Genetic Mutation Analysis for NAGS (Nicotinamide Phosphoribosyltransferase)
This test checks for mutations in the NAGS gene, which plays a role in the production of nicotinamide adenine dinucleotide (NAD+)—a key molecule for energy metabolism and cellular function. Mutations in this gene may be linked to certain metabolic or genetic conditions.
["This test helps identify genetic variations that could influence how your body processes certain nutrients or may contribute to inherited metabolic disorders."]
Key facts at a glance
- LOINC
- 53877-7
- Short code
- NAGS gene Mut Anl Bld/T
- Synonyms
- NAGS gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of metabolic disorders, unexplained symptoms like fatigue, developmental delays, or neurological issues, or if genetic counseling suggests a risk for NAGS-related conditions.
What to Expect Before the Test
No special preparation is typically needed. You may provide a blood sample, saliva sample, or other biological fluid depending on the testing method. Always follow your healthcare provider’s instructions for sample collection.
What the Results Mean
Results can be categorized as normal (no mutations detected), variant of uncertain significance (VUS—needs further evaluation), or pathogenic (known to cause disease). Consult your provider for interpretation based on your clinical picture and family history.
Common Conditions Linked to NAGS Mutations
While NAGS mutations are rare, they may be associated with conditions affecting NAD+ metabolism, such as certain forms of mitochondrial dysfunction, developmental disorders, or metabolic syndromes. Early detection can help guide treatment or management strategies.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical significance: Genetic testing for NAGS mutations is primarily used for diagnostic confirmation in suspected cases of inherited metabolic disorders, genetic counseling, or carrier screening in families with a history of related conditions. Results may influence long-term monitoring, dietary recommendations, or referral to specialists.
Short name
NAGS Gene Mutation Test
Frequently asked questions
What does a positive result mean for my health?
How often should I get this test?
Can lifestyle changes help if I have a NAGS mutation?
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