Inclusion of a positive sample in each MLPA or digitalMLPA experiment is not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. You can sometimes obtain a useful positive sample from an online biorepository, such as the one from the Coriell Institute.
We have tested a large number of commercially available positive samples with our MLPA or digitalMLPA probemixes. A list of positive samples that provide useful results and their verified copy number change(s) can be found in the table below. These samples can be used as positive control samples for the specified probemix(es). You are welcome to contact us if you know of other positive samples that can be useful for one of our probemixes.
Important
The quality of cell lines can change, and these samples are not controlled by us. In addition, exon numbering may change and the table may contain inaccuracies. Therefore, all samples should be validated in-house before use.
Notes:
- All samples can be obtained from the Coriell Institute or DSMZ unless noted otherwise. You can find these samples by searching for the sample id on the appropriate website.
- Samples obtained from the Coriell Institute can often be diluted to 10 ng/µl upon arrival.
- Probemixes are specified by their major version. Read more about version numbers of probemixes in this article.
| Probemix(es) | Gene(s) | Sample ID &
sex (m/f) |
Copy number changes detected |
|---|---|---|---|
| D001 | See the product page for positive samples. | ||
| D002 | See the product description on the product page for positive samples. | ||
| D006 | See the product page for positive samples. | ||
| D007 | See the product page for positive samples. | ||
| ME011 | See the product page for positive samples. | ||
| ME012-B | various | Coriell NA00959 (m) | Heterozygous duplication affecting all MGMT probes. All MGMT probes are not methylated. |
| Coriell NA05299 (f) | Heterozygous deletion affecting all MGMT probes. All MGMT probes are not methylated. | ||
| Coriell NA20263 (m) | Heterozygous deletion affecting all MGMT probes. All MGMT probes are not methylated. | ||
| DSMZ ACC-3 (HL-60) (f) | All MGMT probes are not methylated. Some of the reference probe targets are affected by copy number alterations. | ||
| DSMZ ACC-180 (HEP-G2) (m) | Positive for the TERT C228T mutation. All MGMT probes are methylated. Some of the reference probe and control probe targets are affected by copy number alterations. | ||
| DSMZ ACC-277 (DK-MG) (f) | Heterozygous deletion affecting all MGMT probes. Positive for the TERT C250T mutation. All MGMT probes are methylated. | ||
| DSMZ ACC-405 (GMS-10) (m) | Heterozygous deletion affecting all MGMT probes. Positive for the TERT C228T mutation. All MGMT probes are methylated except the probes at 175 and 215 nt. Some of the reference probe targets are affected by copy number alterations. | ||
| DSMZ ACC-431 (42-MG-BA) (m) | Positive for the TERT C228T mutation. All MGMT probes are methylated except the probes at 175. Some of the reference probe targets are affected by copy number alterations. | ||
| DSMZ ACC-569 (MOLP-8) (f) | Heterozygous deletion affecting all MGMT probes. All MGMT probes are not methylated. Some of the reference probe targets are affected by copy number alterations. | ||
| Promega Methylated Human Control DNA | Positive control - all targets are methylated. | ||
| EpigenDx Human High Methylated Genomic DNA | Positive control - all targets are methylated. | ||
| Sigma-Aldrich Methylated Control DNA | Positive control - all targets are methylated. | ||
| ME024 | See the product page for positive samples. | ||
| ME028 | See the product page for positive samples. | ||
| ME029-B | FMR1 | Coriell NA09145 (m) | FMR1 full mutation sample. |
| Coriell NA09237 (m) | FMR1 full mutation sample. | ||
| Coriell NA20231 (m) | FMR1 premutation sample. | ||
| ME031-C | 20q12.32 region | Coriell NA08123 (m) | Heterozygous duplication of the maternal allele affecting the probes for STX16, GNAS-AS1, NESP55, GNASXL, GNAS-A/B, GNAS and NELFCD. Methylation ratio of ~0.33 (33%) expected for NESP55 DMR, and ~0.67 (67%) for GNAS-AS1, GNASXL and GNAS A/B DMRs. |
| ME032 | See the product page for positive samples. | ||
