Phenotypic screening for metabolic disorders using mass spectrometry (e.g., tandem mass spectrometry)
This test helps identify certain inherited conditions that affect how your body processes nutrients, hormones, or other substances. It uses a small sample of your blood to check for unusual chemical patterns that may indicate a metabolic disorder.
["Early detection of rare genetic conditions that can impact energy, growth, or organ function."]
Key facts at a glance
- LOINC
- 67293-1
- Short code
- Other MRI scan PhenX
- Synonyms
- Other MRI scan PhenX
- Category
- chemistry
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- phenx
- Specimen volume
- 5 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 4–24 hours
- Order
- routine
What This Test Measures
The test analyzes your blood sample for a wide range of substances, including amino acids, fatty acids, organic acids, and other metabolites. It detects any unexpected levels that might suggest a metabolic disorder, such as those related to disorders of amino acid metabolism, fatty acid oxidation, or organic aciduria.
How the Test Works
This test uses advanced mass spectrometry, a highly sensitive method that breaks down molecules into fragments to identify and measure specific chemicals in your blood. It’s often used as part of newborn screening or for diagnosing suspected metabolic conditions in adults and children.
When You Might Need This Test
Your healthcare provider may recommend this test if you have symptoms like unexplained fatigue, developmental delays, recurrent vomiting, or other signs of metabolic issues. It may also be used in newborn screening programs or if you have a family history of metabolic disorders.
Preparation for the Test
No special preparation is usually needed. You’ll have a small blood sample drawn from your arm, similar to a regular blood test. If you’re a newborn, the sample may be collected from a heel prick.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
This test plays a critical role in diagnosing metabolic disorders early, which can allow for timely treatment and management. Detecting these conditions promptly can prevent complications like brain damage, developmental delays, or other serious health issues. It’s particularly important for newborns, where early screening can make a significant difference in outcomes.
Short name
Metabolic screening test
Frequently asked questions
Why might my healthcare provider suggest this test?
How long does it take to get results from this test?
Is this test painful?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy