Tandem mass spectrometry breaks down molecules in a sample and measures their mass, allowing for the identification of certain medical conditions. The technique involves two or more mass spectrometers, with the first separating the sample components and the second analyzing the mass of the broken-down pieces. This method can identify multiple conditions at once and is commonly used for diagnosing congenital conditions in children.
Tandem mass spectrometry is a chemical technique that uses a machine to evaluate the levels of different substances in a sample. It achieves this by breaking down the molecular components of the sample into small pieces and measuring the mass of these pieces. Tandem mass spectrometry is a useful method of medical diagnosis because many conditions produce a distinctive profile of biological molecules. While the technique has other applications, its most widely recognized use is the diagnosis of congenital conditions in children.
A mass spectrometer is sensitive enough to accurately assess the mass of a molecule, down to the atomic level. Molecules are tiny structures made up of atoms attached to each other. It is the type and quantity of atoms, and how they are arranged in the molecule, that determines what the molecule is. A protein, for example, is made up of many smaller sections called amino acids, which in turn break down into atoms. A fat molecule is made up of smaller sections called fatty acids, which also break down into atoms.
Each atom has a specific mass, meaning that the small molecules like the amino acids and proteins they make up have their own distinctive mass. The mass spectrometer can measure the mass of molecules at a very sensitive level by assessing how it responds to electric charge, which refers to mass. He then translates these masses into substances, using a computer. An analyst can then feed a sample into the machine and wait for the tandem mass spectrometry technique to give him a result.
While this is the general idea of a mass spectrometer, more complex processes are going on inside the tandem mass spectrometry unit. The machine is actually made up of two or more mass spectrometers, hence the tandem description. The first spectrometer separates the sample components and evaluates their masses, but then sends these separated molecules into a segment of the tandem mass spectrometer called a collision cell. In the collision cell section, which is located between the first and second mass spectrometers in the unit, the molecules are smashed into pieces. These pieces then move into the second spectrometer, which analyzes the mass.
The information gathered by the machine from the tandem mass spectrometry technique is translated into molecule names for the analyst. Medical scientists know that certain conditions show a characteristic profile of biological molecules in a sample such as blood. A comparison of a sample with a known profile can help a doctor diagnose certain conditions, such as newborns with metabolic problems.
More than one condition may be recognizable from a single run of tandem mass spectrometry, which is a time- and cost-saving advantage to the technique over tests that only identify one condition at a time. Examples of medical problems identifiable through this form of mass spectrometry include phenylketonuria, a condition that can lead to intellectual disability if left untreated, and galactosemia, which can be fatal to children.
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