Genetic sequencing of the GCDH gene (Glutaric Acid Dehydrogenase) with full mutation analysis
This test checks for mutations in the GCDH gene, which may be linked to conditions affecting metabolism and movement.
["This test helps identify genetic variations that could influence health risks or guide treatment options."]
Key facts at a glance
- LOINC
- 75401-0
- Short code
- GCDH Full Mut Anl Bld/T Seq
- Synonyms
- GCDH Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- sequencing
- 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
What Does This Test Measure?
The test analyzes the GCDH gene for specific mutations that could be associated with glutaric aciduria type 1 (GA1), a rare metabolic disorder. It involves sequencing the gene to detect any changes in its DNA structure that might affect how the body processes certain nutrients.
Why Might You Need This Test?
You may need this test if you have symptoms like movement problems, developmental delays, or neurological issues that doctors suspect could be linked to a genetic metabolic disorder. It could also be part of a broader genetic evaluation for family planning or prenatal screening.
Sample Collection and Process
A blood sample is typically collected to extract DNA for sequencing. The lab processes this sample to identify mutations in the GCDH gene. This test is usually done in a specialized laboratory with expertise in genetic testing.
Preparation and Expectations
No special preparation is usually needed, but you may be asked to fast or avoid certain medications before the blood draw. Results can take several weeks, depending on lab processes and genetic analysis timelines.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Mutations in the GCDH gene can cause glutaric aciduria type 1, a condition that disrupts the body’s ability to break down certain amino acids and fatty acids. Early detection can help manage symptoms through diet, medications, and monitoring to prevent complications like seizures, developmental delays, or movement disorders.
Short name
GCDH Gene Mutation Analysis
Frequently asked questions
What are the possible symptoms of GCDH gene mutations?
This test specifically focuses on genetic mutations in the GCDH gene, unlike metabolic tests that measure biochemical levels of substances in the blood or urine. Genetic sequencing provides deeper insight into potential genetic causes of metabolic disorders.
The blood draw is generally quick and may cause slight discomfort, but there are minimal risks like minor bruising or soreness at the site. No other significant risks are associated with this genetic sequencing test.
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