SALSA MLPA Reagent Kits for Metabolic & Mitochondrial

MRC HOLLAND SALSA MLPA Reagent Kits for Metabolic & Mitochondrial in India

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SALSA MLPA Reagent Kits for Metabolic & Mitochondrial
MLPA (Multiplex Ligation-dependant Probe Amplification (MLPA) is a multiplex PCR method that enables the copy number variation (CV) detection of up to 60 DNA sequences in a single reaction. 96 DNA samples can be handled simultaneously with results being available within 24 hours.
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Features & Benefits

  • Metabolic & Mitochondrial Disorder Detection
  • Simultaneous Detection of copy number, methylation and known point mutation
  • Low Input - Requires only 50 ng of DNA
  • Reproducible - High concordance with other techniques
  • Time Efficient - Results available within 24 hrs.
  • High Throughput - Can detect up to 60 sequences in 96  DNA samples, in one reactions
  • Cost Effective

Product Details

MLPA® is the gold standard for DNA copy number quantification and is used to study both hereditary disorders and tumours. MLPA can also be applied to investigate the methylation status of DNA sequences. MRC-Holland, the inventor and manufacturer of MLPA, offers 400 different MLPA panels. MLPA (Multiplex Ligation-dependant Probe Amplification (MLPA) is a multiplex PCR method that enables the copy number variation (CV) detection of up to 60 DNA sequences in a single reaction. 96 DNA samples can be handled simultaneously with results being available within 24 hours.


Components provided per SALSA MLPA Reagent Kit  



  • SALSA MLPA Buffer (yellow cap)

  • SALSA Ligase-65 (green cap)

  • Ligase Buffer A (transparent cap)

  • Ligase Buffer B (white cap)

  • SALSA PCR Primer Mix (brown cap)

  • SALSA Polymerase (orange cap) 


MLPA has the following solutions for Metabolic & Mitochondrial:

































































































































































































































PRODUCT NAMEAPPLICATIONREGION
P010-POLGMitochondrial maintenancePOLG, POLG2, TWNK (C10orf2; PEO1), SLC25A4 (ANT1)
P049-SLC6A8 - ABCD1Creatine transporter, x-linkedSLC6A8, Xq28
P055-PAHCEPhenylketonuriaPAH 12q23.2
P062-LDLRCEHypercholesterolemia, familialLDLR 19p13.2
P076-ACADVL-SLC22A5VLCAD/Primary CarnitineACADVL, SLC22A5
P079-OTCOrnithine transcarbamylase (OTC)OTC Xp11.4
P089-TK2mtDNA depletion syndromeTK2, MPV17, DGUOK, RRM2B, SUCLA2, SUCLG1
P098-WilsonWilson diseaseATP7B 13q14.3
P103-DPYDDihydropyrimidine dehydrogenase (DPYD) deficiencyDPYD 1p22
P104-Menkes ATP7AimprovedMenkes diseaseATP7A Xq13.3
P107-NeurometabolicNeurometabolic disordersASPA, MLC1, MLYCD, D2HGDH, L2HGDH
P120-PANK2/PLA2G6Neurodegeneration with brain iron accumulation (NBIA)PANK2 20q13, PLA2G6 22q13
P125-MitochondriaMitochondrial DNA (mtDNA)Mitochondria
P128-CYP450basic researchCytochrome P-450CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1
P138-SLC2A1-STXBP1Glut1 deficiency syndromeSLC2A1, STXBP1
P156-GALTClassic galactosemiaGALT 9p13
P159-GLAFabry DiseaseGLA Xq22
P160-STSSteroid Sulfatase gene (STS)STS Xp22
P164-IDSMucopolysaccharidosis type II, or Hunter syndromeIDS Xq28
P177-CASRHypocalciuric Hypercalcemia, familialCASR 3q13
P193-NPC1-NPC2-SMPD1Niemann-Pick type C disease (NPC)NPC1, NPC2
P198-FHFumarase deficiency (FH)FH
P199-HEXATay-Sachs DiseaseHEXA 15q23
P203-PKLRHaemolytic Anaemia, hereditary non-spherocyticPKLR 1q22
P209-Glycine EncephalopathyGlycine encephalopathyGLDC 9p22
P218-LPLLPL deficiencyLPL 8p21.3
P223-PHEXHypophosphatemia, x-linkedPHEX Xp22.2, FGF23 12p13
P255-ALDOB-FBP1Fructose intoleranceALDOB FBP1 9q21
P278-PCCAPropionic acidemiaPCCA 13q32
P283-TPMTThiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase)TPMT 6p22
P305-AGXTPrimary hyperoxaluria, type 1 (PH1) & type 2 (PH2)AGXT, GRHPR
P338-GBAbasic researchGaucher diseaseGBA 1q22
P344-SULT1A1SULT1A1 copy number16p11.2
P347-HemochromatosisHereditary hemochromatosis (HH)HFE, SLC40A1, TFR2, HFE2, HAMP
P411-Porphyria mix 1PorphyriasALAD, HMBS, PPOX
P412-Porphyria mix 2PorphyriasFECH, UROS, UROD, CPOX
P427-PDHA1Leigh SyndromeX-chromosome
P446-GALCKrabbe Disease14q31.3
P447-HPRT1Lesch-Nyhan syndromeXq26.1
P453-GAAPompe Disease17q25.3
P457-DHCR7Smith–Lemli–Opitz syndrome11q13
P465-ACADMMedium-chain acyl-CoA dehydrogenase (MCAD) deficiency01p31.1
P473-CTNSnew(Nephropathic) Cystinosis17p13.2
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