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MLPASure Testing

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Multiplex Ligation-dependent Probe Amplification (MLPA)

Majority of the genetic disease have been associated with abnormality in genomic DNA (gDNA) not restricted to mutations. In some cases, diseases have been associated with deletion or duplication of genes such as in case of Duchenne Muscular Dystrophy (DMD). To properly characterize the disease phenotype genotype correlation ones need not only to detect the associated mutation but also the deletion and duplication with the gene of interest.  Among many available techniques for detecting the deletion and duplication within a gene, MLPA is one the most cost-effective, robust test method with shortest test reporting time. In addition it has the ability to detect small rearrangements and copy number variations (CNV). The input DNA amount can as low as 50 ng per reaction.

MLPA is basically an advance version of multiplex polymerase chain reaction having the ability to amplify and quantify multiple targets (upto 60 specific nuclei acid sequence) in single tube. Fragment analysis of the amplified product is carried by capillary electrophoresis (Gold Standard in Sequencing) and compared to the reference.

Test Code

Test Disease

Region/Genes

MLP-DMD-ECGI Duchenne Muscular Dystrophy (DMD) DMD, Xp21.2
MLP-CMD-ECGI CMD, Merosin-deficient 6q22.33
MLP-LGMD2A-ECGI Limb Girdle Muscular Dystrophy 2A (LGMD 2A) CAPN3 15q15.1
MLP-LGMD2B-ECGI Limb Girdle Muscular Dystrophies 2B (LGMD 2B) DYSF 2p13
MLP-LGMD2CF-ECGI Limb-Girdle Muscular Dystrophy 2C-F, I (LGMD 2C-F) SGCA, SGCB, SGCD, SGCG, FKRP
MLP-LGMD2L-ECGI Limb-Girdle Muscular Dystrophy-2L ANO5 gene
MLP-LMNA-ECGI Laminopathies, Limb-Girdle Muscular Dystrophy,  Myofibrillar Myopathies LMNA 1q22; ZMPSTE24 1p34;
MYOT 5q31; CAV3 3p25
MLP-mtDNA-ECGI Mitochondrial DNA (mtDNA) Mitochondria
MLP-CFTR-ECGI Cystic Fibrosis CFTR 7q31.2
MLP-MGMT-ECGI Gliomas MGMT, IDH1, IDH2,
MLP-PARK1P-ECGI Parkinson Disease, Familial PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36
MLP-PARK-12q-ECGI Parkinson Disease, Familial PARK2 6q25, UCHL1 4p14, GCH1 14q22.1 LRRK2 12q12
MLP-HBB-ECGI Thalassemia, Beta-zero HBB 11p15.5