The present invention concerns the amplification of at least a first and a second target nucleic acid that may be present in at least one fluid sample using RNase H and a polymerase with reverse transcriptase activity.

Methods are provided for determining the methylation status of GC-rich templates. The methods include use of GC reference standards that allow simultaneous characterization of methylation status and CGG repeat length. The methods are useful for detecting genotypes associated with GC-rich repeats, including Fragile X Syndrome.

Methods that rapidly, sensitively, and specifically detect mutations in IDH1/2 and the TERT promoter employ amplification of particular portions of the genes that experience frequent and exquisitely localized mutations. The ability to distinguish between sequences that differ only by one nucleotide and which may be present in very low ratios is essential for such an assay.

Disclosed are controls for use in identifying any of a number of genotypes and/or for use in identifying or characterizing a disease or condition. The controls may be particularly useful for diagnostic tests that utilize circulating cell-free DNA or microRNA. A control may comprise a mixture of nucleic acids. In some embodiments, a control comprises liposomes, e.g., wherein nucleic acids of the control are associated with the liposomes. For example, the controls are useful for determining whether a fetus comprises an aneuploidy. Also disclosed are methods of using the controls.

Oligonucleotides may be universal primers and probes. Method may use these oligonucleotides for detecting or detecting and quantifying a nucleic acid acting as a universal internal control. A primer pair includes a first primer having SEQ ID NO: 1 or a complement thereof and a second primer having SEQ ID NO: 2 or a complement thereof. A probe includes SEQ ID NO: 3 or a complement thereof, preferably wherein each of the nucleotides in position 4, 5, 6, 8, 9, 10, 11 and 12 of SEQ ID NO: 3 is replaced with a corresponding locked nucleic acid (LNA) unit (SEQ ID NO: 4).

The present disclosure relates to methods for diagnosing a skin lesion as malignant or benign.

Provided herein is technology relating to the amplification-based detection of bisulfite-treated DNAs and particularly, but not exclusively, to methods and compositions for multiplex amplification of low-level sample DNA prior to further characterization of the sample DNA. The technology further provides methods for isolating DNA from blood or blood product samples, e.g., plasma samples.

The present invention belongs to the field of nucleic acid detection, particularly in-vitro diagnostics. The invention concerns amongst others the amplification of at least one or more target nucleic acid that may be present in at least one sample using an inventive control, which comprises a particle comprising a polycationic compound and a nucleic acid. The present invention relates also to uses of the inventive controls, methods for the preparation, diagnostic tools and kits.

Methods for assessing the quality of a tissue sample. In some aspects, methods are provided for determine the time that a biological sample has been exposed to cold ischemia condition by measuring the expression level of an mRNA and/or a phosphoprotein.

The present invention relates to a method for determining size of biomolecules separated in a medium by an electric field using marker molecules of known size, comprising —(101) detecting a plurality of bands and forming a detected marker sequence and a detected unknown sequence based on a separation criterion, —(102) determining band properties for each detected band, —(103) comparing the band properties of the detected bands of the detected marker sequence with known band properties for a plurality of marker molecules forming a known marker sequence and assigning a score to each comparison, said score being based on at least one of relative distance, relative intensity, expected distance and expected intensity between bands, —(104) selecting the comparison with the highest score and associating all or a subset of the detected bands of the detected marker sequence with said plurality of marker molecules of the known marker sequence in accordance with said comparison to determine size of the all or a subset of the detected marker sequence, and —(105) comparing the bands of the detected marker sequence with the bands of the detected unknown sequence to determine a size of biomolecules for each identified band of the detected unknown sequence based on the known sizes of the marker molecules. The invention also relates to software configured to perform the method and to a computer readable medium for storing said software.