MLPA kity MRC Holland

Amplia s.r.o. je exkluzívnym distribútorom MLPA kitov výrobcu MRC Holland pre Slovensko 

NOVINKA:

MRC Holland rozširuje svoju líniu digitalMLPA diagnostických kitov o 2 nové nový produkty:

SALSA digitalMLPA Probemix D006-A1 Multiple Myeloma


SALSAP066digitalMLPA Probemix D007-B1 Acute Lymphoblastic Leukemia (ALL)


 

D006-A1 Multiple Myeloma je určený na detekciu delécií alebo amplifikácií génov a chromozomálnych oblastí, ktoré sú pri mnohopočetnom myelóme zmenené, ako je 1p, 1q, 13q a 17p, ako aj na detekciu bodovej mutácie BRAF p.V600E. digitalMLPA D006-A1 Multiple Myeloma kit obsahuje 644 prób, z ktorých je 189 cieľových, detegujúcich zmenu početnosti jednotlivých oblastí DNA.

 

D007-B1 Acute Lymphoblastic Leukemia (ALL) je určený na detekciu delécií alebo amplifikácií v 73 špecifických cieľových génoch a ôsmich chromozomálnych oblastiach. digitalMLPA D007-B1 Acute Lymphoblastic Leukemia (ALL) kit obsahuje 951 prób, z ktorých je 524 cieľových, detegujúcich zmenu početnosti jednotlivých oblastí DNA.

 

Oba nové SALSA digitalMLPA kity používajú osvedčenú multiplex MLPA PCR, nasledovanú sekvenovaním na platformách Illumina a rozširujú ponuku už existujúceho digitalMLPA kitu:

SALSA digitalMLPA Probemix D001-D1 Hereditary Cancer Panel 1

 

Informácie k jednotlivým digitalMLPA kitom nájdete na linku https://www.mrcholland.com/technology/digitalmlpa/applications

 

pričom všeobecný popis a pracovné návody digitalMLPA je na linku https://support.mrcholland.com/downloads/files/digitalmlpa-general-protocol





Princíp digitalMLPA:




Veríme, že tieto nové digitalMLPA kity Vám umožnia rýchlejšiu a komplexnejšiu analýzu klinických vzoriek. V prípade akýchkoľvek otázok k digitalMLPA sme Vám k dispozícii.

SALSA FFPE Solution(SFS, kat. číslo SMR05 SFS) umožňuje jednoduchú a rýchlu izoláciu DNA v jedinej mikroskúmavke, pričom získaná DNA je vhodná pre MLPA analýzu.

Použitie SALSA FFPE Solution poskytuje laboratóriu niekoľko významných výhod:

  • Bez potreby deparafinizácie ani xylénú
  • Všetky kroky prebiehajú v jednej skúmavke
  • Extrakcia poskytuje vysoký výťažok DNA
  • Nízka cena za izoláciu (0,8 Eur/izolácia)
  • Jednoduchý izolačný protokol

   


Vytvorte si svoje osobné konto a budete mať prístup ku knižniciam použitých sond a automaticky budete získavať  informácie o novinkách a zmenách v kitoch z okruhu vášho záujmu.   

MLPA - zlatý štandard v určovaní početnosti DNA kópií, využívaná v oblasti dedičných porúch a v onkológii.  

MLPA (Multiplex Ligation-dependent Probe Amplification) je multiplex PCR metóda, pomocou ktorej je možné  detegovať abnormálnu početnosť až 50 rôznych genomických DNA alebo RNA sekvencií, ktoré sa môžu líšiť iba v jednom nukleotide. 

Metóda MLPA je založená na ligácii dvoch sond a následnej amplifikácii. Sondy sú navrhnuté tak, aby sa v prípade hybridizácie na komplementárne vlákna cieľovej DNA vzájomne dotýkali. Po následnej ligácii oboch sond nasleduje amplifikačný proces, pričom koncové časti sond fungujú ako templáty. Amplifikujú sa teda ligované sondy, nie samotná DNA klinickej vzorky. Rôzne páry sond obsahujú rôzne identifikačné sekvencie, ktoré umožňujú nielen testovať, ale najmä spoľahlivo identifikovať viaceré miesta v analyzovanom genóme.  

