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SALSA MLPA Reagent Kits for Multiple Congenital Anomalies

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SALSA MLPA Reagent Kits for Multiple Congenital Anomalies
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

  • Multiple Congenital Anomalies 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 Multiple Congenital Anomalies:





























































































































































































































































































































































































































































PRODUCT NAME APPLICATION REGION
ME028-PWS/ASimproved Prader Willi syndrome (PWS), Angelman syndrome (AS) PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
ME030-BWS/RSS Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS) 11p15 region, H19, IGF2, CDKN1C, KCNQ1
ME032-UPD7-UPD14 Uniparental disomy 6q24, 7p12, 7q32 and 14q32
P013-ATRX Alpha-Thalassemia/Mental Retardation ATRX ; Xq13
P026-Sotos Sotos syndrome NSD1, 5q35
P029-WBS Williams-Beuren syndrome WBS criticial region 7q11.23
P031-FANCA mix 1 Fanconi Anemia (FA) FANCA 16q24.3
P032-FANCA mix 2 Fanconi Anemia (FA) FANCA 16q24.3
P036-Subtelomeres Mix 1CE Subtelomeric testing All subtelomeres
P046-TSC2 Tuberous Sclerosis TSC2 16p13.3
P057-FANCD2-PALB2 Fanconi anemia (FA) FANCD2. 3p25.3, PALB2 16p12
P061-Lissencephalyimproved Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P064-MR-1 Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos Various
P067-PTCH Gorlin syndrome PTCH 9q22.3
P069-Subtelomeres Mix 2ACE Subtelomeric testing All subtelomeres
P070-Subtelomeres Mix 2BCE Subtelomeric testing All subtelomeres
P073-IKBKG Incontinentia Pigmenti Xq28; IKBKG, NEMO, IKBKGP
P075-TCF4-FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome TCF4, FOXG1
P080-Craniofacial Craniofacial disorders FGFRs, TWIST, MSX2, ALX4, RUNX2
P091-CFTRCE Cystic Fibrosis CFTR 7q31.2
P095-AneuploidyCE Down syndrome, Edwards syndrome, Patau syndrome Chr. 13, 18, 21, X, Y
P096-MR-2 Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki Various
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1 Tuberous Sclerosis TSC1 9q34
P141-NIPBL-1 Cornelia de Lange syndrome (CDLS) NIPBL 5p13.2
P142-NIPBL-2 Cornelia de Lange syndrome (CDLS) NIPBL 5q13.1
P147-1p36 1p36 deletion syndrome 1p36
P153-EYA1 Branchio-oto-renal dysplasia syndrome (BOR) EYA1 8q13.3.
P154-GPC3-GPC4 Simpson-Golabi-Behmel syndrome (SGBS) GPC3, GPC4, Xq26
P179-Limb-1 Limb malformations GLI3 7p14.1, HOXD13 2q31.1, ROR2 9q22.31
P180-Limb-2 Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24
P183-EDA Ectodermal dysplasia, x-linked (XLHED) EDA Xq12-q13.1
P187-HPE Holoprosencephaly (HPE) PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11
P188-22q13 Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 22q13.3, SHANK3, ACR, RABL2B
P201-CHARGE CHARGE syndrome CHD7 8q12.2
P208-Human Telomere-6 Subtelomeric testing 2p, 3p, 6p, 8p
P212-DBA Diamond-Blackfan anemia (DBA) RPL11, RPL5, RPL35A, RPS26, RPS17 and RPS19
