Rarity Bioscience - Tests and Custom Assays

Products

Revolutionary liquid biopsy technology

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.

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

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.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:

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.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:

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.G12DR

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:

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:

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

5ng up to 3300ng

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