Typická MLPA reakcia pozostáva z 5 krokov: 

  • DNA denaturácia a hybridizácia s MLPA sondou
  • Ligácia
  • PCR amplifikácia
  • Kapilárno-elektroforetická separácia PCR produktov
  • Analýza dát

MLPA detekcia je jednoduchá a môže byť vykonávaná v akomkoľvek laboratóriu, ktoré je vybavené termocyklérom a kapilárnou elektroforézou. Výsledky analýzy je možné získať do 24 hodín. 

Princíp MLPA reakcie od prípravy po analýzu dát: 

MRC Holland, výrobca MLPA kitov, poskytuje viac než 400 rôznych panelov, určených na detekciu frekventných a vzácnych ochorení.  

Výhody MLPA v porovnaní s inými detekčnými metódami (sekvenovanie, DHPLC, FISH, CGH array): 

  • jednoduchá detekcia početností DNA/RNA sekvencií (vs. sekvenovanie, DHPLC)
  • analýza mikrodelécií (vs. FISH)
  • analýza krátkych (50-70 nt) sekvencií (vs. FISH)
  • možnosť analýzy v multiplex režime
  • nízka cena vyšetrenia (vs. CGH array)
  • jednoduchosť analýzy

Amplia s.r.o. dodáva kompletný sortiment MLPA kitov v atraktívnych cenách a s rýchlym dodaním. 

Detailné informácie o jednotlivých produktoch, ako aj manuály ku konkrétnym SALSA MLPA Probemixom nájdete na domovskej stránke výrobcu: www.mrcholland.com

Výrobca poskytuje aj bezplatný analytický software Coffalyser.Net, ktorý umožňuje spracovať vaše dáta v*.FSA, *.AB1, *.ABI formátoch. 

Knižnica dokumentov k špecifickým próbam (Probemix datasheets library) je pravidelne aktualizovaná a dokumenty môžu obsahovať dôležité oznámenia o zmenách či vylepšeniach jednotlivých MLPA prób. Prístup k týmto informáciám získate po vytvorení si svojho osobného konta na na tomto odkaze.

Všeobecné protokoly na stiahnutie z web stránky výrobcu: 

  • Protokol pre detekciu a kvantifikáciu sekvencií nukleových kyselín  – MLPA protokol  
  • Protokol pre detekciu a kvantifikáciu nukleových kyselín a metylačné profilovanie – MS-MLPA protokol  

Cenník 2025 vybraných produktov

Kompletný cenník 2025 MRC Holland produktov

V prípade potrieb môžete využiť novú podporu zo strany výrobcu,  určenú na priame spracovanie Vašich  MLPA otázok, požiadaviek, komentárov k produktom či spracovanie „raw data“ súborov cez online formulár na stránke support.mrcholland.com