| ME042-C | CDKN2A | Coriell NA02819 (f) | Gain affecting the probes for CDKN2A. IGF2 is methylated. |
| Coriell NA05067 (m) | Gain affecting the probes for CDKN2A. | ||
| MLH1 | Coriell NA04127 (f) | Gain affecting the probes for MLH1. | |
| SOCS1 | Coriell NA06226 (m) | Gain affecting the probes for SOCS1. | |
| Coriell NA08039 (m) | Gain affecting the probes for SOCS1. IGF2 is methylated. | ||
| CACNA1G | Coriell NA04127 (f) | Heterozygous deletion affecting the probes for CACNA1G. CRABP1 is methylated. | |
| Various | DSMZ ACC-022 (REH) (f) | RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | |
| DSMZ ACC-042 (697) (m) | RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| DSMZ ACC-255 (CADO-ES1) (f) | Homozygous deletion affecting the probes for CDKN2A. Gain affecting the probes for CACNA1G. NEUROG1, IGF2 and CRABP1 are methylated. | ||
| DSMZ ACC-427 (DU-4475) (f) | Positive for the BRAF c.1799T>A (p.V600E) mutation. RUNX3, MLH1, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| DSMZ ACC-573 (SU-DHL-8) (m) | RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| DSMZ ACC-581 (HCT-116) (m) | Gain affecting the probes for CACNA1G. RUNX3, NEUROG1, CDKN2A, IGF2, CRABP1 and CACNA1G are methylated. | ||
| ME053-A | 13q12.11-q32.3 region &
17p11.2-p13.1 region & 17q21.33-q22 region |
DSMZ ACC-9 (U-266) (m) | Heterozygous deletion affecting the probes for ZMYM2, CENPJ, BRCA2, N4BP2L, PCCA5, ATP1B2 and AKAP10. Gain affecting the probes for SGCA, COL1A1 and RAD51C. |
| 13q12.11-q32.3 region &
17p11.2-p13.1 region |
DSMZ ACC-10 (K-562) (f) | Heterozygous deletion affecting the probes for ZMYM2, CENPJ, BRCA2, N4BP2L, PCCA5, ATP1B2 and AKAP10. | |
| BRCA2 | DSMZ ACC-573 (SU-DHL-8) (m) | Gain affecting the probes for BRCA2. RAD51C is methylated. | |
| RAD51C | DSMZ ACC-20 (BV-173) (m) | RAD51C is methylated. | |
| ACC-78 (DAUDI) (m) | RAD51C is methylated. | ||
| 17q21.33-q22 region | DSMZ ACC-255 (CADO-ES1) (f) | Gain affecting the probes for SGCA, COL1A1 and RAD51C. | |
| DSMZ ACC-581 (HCT-116) (m) | Gain affecting the probes for SGCA, COL1A1 and RAD51C. | ||
| Various | Zymo Research Human HCT116 DKO Non-Methylated DNA | Gain affecting the probes for SGCA, COL1A1 and RAD51C. Negative control - all targets are non-methylated. | |
| Zymo Research Human HCT116 DKO Methylated DNA | Gain affecting the probes for SGCA, COL1A1 and RAD51C. Positive control - all targets are methylated. | ||
| Promega Methylated Human Control DNA | Positive control - all targets are methylated. | ||
| P002 | See the product page for positive samples. | ||
| P003 | See the product page for positive samples. | ||
| P015 | See the product page for positive samples. | ||
| P016 | See the product page for positive samples. | ||
| P018 | See the product page for positive samples. | ||
| P021 | See the product page for positive samples. | ||
| P022 | See the product page for positive samples. | ||
| P025 | See the product page for positive samples. | ||
| P026 | See the product page for positive samples. | ||
| P027 | See the product page for positive samples. | ||
| P029 | See the product page for positive samples. | ||
| P031 | See the product page for positive samples. | ||
| P032 | See the product page for positive samples. | ||
| P033 | See the product page for positive samples. | ||
| P034 | See the product page for positive samples. | ||
| P035 | See the product page for positive samples. | ||
| P036 | See the product page for positive samples. | ||
| P037 | See the product page for positive samples. | ||
| P038 | See the product page for positive samples. | ||
| P040 | See the product page for positive samples. | ||
| P041 | See the product page for positive samples. | ||
| P042 | See the product page for positive samples. | ||
| P043 | See the product page for positive samples. | ||
| P044 | See the product page for positive samples. | ||
| P045 | See the product page for positive samples. | ||
| P046 | See the product page for positive samples. | ||
| P047-E | 13q14.11-q21.1 region | Coriell NA03330 (m) | Heterozygous duplication affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: all copies methylated. |
| Coriell NA12606 (m) | Heterozygous duplication affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: two copies methylated. | ||
