Tandem Mass Spectrometry – Detecting Metabolic Disorders

Tandem Mass Spectrometry (TMS) is a powerful and highly sensitive analytical technique used to detect and quantify small amounts of metabolites in the body. It is primarily used for screening inborn errors of metabolism and identifying rare metabolic disorders.

Indications for Tandem Mass Spectrometry:

● Newborn screening: For detecting metabolic disorders in newborns like phenylketonuria (PKU), maple syrup urine disease, and galactosemia.

● Inherited metabolic diseases: To diagnose conditions where the body cannot properly process certain amino acids or fats.

● Monitoring metabolic conditions: To assess individuals with diagnosed metabolic disorders and monitor their treatment progress.

How Tandem Mass Spectrometry Works:

● A blood or urine sample is analyzed using mass spectrometry. The sample is ionized, and the resulting ions are analyzed based on their mass-to-charge ratio. This method allows for the detection of specific metabolites and amino acids involved in metabolic processes.

Normal Range:

● Normal metabolite levels depend on the specific test being performed. Each metabolic disorder has a unique profile, and normal ranges are established for each condition.

Abnormal Test Significance:

● Elevated levels of metabolites: May indicate a genetic metabolic disorder such as phenylketonuria (PKU), maple syrup urine disease, or propionic acidemia.

● Low or absent metabolites: Can point to conditions like biotinidase deficiency or inborn errors of metabolism.

Management Based on Results:

● For abnormal results: Treatment typically involves dietary modifications, enzyme replacement therapy, or liver transplantation, depending on the disorder diagnosed.

Price in India:

Approx. ₹10,000 – ₹30,000 for tandem mass spectrometry, depending on the number of tests performed.