Informácia o Bezpečnostnom liste - No Safety Data Sheet Required Statement 

Zoznam SALSA MLPA kitov, ktoré boli modifikované
P216SALSA MLPA Probemix P216 Growth Hormone DeficiencyOne reference probe has been replaced, one target probe length has been adjusted and one target probe has been removed
P298SALSA MLPA Probemix P298-A2 BRAF-HRAS-KRAS-NRASAs compared to the previous A1 lot, minor adjustments in the lengths of the probes have been made
P079
SALSA MLPA Probemix P079 OTC
One reference probe has been replaced
P382
SALSA MLPA Probemix P381 COL11A1 mix 2
One COL11A1 probe has been removed, five reference probes have been replaced and two probe lengths have been adjusted
P381
SALSA MLPA Probemix P381 COL11A1 mix 1
Eight reference probes have been replaced and one reference probe has been removed
ME031
SALSA MLPA Probemix ME031-C1 GNAS
Eight target, one flanking, and four reference probes were replaced; two target and one reference probe removed; 11 target probes were added; four target, one digestion control and three reference probes were changed in length, not in sequence detected
P439
SALSA MLPA Probemix P439-C1 COL4A3
Five target and five reference probes were replaced, one target probe was removed and one target probe was added. Five target and one reference probe were changed in length, not in sequence detected
P329
SALSA MLPA Probemix P329-B1 CRLF2-CSF2RA-IL3RA
One IL3RA probe and one flanking probe have been removed, one flanking probe has been replaced, the majority of the reference probes have been revised, and several probes have a change in length but not in the sequence detected
P326
SALSA MLPA Probemix P326-B1 LARGE1
Two target probes have been replaced, three target probes have been added, four reference probes have been replaced and 28 probes have been changed in length, not in sequence detected
P236
SALSA MLPA Probemix P236 CFH Region
New probes targeting CFHR4 and CFH have been added and several target probes have been replaced, most reference probes have been replaced and the flanking probes have been removed, The probes detecting polymorphic sequences have been removed
P395
SALSA MLPA Probemix P395 MECF2-FOX1G
One target probe has been replaced, two target probes have been added, six reference probes have been replaced, and four target probes have been changed in length, not in sequence detected
P138
SALSA MLPA Probemix P138-D1 SLC2A1-STXBP1
Four reference probes have been replaced and one removed. One target probe has been added for STXBP1 and four probe lengths have been adjusted
ME028
SALSA MLPA Probemix ME028-D1 Prader-Willi/Angelman
Two SNRPN M-probes added, one digestion control and one reference probe replaced, two probes adjusted in length, not in sequence detected
P351
SALSA MLPA Probemix P351 PKD1
Two PKD1 probes added and two replaced. One TSC2 probe and four reference probes replaced. Three PKD1 probes changed in length.
P352
SALSA MLPA Probemix P352 PKD1-PKD2
Three PKD1 probes and one PKD2 probe added. One PKD2 probe and one reference probe replaced. Three probes changed in length.
P429
SALSA MLPA Probemix P352SDHA-MAX

Four probes for TMEM127 and two probes for SDHA have been added, and one MAX probe has been replaced. Reference probes and flanking probes have been revised. With the addition of TMEM127 probes the name of this probemix has also been changed from SDHA-MAX to SDHA-MAX-TMEM127

P335
SALSA MLPA Probemix P335 ALL-IKZF1
C2 Version - Lengths of several probes are adjusted but no changes in the sequences detected
ME032
SALSA MLPA Probemix ME032 UPD7-UPD14
B1 version - Six PLAGL1 target probes removed, nine target probes replaced and nine target probes added; two digestion control probes replaced; 11 reference probes replaced, one reference probe removed; two target probes changed in length, not in sequence detected.
P178
SALSA MLPA Probemix P178-B4 F8 
  1. Sample NA07503 added to the section on positive control DNA samples
  2. Ligation sites of the probes targeting the F8 gene updated according to new version of the NM_ reference sequence
P207
SALSA MLPA Probemix P207-D1 F9
As compared to version C4, new target probes have been added and several target probes have been replaced. Six reference probes have been replaced and three removed. In addition, multiple lengths have been adjusted
P050
 SALSA MLPA Probemix P050-D1CAH I173N WT sequence probe detects the same sequence but now on the reverse strand
Five CYP21A2/CYP21A1P probes changed in length not in sequence detected + Two TNXB probes have been replaced
One reference probe has been replaced and three have been added
P366
 SALSA MLPA Probemix P366-B1 CHM-RP2-RPGRProbemix almost completely redesigned
P355
 SALSA MLPA Probemix P355-B1 MicrocephalyOne probe targeting the MCPH1 gene has been removed from the probemix
P128
 SALSA MLPA Probemix P128 CYP450One probe is adjusted in length, not in the sequence detected
P438
SALSA MLPA Probemix P438-D3 Celiac Disease

Three reference probes have been replaced.