| Coriell NA13721 (m) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy not methylated. | ||
| DSMZ ACC-009 (U-266) (m) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-163 (NCI-H929) (f) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-277 (DK-MG) (f) | Heterozygous deletion affecting the probes for ENOX1, MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. Some of the reference probes are affected by CNAs. | ||
| DSMZ ACC-410 (MFE-28) (f) | Heterozygous deletion affecting the probes for ENOX1, ITM2B, DLEU1 and PCDH8. Homozygous deletion affecting the probes for RB1 and RCBTB2. No methylation data can be derived as both copies of RB1 gene including the CpG106 and CpG85 are deleted. Some of the reference probes are affected by CNAs. | ||
| 13q14.2-q14.3 region | DSMZ ACC-427 (DU-4475) (f) | Heterozygous deletion affecting the probes for MED4, ITM2B and DLEU1. Homozygous deletion affecting the probes for RB1 and RCBTB2. No methylation data can be derived as both copies of RB1 gene including the CpG106 and CpG85 are deleted. | |
| 13q14.2-q21.1 region | Coriell NA14164 (f) | Heterozygous deletion affecting the probes for MED4, ITM2B, RB1, RCBTB2, DLEU1 and PCDH8. RB1 promoter (CpG106) probes: not methylated. RB1 imprinted locus(CpG85) probes: remaining copy methylated. | |
| P049 | See the product page for positive samples. | ||
| P050 | See the product page for positive samples. | ||
| P051 | See the product page for positive samples. | ||
| P052 | See the product page for positive samples. | ||
| P056 | See the product page for positive samples. | ||
| P060 | See the product page for positive samples. | ||
| P061 | See the product page for positive samples. | ||
| P064 | See the product page for positive samples. | ||
| P065 | See the product page for positive samples. | ||
| P066 | See the product page for positive samples. | ||
| P070 | See the product page for positive samples. | ||
| P072 | See the product page for positive samples. | ||
| P073-A | IKBKG | Coriell NA19225 (f) | Heterozygous deletion of IKBKG exon 4-10 (IKBKGexon4_10del mutation). |
| P077 | See the product page for positive samples. | ||
| P078 | See the product page for positive samples. | ||
| P083 | See the product page for positive samples. | ||
| P087 | See the product page for positive samples. | ||
| P088 | See the product page for positive samples. | ||
| P089 | See the product page for positive samples. | ||
| P090 | See the product page for positive samples. | ||
| P091 | See the product page for positive samples. | ||
| P093 | See the product page for positive samples. | ||
| P095 | See the product page for positive samples. | ||
| P098 | See the product page for positive samples. | ||
| P099 | See the product page for positive samples. | ||
| P102 | See the product page for positive samples. | ||
| P103 | See the product page for positive samples. | ||
| P105 | See the product page for positive samples. | ||
| P114 | See the product page for positive samples. | ||
| P118 | See the product page for positive samples. | ||
| P124 | See the product page for positive samples. | ||
| P125 | See the product page for positive samples. | ||
| P137 | See the product page for positive samples. | ||
| P140 | See the product page for positive samples. | ||
| P143 | See the product page for positive samples. | ||
| P155 | See the product page for positive samples. | ||
| P156 | See the product page for positive samples. | ||
| P158 | See the product page for positive samples. | ||
| P163 | See the product page for positive samples. | ||
| P165 | See the product page for positive samples. | ||
| P175 | See the product page for positive samples. | ||
| P178 | See the product page for positive samples. | ||
| P183 | See the product page for positive samples. | ||
| P189 | See the product page for positive samples. | ||
| P190 | See the product page for positive samples. | ||
| P198 | See the product page for positive samples. | ||
| P199 | See the product page for positive samples. | ||
| P202-C | 7p12 region | Coriell NA07081 (m) | Heterozygous duplication affecting the probes for ZPBP, IKZF1, and FIGNL1. |
| Coriell NA10925 (m) | Heterozygous deletion affecting the probes for ZPBP, IKZF1, and FIGNL1. | ||
