(TFTs = thyroid function tests; CMA = chromosomal microarray; MLPA
= multiplex ligation-dependent probe amplification; pos = positive; neg = negative; MRI = magnetic resonance imaging; CT = computed tomography; FX = fragile X; CK = creatine kinase.)
Sixty-six DNA samples from fetuses with pathological USG findings and normal karyotype and subtelomeric FISH results were tested using MLPA
probe sets SALSA P070 and P245 to identify the efficacy and the impact of MLPA
testing at prenatal setting.
"Each year the MLPA
recognizes Missouri mines for their accomplishments in safety and ensuring worker safety and health through the Safety Awards Program," said MLPA
Executive Manager Morgan Mundell.
(18) performed a mutation analysis of the MLH1, MSH2, and MSH6 genes using Sanger sequencing and MLPA
techniques in 57 patients with endometrial cancer, who were younger than 50 years of age.
Moreover, this study compared the performance of two SMA diagnostic strategies, multiplexed ligation-dependent probe amplification (MLPA
) combined with TA cloning and this new method.
Confirmation analysis of rearrangement results from NGS data was replicated by using MLPA
analysis with two probe sets for each gene.
However, rapid aneuploidy testing methods such as fluorescent in situ hybridization (FISH), quantitative fluorescence-polymerase chain reaction (QF-PCR), and multiplex probe ligation assay (MLPA
) are also routinely used for prenatal diagnosis in the laboratory (4).
The project is registered under RERA and approved by DTCP and MLPA
Although mutation detection may be difficult due to the large size of the gene, multiplex ligation-dependent probe amplification (MLPA
) technology has eased the diagnosis [3, 5, 6].
Chamoles/FESEN Laboratory (Buenos Aires, Argentina)  and the mutational study by MLPA
(multiplex ligation-dependent probe amplification) and sequencing in Medical Genetics Laboratories-Baylor College of Medicine (Houston, TX, USA) [18, 19].
A possible loss of heterozygosity (LOH) was excluded using the SALSA MLPA
probemix P334-A3 Gonadal Development Disorder (MRC Holland) in a MLPA
(Multiplex Ligation-dependent Probe Amplification) assay.
The INI1/SMARCB1 analysis conducted by Sanger sequencing of all exons and exon/intron boundaries and a Multiplex Ligation-dependent Probe Amplification (MLPA
) to detect copy number alterations revealed a homozygous deletion of the 9 exons in tumor DNA.