 Two probe lengths have been adjusted. The name of the probemix has been changed to SALSA MLPA Probemix P438 Celiac DiseaseSALSA Binning DNA SD089-S01, which is also CE-marked for in vitro diagnostic (IVD) use in Europe*, is included with every P438-D3 order

ME012
 SALSA MS-MLPA Probemix ME012 MGMT-IDH-TERT Two new MGMT MS- and TERT mutation-specific probes have been added, several reference probes and a depurination-control probe replaced, and one new digestion control probe added. Several probes have a change in length but not in the targeted sequence. A a new SALSA Binning DNA is supplied with ME012-B1, SALSA Binning DNA SD094 replaces SALSA Binning DNA SD054
P369
SALSA MLPA Probemix P369 Smith-Magenis (new B1 version)One target probe has been replaced, ten target probes have been added, five reference probes have been replaced, two reference probes have been added and one reference and three target probes have been changed in length, not in sequence detected
D001
SALSA digitalMLPA Probemix Hereditary Cancer Panel 1Two probes were added, targeting a intragenic MSH2 exon 2-6 inversion. In addition, other modifications were done to increase the probemix performance: one PMS2 probe was replaced, four other probes were removed, reference probe selection was adjusted and a modified set of control probes was included.
ME034
SALSA MLPA Probemix ME034 Multi-locus Imprinting
Two probes for 16p13 added, one SNRPN probe replaced, three reference probes replaced, two probes changed in length but not in the sequence detected
ME033SALSA MLPA Probemix ME033-B1 TNDM
All ten reference probes have been replaced, seven target probes have been replaced, and five new target probes have been added. Three probes have been changed in length, not in sequence detected.
P051SALSA MLPA Probemix P051-D2 Parkinson mix 1
CNVs for PARK7, ATP13A2, PINK genes and the SNCA A30P mutation removed.
P052SALSA MLPA Probemix P052-D2 Parkinson mix 2
CNVs for UCHL1, LRRK2, GCH1, ATP13A2, CAV1/2 genes removed.
P405
SALSA MLPA Probemix P405-B1 CMT1
Intended purpose has been updated, COX10, TEKT3, MPZ genes removed
P033SALSA MLPA Probemix P033-D1 CMT1
COX10, TEKT3, KIF1B genes removed.
P077SALSA MLPA Probemix P033-B1 BRCA2 Confirmation
The probes targeting BRCA2 will no longer be intended for diagnostic use related to Fanconi Anemia type D1
P045SALSA MLPA Probemix P045-D1 BRCA2/CHEK2

The target testing population for predisposition to breast cancer and other CHEK2-related cancer types will be limited to individuals originally suspected of hereditary breast and ovarian cancer (HBOC) syndrome for the probes targeting CHEK2. The probes targeting BRCA2 will no longer be intended for diagnostic use related to Fanconi Anemia type D1.

P060SALSA MLPA Probemix P060-B2 SMA Carrier
The probes targeting SMN2 will no longer be intended for diagnostic use.
P021SALSA MLPA Probemix P021-B1 SMA
The probe targeting NAIP will no longer be intended for diagnostic use. The use of genomic DNA isolated from prenatal samples will no longer be intended for diagnostic use. SMN2 copy number determination on dried blood spot (DBS) derived crude extracts will no longer be included for diagnostic purposes.
P090 SALSA MLPA Probemix P090-C1 BRCA2

The probes targeting BRCA2 will no longer be intended for diagnostic use related to Fanconi Anemia type D1