| DSMZ ACC-546 (SEM) (f) | Heterozygous deletion affecting the probes for ZPBP, IKZF1, and FIGNL1. | ||
| 9p21 region | Coriell NA01750 (m) | Heterozygous duplication affecting the probes for CDKN2A and CDKN2B. | |
| DSMZ ACC-435 (HSB-2) (m) | Homozygous deletion affecting the probes for CDKN2A. | ||
| DSMZ ACC-511 (ALL-SIL) (m) | Homozygous deletion affecting the probes for CDKN2A and CDKN2B. | ||
| 14q32 region | Coriell NA08123 (m) | Heterozygous deletion affecting the probes for CEP170B, MTA1, CRIP2, and IGHD. | |
| 21q region | Coriell NA09868 (f) | Heterozygous deletion affecting the probes for KCNJ6, ERG, and ETS2. | |
| Various | DSMZ ACC-578 ( TOM-1) (f) | Heterozygous deletion affecting the probes for IKZF1 intron 3-exon 8 on chromosome 7p. Homozygous deletion affecting the probes for CDKN2A on chromosome 9p. Heterozygous deletion affecting the probe for IGHD on chromosome 14q. | |
| P207 | See the product page for positive samples. | ||
| P213 | See the product page for positive samples. | ||
| P221 | See the product page for positive samples. | ||
| P225 | See the product page for positive samples. | ||
| P226 | See the product page for positive samples. | ||
| P229 | See the product page for positive samples. | ||
| P236 | See the product page for positive samples. | ||
| P241 | See the product page for positive samples. | ||
| P242 | See the product page for positive samples. | ||
| P244 | See the product page for positive samples. | ||
| P245 | See the product page for positive samples. | ||
| P248 | See the product page for positive samples. | ||
| P250 | See the product page for positive samples. | ||
| P251 | See the product page for positive samples. | ||
| P252 | See the product page for positive samples. | ||
| P253 | See the product page for positive samples. | ||
| P256 | See the product page for positive samples. | ||
| P258 | See the product page for positive samples. | ||
| P260 | See the product page for positive samples. | ||
| P278 | See the product page for positive samples. | ||
| P292 | See the product page for positive samples. | ||
| P297 | See the product page for positive samples. | ||
| P298 | See the product page for positive samples. | ||
| P301 | See the product page for positive samples. | ||
| P302 | See the product page for positive samples. | ||
| P303 | See the product page for positive samples. | ||
| P305 | See the product page for positive samples. | ||
| P308 | See the product page for positive samples. | ||
| P315-C | EGFR | Coriell NA07081 (m) | Heterozygous duplication of the complete EGFR gene. |
| DSMZ ACC-444 (FU-OV-1) (f) | Loss of EGFR. | ||
| P319 | See the product page for positive samples. | ||
| P323-B | 12p &
12q |
DSMZ ACC-200 (COLO-824) (f) | Gain affecting the probes for FOXM1, CCND2 exon 1,CDKN1B, KRAS and KIF21A. Loss affecting the probes for COL2A1, MAP3K12, CDK2, STAT6, GLI1, DDIT3, TSPAN31, CDK4 and CHFR. Some of the reference probes are also affected by CNAs. |
| 12q | DSMZ ACC-237 (IGR-37) (m) | Loss affecting the probes for KIF21A, COL2A1, MAP3K12, CDK2, STAT6, GLI1, DDIT3, TSPAN31, CDK4, MIR26A2, HMGA2, MDM2, YEATS4, ALX1, IGF1, PTPN11, TBX5, HNF1A, PIWIL1, RAN and CHFR. Some of the reference probes are also affected by CNAs. | |
| DSMZ ACC-277 (DK-MG) (f) | Amplification affecting the probes for MDM2. Some of the reference probes are also affected by CNAs. | ||
| DSMZ ACC-517 (HCC-1143) (f) | Gain affecting the probes for STAT6, GLI1, DDIT3, TSPAN31, CDK4 and MIR26A2. Amplification affecting the probes for HMGA2, MDM2 and YEATS4. Some of the reference and flanking probes are also affected by CNAs. | ||
| DSMZ ACC-566 (HCC-827) (f) | Amplification affecting the probes for CDK4, TSPAN31 and HMGA2 exon 1-3. Some of the reference probes are also affected by CNAs. | ||
| Coriell NA02819 (f) | Heterozygous deletion affecting the probes for PIWIL1, RAN and CHFR. | ||
| Coriell NA07981 (m) | Mosaic homozygous duplication affecting the probes for PFOXM1, CCND2, CDKN1B and KRAS. | ||
| Coriell NA08035 (m) | Heterozygous duplication affecting the probes for PFOXM1, CCND2, CDKN1B and KRAS. | ||
| P324 | See the product page for positive samples. | ||
