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SALSA MLPA Reagent Kits for Metabolic & Mitochondrial

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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 NAME APPLICATION REGION
P010-POLG Mitochondrial maintenance POLG, POLG2, TWNK (C10orf2; PEO1), SLC25A4 (ANT1)
P049-SLC6A8 - ABCD1 Creatine transporter, x-linked SLC6A8, Xq28
P055-PAHCE Phenylketonuria PAH 12q23.2
P062-LDLRCE Hypercholesterolemia, familial LDLR 19p13.2
P076-ACADVL-SLC22A5 VLCAD/Primary Carnitine ACADVL, SLC22A5
P079-OTC Ornithine transcarbamylase (OTC) OTC Xp11.4
P089-TK2 mtDNA depletion syndrome TK2, MPV17, DGUOK, RRM2B, SUCLA2, SUCLG1
P098-Wilson Wilson disease ATP7B 13q14.3
P103-DPYD Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22
P104-Menkes ATP7Aimproved Menkes disease ATP7A Xq13.3
P107-Neurometabolic Neurometabolic disorders ASPA, MLC1, MLYCD, D2HGDH, L2HGDH
P120-PANK2/PLA2G6 Neurodegeneration with brain iron accumulation (NBIA) PANK2 20q13, PLA2G6 22q13
P125-Mitochondria Mitochondrial DNA (mtDNA) Mitochondria
P128-CYP450basic research Cytochrome P-450 CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1
P138-SLC2A1-STXBP1 Glut1 deficiency syndrome SLC2A1, STXBP1
P156-GALT Classic galactosemia GALT 9p13
P159-GLA Fabry Disease GLA Xq22
P160-STS Steroid Sulfatase gene (STS) STS Xp22
P164-IDS Mucopolysaccharidosis type II, or Hunter syndrome IDS Xq28
P177-CASR Hypocalciuric Hypercalcemia, familial CASR 3q13
P193-NPC1-NPC2-SMPD1 Niemann-Pick type C disease (NPC) NPC1, NPC2
P198-FH Fumarase deficiency (FH) FH
P199-HEXA Tay-Sachs Disease HEXA 15q23
P203-PKLR Haemolytic Anaemia, hereditary non-spherocytic PKLR 1q22
P209-Glycine Encephalopathy Glycine encephalopathy GLDC 9p22
P218-LPL LPL deficiency LPL 8p21.3
P223-PHEX Hypophosphatemia, x-linked PHEX Xp22.2, FGF23 12p13
P255-ALDOB-FBP1 Fructose intolerance ALDOB FBP1 9q21
P278-PCCA Propionic acidemia PCCA 13q32
P283-TPMT Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase) TPMT 6p22
P305-AGXT Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2) AGXT, GRHPR
P338-GBAbasic research Gaucher disease GBA 1q22
P344-SULT1A1 SULT1A1 copy number 16p11.2
P347-Hemochromatosis Hereditary hemochromatosis (HH) HFE, SLC40A1, TFR2, HFE2, HAMP
P411-Porphyria mix 1 Porphyrias ALAD, HMBS, PPOX
P412-Porphyria mix 2 Porphyrias FECH, UROS, UROD, CPOX
P427-PDHA1 Leigh Syndrome X-chromosome
P446-GALC Krabbe Disease 14q31.3
P447-HPRT1 Lesch-Nyhan syndrome Xq26.1
P453-GAA Pompe Disease 17q25.3
P457-DHCR7 Smith–Lemli–Opitz syndrome 11q13
P465-ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency 01p31.1
P473-CTNSnew (Nephropathic) Cystinosis 17p13.2
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