MC002SALSA ME002 SMA Newborn ScreenThe use of genomic DNA isolated from human peripheral whole blood will no longer be intended for diagnostic use
P055SALSA MLPA Probemix P090-D1 PAH
Description of probe targets at the edge of or slightly outside the coding region has been adjusted. No change in actual target sites
P062SALSA MLPA Probemix P062-E1 LDLR
Description of probe targets at the edge of or slightly outside the coding region has been adjusted. No change in actual target sites (affects probe: 10781-L11396)
P213SALSA® MLPA® Probemix P213-B3 HSP mix-2
The probes targeting REEP1 and SPG7 will be limited to the detection of deletions
P165SALSA® MLPA® Probemix P165-C3 HSP mix-1
The probes targeting ATL1 will no longer be intended for diagnostic use
P065SALSA® MLPA® Probemix P065-C1 Marfan Syndrome-1
The probes in P065 Marfan Syndrome-1 targeting TGFBR2 will no longer be intended for diagnostic use. P065 Marfan Syndrome-1 is no longer intended to confirm a potential cause for and clinical diagnosis of TGFBR2-related disorders.
P158SALSA® MLPA® Probemix P158-D1 JPS
The probes targeting BMPR1A and SMAD4 will be limited to the detection of deletions. This product will only be intended for confirmation of clinical diagnosis of Juvenile Polyposis Syndrome (JPS) in case of inconclusive clinical features.
P189SALSA® MLPA® Probemix P189-C2 CDKL5/ARX/FOXG1
The probes targeting NTNG1 and ARX will no longer be intended for diagnostic use. The probes targeting CDKL5 will be limited to the detection of deletions. This product will no longer be intended to confirm a potential cause for or clinical diagnosis of early infantile epileptic encephalopathy 1 (EIEE1) or atypical Rett syndrome. This product will no longer be intended for genetic testing of at-risk family members.
P015SALSA® MLPA® Probemix P015-F2 MECP2
The probes targeting NTNG1 and ARX will no longer be intended for diagnostic use. The probes targeting CDKL5 will be limited to the detection of deletions. This product will no longer be intended to confirm a potential cause for or clinical diagnosis of early infantile epileptic encephalopathy 1 (EIEE1). Genetic testing of at-risk family members will be confined to MECP2 duplication syndrome.
ME028SALSA® MLPA® Probemix ME028-D1 Prader-Willi/Angelman
Prenatal samples are no longer intended to be used for diagnostic purposes.
P065
P066
SALSA® MLPA® Probemix P065-C1 and SALSA® MLPA® Probemix P066-C1
(Marfan Syndrome 1 and Marfan Syndrome 2)

Intended purpose modified by removal of the TGFBR2 gene and TGFBR2-related disorders. Specification regarding the use of TGFBR2 probes added to section Limitations.   Exon numbering updated for seven out of nine TGFBR2 probes. Warning for a ligation site >20nt away from the nearest exon added to probes 17174-L20399 and 17186-L20411. Warning for target outside the transcript region added for probes 17196-L20421 and 21282-L29868. SNVs  rs138010137,  rs184395862, and  rs201273354 can affect the probe signal.




Zoznam SALSA MLPA kitov, ktoré už nie sú v ponuke: 

P224 PPARG (Obesity, severe; Diabetes mellitus type 2; Partial lipodystrophy type 3, familial; Colon cancer) 
P277 Human Telomere-10 (Subtelomeric testing)
P394 MYO5B (Microvillus inclusion disease (MVID))
P416 KRT14-LAMA3-LAMB3-LAMC2 (Epidermolysis bullosa simplex; Junctional epidermolysis bullosa)
P430 PLCG2 (Atypical cold urticaria, familial)
P434 Heterotaxy (Heterotaxy syndrome)
P014 Chromosome 8
P249 Human Telomere-8
P304 IRF6-GRHL3
P416 KRT14-LAMA3-LAMB3-LAMC2
P435 FLNB
P344 SULT1A1
P371 Microdeletion syndromes 5
P415 COL7A1-KRT5
P264 Human Telomere-9
P372 Microdeletion-6
P373 Microdeletion-7
P231 FGF10-FGFR2
P247 Chemokine-2 
P274 SLC6A5/GLRA1/GLRB
P447 HPRT1
SD065 Binning DNA
P458 Gastric cancer 
P267 Dandy-Walker
P408 ADLTE-LGI1
P354 KIT SNAI2
P396 SHANK2
P398 CASK
ME002 Tummour Suppressor Mix 2
P314 ABCA3 SFTPC