| P327-B | 21q11.2-q21.3 region | Coriell NA00692 (m) | Heterozygous deletion affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15, NCAM2, MIR155 and APP probes. |
| 21q11.2-q22.3 region | Coriell NA02571 (f) | Trisomy 21. All probes targeting chromosome 21 are affected. | |
| 21q11.2-q21.1 region | Coriell NA03503 (m) | Heterozygous duplication affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15 and NCAM2 probes. | |
| 21q11.2-q22.11 region &
21q22.3 region |
Coriell NA05881 (f) | Heterozygous duplication affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15, NCAM2, MIR155, APP, CYYR1, ADAMTS5, BACH1, TIAM1 and PRMT2 probes. | |
| 21q21.3 region | Coriell NA08331 (m) | Heterozygous deletion affecting the APP, CYRR1 and ADAMTS5 probes. | |
| 21q22.13-q22.3 region | Coriell NA09868 (f) | Heterozygous deletion affecting the SIM2, HLCS, DYRK1A, KCNJ6, ERG, ETS2, PSMG1, TMPRSS2, RIPK4, TFF1, ITGB2, SLC19A1, COL6A2 and PRMT2 probes. | |
| 21q22.11 region | Coriell NA13031 (m) | Heterozygous duplication affecting the KCNE2 probe. | |
| P329-B | Xp22.33 / Yp11.32 region | Coriell NA03623 (f) | Heterozygous duplication affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. |
| Coriell NA04626 (f) | Heterozygous duplication affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA09403 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA13019 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA14523 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| Coriell NA20027 (f) | Heterozygous deletion affecting the probes for SHOX, CRLF2, CSF2RA, IL3RA, P2RY8, ZBED1 and CD99. | ||
| P335 | See the product page for positive samples. | ||
| P337 | See the product page for positive samples. | ||
| P338 | See the product page for positive samples. | ||
| P348 | See the product page for positive samples. | ||
| P351 | See the product page for positive samples. | ||
| P352 | See the product page for positive samples. | ||
| P357 | See the product page for positive samples. | ||
| P369 | See the product page for positive samples. | ||
| P370 | See the product page for positive samples. | ||
| P377 | See the product page for positive samples. | ||
| P378 | See the product page for positive samples. | ||
| P380 | See the product page for positive samples. | ||
| P383 | See the product page for positive samples. | ||
| P385 | See the product page for positive samples. | ||
| P386 | See the product page for positive samples. | ||
| P405 | See the product page for positive samples. | ||
| P411 | See the product page for positive samples. | ||
| P414 | See the product page for positive samples. | ||
| P417-B | 3p region | Coriell NA04127 (f) | Heterozygous duplication affecting the probes for MLH1, RMB5, RASSF1 and ZMYND10. |
| DSMZ ACC-203 (SK-N-MC) (f) | Heterozygous deletion affecting all probes for BAP1. The flanking probes are also affected. | ||
| DSMZ ACC-512 (ARH-77) (f) | Heterozygous deletion affecting all probes for BAP1. The flanking probes are also affected. | ||
| P419 | See the product page for positive samples. | ||
| P425 | See the product page for positive samples. | ||
| P426 | See the product page for positive samples. | ||
| P429-C | 2q11.2 region | Coriell NA10401 (f) | Heterozygous duplication affecting the probes for STARD7, TMEM127 and ITPRIPL1. |
| 5p15.33 region | Coriell NA14131 (f) | Heterozygous deletion affecting the probes for CCDC127, SDHA, PDCD6 and TERT. | |
| Coriell NA14523 (f) | Heterozygous duplication affecting the probes for CCDC127, SDHA, PDCD6 and TERT. | ||
| 14q23.1-q24.3 region | Coriell NA05966 (m) | Heterozygous duplication affecting the probes for COTX2, MAX, RDH12 and NPC2. | |
| P433-A | ARID1B | Coriell NA06802 (m) | Heterozygous deletion affecting the probes for ARID1B. |
| Coriell NA07994 (m) | Heterozygous duplication affecting the probes for ARID1B. | ||
| P437-B | 3q26.2 | Coriell NA10175 (m) | Heterozygous duplication affecting the probes for TERC. |
| Coriell NA11428 (f) | Heterozygous duplication affecting the probes for TERC. | ||
| Coriell NA20022 (m) | Heterozygous duplication affecting the probes for TERC. | ||
| 5p15.33 | Coriell NA14523 (f) | Heterozygous duplication affecting the probes for TERT. | |
| Coriell NA14131 (f) | Heterozygous deletion affecting the probes for TERT. | ||
