Name

neuroblastoma ras oncogene

Gene Symbol:

NRAS

COSMIC ID:

COSM564

Amino Acid Change:

p.G12D

Nucleotide Mutation:

c.35G>A

dbSNP

rs121913237

Targeting sequence:

TGGAGCAG[G/A]TGGTGTTG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

CRC

Assay Name:

NRAS p.Q61R

Gene Name

neuroblastoma ras oncogene

Gene Symbol:

NRAS

COSMIC ID:

COSM584

Amino Acid Change:

p.Q61R

Nucleotide Mutation:

c.182A>G

dbSNP

rs11554290

Targeting sequence:

AGCTGGAC[A/G]AGAAGAGT

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

CRC

Assay Name:

PIK3CA p.E542K

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Gene Symbol:

PIK3CA

COSMIC ID:

COSM760

Amino Acid Change:

p.E542K

Nucleotide Mutation:

c.1624G>A

dbSNP

rs121913273

Targeting sequence:

GATCCTCTCTCT[G/A]AAATCACT

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

CRC

Assay Name:

PIK3CA p.E545K

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Gene Symbol:

PIK3CA

COSMIC ID:

COSM763

Amino Acid Change:

p.E545K

Nucleotide Mutation:

c.1633G>A

dbSNP

rs104886003

Targeting sequence:

AAATCACT[G/A]AGCAGGAG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

Regulatory Status

Research use only

Panel:

CRC

Assay Name:

PIK3CA p.H1047R

Gene Name

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Gene Symbol:

PIK3CA

COSMIC ID:

COSM775

Amino Acid Change:

p.H1047R

Nucleotide Mutation:

c.3140A>G

dbSNP

rs121913279

Targeting sequence:

TGATGCAC[A/G]TCATGGTG

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

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

Assay Name:

BRAF p.V600K

Gene Name

B-Raf proto-oncogene, serine/threonine kinase

Gene Symbol:

BRAF

COSMIC ID:

COSM473

Amino Acid Change:

p.V600K

Nucleotide Mutation:

c.1798_1799delinsAA

dbSNP

rs121913227

Targeting sequence:

CTAGCTACA[GT/AA]GAAATCTCGA

Sample input

genomic DNA, ctDNA (plasma)

Input range

5ng up to 66ng

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

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