P228-TRPS1-EXT1 Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS) TRPS1, EXT1, 8q24
P230-Human Telomere-7 Subtelomeric testing 9p, 10p, 11p, 12p
P231-FGF10-FGFR2 Autosomal dominant lacrimoauriculodentodigital (LADD) FGF10 5p13, FGFR2 10q26
P232-FGD1 Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome FGD1 Xp11.21
P233-MID1 OPITZ syndrome MID1 Xp22
P237-DNAI1 Primary ciliary dyskinesia (PCD) DNAI1 9p21
P238-DNAH5 Primary ciliary dyskinesia (PCD) DNAH5 5p15
P245-Microdeletion-1 Microdeletion syndromes Various
P249-Human Telomere-8 Subtelomeric testing 17p, 18p, 19p, 20p
P250-DiGeorgeCE DiGeorge syndrome 22q11
P257-TERT-DKC1 Dyskeratosis congenita (DC) DKC1 Xq28
P259-RPS6KA3 Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1.
P260-PALB2-RAD50-RAD51C-RAD51D Fanconi Anemia 5q31, 16p12, 17q12, 17q22
P275-MAPT-GRN Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy MAPT 17q21
P277-Human Telomere-10 Subtelomeric testing 5q, 6q, 7q, 8q
P286-Human Telomere-11 Subtelomeric testing 9q, 10q, 11q, 12q
P289-LMX1B Nail patella syndrome (NPS) LMX1B 9q33
P290-Prenatal Prenatal microdeletion testing Various
P291-Human Telomere-12 Subtelomeric testing 13q, 14q, 15q, 16q
P297-Microdeletion-2 Microdeletion syndromes Various
P304-IRF6-GRHL3 Van der Woude syndrome (VWS) IRF6, 1q32.2; GRHL3 1p36.11
P310-TCOF1 Treacher Collins-Franceschetti 1 TCOF1
P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3
P320-Human Telomere-13 Subtelomeric testing 17q, 18q, 19q, 20q.
P321-VPS13B mix 1 Cohen syndrome VPS13B 8q22
P322-VPS13B mix 2 Cohen syndrome VPS13B 8q22
P325-OCA2 oculocutaneous albinism OCA2 15q12; TYR 11q14.3
P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300; 22q13.2
P337-TSC2 Tuberous sclerosis TSC2 gene, 16p13.3
P339-SHANK3 Autism Spectrum Disorder SHANK3 22q13.33
P343-Autism-1 Autism 15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13
P350-CLCN1-KCNJ2 Myotonia congenita, Thomsen’s disease, Becker’s disease, Andersen-Tawil syndrome CLCN1, KCNJ2
P356-Chromosome 22q Subtelomeric testing 22q11, 22q13
P358-Human Telomere-15 Subtelomeric testing 4p, 5p telomeres and 13q,14q centromere regions
P365-Human Telomere-14 Subtelomeric testing 7p, 15q-cen, 16p, 21q-cen, 21q
P369-Smith-Magenis Smith-Magenis syndrome 17p11.2
P371-Microdeletion-5 Microdeletion follow-up 2p16, Langer Giedion, 9q22, WAGR, 15q24, 17q21
P372-Microdeletion-6 Microdeletion follow-up Sotos, DiGeorge, Rubinstein-Taybi, NF1
P373-Microdeletion-7 Microdeletion follow-up 1p36, 3q29, Wolf-Hirschhorn, Cri du Chat, Phelan-McDermid
P374-Microdeletion-8 Microdeletion follow-up: 7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT 7q11, PWS/AS, Miller-Dieker, Smith-Magenis, RETT
P379-NRXN1 Pitt-Hopkins-like syndrome 2 NRXN1
P388-AGS Aicardi-Goutieres Syndrome RNASEH2A, B & C genes, TREX1, SAMHD1
P389-MLL2 Kabuki syndrome MLL2 gene
P426-Cystinuria Cystinuria SLC3A1, 2p12 and SLC7A9
P431-FOXF1 Alveolar capillary dysplasia 2p24.3 (MYCN) and 16q24.1 (FOXF1; FOXC2; FOXL1)
P433-ARID1A-ARID1B Neuroblastoma, ovarian cancer + various other tumour types + mental retardation ARID1A, ARID1B
P434-Heterotaxy Heterotaxy syndrome ZIC3 Xq26.3, CFC1 2q21.1, ACVR2B 3p22.2, NODAL 10q22.1
P443-KANSL1 KANSL1 copy number 17q21.31
P445-KDM6A Kabuki Syndrome Type 2 (KS2) Xp11.3
P457-DHCR7 Smith–Lemli–Opitz syndrome 11q13
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