| 21q22.12 | Coriell NA01201 (f) | Heterozygous deletion affecting the probes for RUNX1. | |
| 3q21.3 region
3q26.2 region 5p15.33 region 19q13.1 region |
DSMZ MFE-280 (f) | Gain affecting the probes for GATA2, TERC, TERT, TERC and CEBPA. Some of the reference probes are affected by CNAs. | |
| 3q21.3-3q26.2 region | DSMZ SK-N-MC (f) | Gain affecting the probes for GATA2 and TERC. | |
| P440 | See the product page for positive samples. | ||
| P445 | See the product page for positive samples. | ||
| P446 | See the product page for positive samples. | ||
| P453 | See the product page for positive samples. | ||
| P456 | See the product page for positive samples. | ||
| P460 | See the product page for positive samples. | ||
| P461 | See the product page for positive samples. | ||
| P466-A | 1p22.1-q31.3 | Coriell NA00214 (m) | Heterozygous deletion affecting the probes for TROVE2, GLRX2, CDC73, B3GALT2, LINC01031 and KCNT2. |
| 1q31.2 | DSMZ ACC-9 (U-266) (m) | Heterozygous deletion affecting the probes for TROVE2, GLRX2 and CDC73 exon 1-2. | |
| P470 | See the product page for positive samples. | ||
| P472-A | 10q24.32 region | Coriell NA00959 (m) | Heterozygous duplication affecting the probes for ACTR1A, SUFU and TRIM8. |
| Coriell NA08386 (f) | Heterozygous duplication affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| Coriell NA20125 (m) | Heterozygous duplication affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| DSMZ ACC-203 (f) | Heterozygous deletion affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| DSMZ ACC-259 (m) | Heterozygous deletion affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| DSMZ ACC-569 (m) | Heterozygous deletion affecting the probes for ACTR1A, SUFU and TRIM8. | ||
| P473 | See the product page for positive samples. | ||
| P475 | See the product page for positive samples. | ||
| P478-A | 17q21.2-q23.2 region | DSMZ ACC-180 (HEP-G2) (m) | Gain affecting the probes for TNS4, CCR7, SMARCE1, KRT222, KRT24 and BRIP1. Some of the reference probes are also affected by CNAs. |
| 17p13.2 region &
17q21.2 region |
DSMZ ACC-259 (HUP-T3) (m) | Heterozygous deletion affecting the probe for AIPL1. Gain affecting the probes for TNS4, CCR7, SMARCE1, KRT222 and KRT24. Some of the reference probes are also affected by CNAs. | |
| 17p13.2 region &
17q21.2 region |
DSMZ ACC-410 (MFE-280) (f) | Gain affecting the probes for AIPL1, FLCN, TNS4, CCR7, SMARCE1, KRT222 and KRT24. Some of the reference probes are also affected by CNAs. | |
| P479 | See the product page for positive samples. | ||
| P480 | See the product page for positive samples. | ||
| P481-A | 16p11.2 region | Coriell NA05875 (f) | Heterozygous deletion affecting the probes for ZNF843, ARMC5 and TGFB1I1. |
| 17p11.2,
17q23.2-q24.2 region |
DSMZ ACC-49 (L-363) (f) | Heterozygous duplication affecting the probes for FLCN (17p arm), BRIP1, AXIN2, SLC16A6, ARSG, WIPI1, PRKAR1A and FAM20A, and one reference probe at 250 nt. | |
| P482-A | DICER1 | Coriell NA10074 (m) | Heterozygous duplication affecting all DICER1 probes. Flanking probes are also affected. |
| Coriell NA13410 (m) | Heterozygous duplication affecting all DICER1 probes. Flanking probes are also affected, except the RPGRIP1 probe. | ||
| DSMZ ACC-49 (L-363) (f) | Deletion affecting all DICER1 probes. Flanking probes are also affected, except the RPGRIP1 probe. Some of the reference probes are affected by CNAs. | ||
| P483 | See the product page for positive samples. | ||
| P490 | See the product page for positive samples. | ||
| P492 | See the product page for positive samples. | ||
| P494 | See the product page for positive samples. | ||
| P496 | See the product page for positive samples. | ||
| P520-A | JAK2 | Horizon Discovery provides a JAK2 p.V617F reference standard (catalog number HD649; HD652 is a wild type reference standard). | |
| The NIBSC Institute provides a JAK2 p.V617F WHO reference panel (catalog number 16/120). | |||
| KIT | AccuRef Quan-Plex™ NGS Reference Standard Genomic DNA (catalog number ARF-1001G-1) can be used as reference for the KIT p.D816V mutation; Onco-Ref™ Genomic DNA Reference Standard HCT116 WT (catalog number ASO-6052-1) can be used as wild-type control. | ||