Mimix™ Myeloid Cancer Panel, gDNA Reference Standard IVD

The Mimix™ myeloid genomic DNA reference standard is a versatile genomic DNA control material, consisting of extracted genomic DNA from a blend of human cancer cell lines. This well-defined, cell line-derived reference standard includes 22 variants across 19 genes pertinent to myeloid cancer.

For In Vitro Diagnostic Use. This product is only available where licensed in accordance with law. Please contact your local representative for availability.

The Mimix Myeloid gDNA reference standard features numerous variants within a single tube, allowing users to handle just one control sample to monitor a significant portion of a targeted sequencing assay simultaneously. This includes 6 insertions/deletions (INDELs), aiding users in optimizing their workflow and assay performance when sequencing complex structural variants. Notably, due to the significance of FLT3 internal tandem duplications (FLT3-ITDs), which occur in nearly 25% of Acute Myeloid Leukemia (AML) patients, we have developed a novel 300bp insertion into FLT3, termed the “ITD300” variant. This desirable feature of the product represents the large insertions found in real patient samples, which are challenging to source for assay validation and optimization. The Mimix Myeloid gDNA reference standard is designed with 15 mutations at a 5% allele frequency to support the calculation of clinically relevant limits of detection (LODs) for somatic workflows. Additionally, the product includes 7 mutations at 10-70% allele frequency to aid in validating higher frequency germline workflows.

 

Technical Product Information

Format: gDNA

Genes covered: ABL1, ASXL1, BCOR, CBL, DNMT3A, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KRAS NPM1, NRAS, RUNX1, SF3B1, TET2, TP53

Allelic frequencies: 5 – 70%

 

Gene

Variant (AA)

CDS mutation

GRCh38 co-ordinates

Expected allelic frequency (%)

NGS allelic frequency (%)

NGS read depth

ABL1

T315I

c.1001C>T

9:130872896

5.00%

5.23%

459

ASXL1

G646Wfs*12

c.1934dup

20:32434638

40.00%

39.66%

348

ASXL1

W796C

c.2388G>T

20:32435100

5.00%

5.36%

522

BCOR

Q1208Tfs*8

c.3621dup

X:40063833

70.00%

68.44%

358

CBL

S403F

c.1208C>T

11:119278278

5.00%

5.62%

1334

DNMT3A

R882C

c.2644C>T

2:25234374

5.00%

6.26%

495

EZH2

R418Q

c.1253G>A

7:148817379

5.00%

4.76%

714

FLT3

D835Y

c.2503G>T

13:28018505

5.00%

4.71%

700

FLT3

ITD300

N/A

13:28033909

5.00%

b

b

GATA1

Q119*

c.355C>T

X:48791978

11.00%

8.05%

298

GATA2

G200Vfs*18

c.599del

3:128485998

35.00%

30.27%

403

IDH1

R132C

c.394C>T

2:208248389

5.00%

4.42%

453

IDH2

R172K

c.515G>A

15:90088606

5.00%

2.62%

535

JAK2

F537-K539>L

c.1611_1616del

9:5070021

5.00%

4.01%

1147

JAK2

V617F

c.1849G>T

9:5073770

5.00%

4.19%

1002

KRAS

G13D

c.38G>A

12:25245347

40.00%

36.04%

419

NPM1

W288Cfs*12

c.860_863dup

5:171410539

5.00%

3.89%

823

NRAS

Q61L

c.182A>T

1:114713908

10.00%

9.40%

628

RUNX1

M267I

c.801G>A

21:34834414

35.00%

29.90%

194

SF3B1

G740E

c.2219G>A

2:197401989

5.00%

3.14%

574

TET2

R1261H

c.3782G>A

4:105243757

5.00%

4.94%

445

TP53

S241F

c.722C>T

17:7674241

5.00%

5.82%

378

 

Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.7

Unit size: 500ng

Concentration: 25ng/µl

Intended Use Statement:
The Mimix™ Myeloid Cancer Panel gDNA reference standard is a well characterized, cell line-derived control material that contains 22 variants across 19 genes relevant to myeloid cancer. It is intended for monitoring next-generation sequencing (NGS) and droplet digital polymerase chain reaction (ddPCR) assays designed to assist in the detection of somatic mutations in human gDNA samples for in vitro diagnostic use.

This control can be used to monitor NGS and ddPCR workflow, test performance, assay variation and helps identify increases in random or systematic errors. This product is for professional laboratory use only.

Intended Use: For In Vitro Diagnostic Use Only.

 

General information

Storage: 4°C

Shipping: Ambient

Expiration: See all product shelf life information

 

Quality control

Allelic frequency: Droplet Digital™ PCR

Quantification: Spectrophotometer

DNA Integrity: Agarose gel electrophoresis

Manufacturing Quality: ISO 13485:2016