Acsf3fullmutanlbldtseq
A genetic test that identifies mutations in the ACSF3 gene to help diagnose inherited metabolic disorders affecting energy metabolism and skin health.
{"ACSF3 gene testing detects genetic mutations causing metabolic disorders","Sample is typically collected from blood or tissue","Results help confirm diagnosis of conditions like multiple carboxylase deficiency","Test is important for family planning and treatment decisions","Results typically take 2-4 weeks to process"}
Key facts at a glance
- LOINC
- 77047-9
- Short code
- ACSF3
- Synonyms
- ACSF3 Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- csf
- Container
- Sterile CSF collection tube (polypropylene)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- sequencing
- CPT
- 81405
- SNOMED
- 118864006
- Specimen volume
- 0.5-1.0 mL CSF
- Stability
- Refrigerated (2-8°C) for up to 72 hours; frozen (-20°C or -80°C) for long-term storage. Avoid repeated freeze-thaw cycles.
- Hemolysis max
- 200
- TAT
- 336–672 hours
- Order
- routine
What is this test?
The ACSF3 gene full mutation analysis is a genetic test that looks for changes (mutations) in the ACSF3 gene. This gene provides instructions for making an enzyme called acyl-CoA synthetase family member 3, which is important for breaking down certain fatty acids and amino acids in the body. When this gene has mutations, it can lead to metabolic disorders.
How is the test performed?
A healthcare provider will collect a sample of your blood or tissue. For blood tests, a small needle is inserted into a vein in your arm to draw blood. For tissue samples, a small tissue sample may be taken. The sample is then sent to a laboratory where scientists analyze the DNA from the sample to look for mutations in the ACSF3 gene.
Why might I need this test?
Your doctor may recommend this test if you or your child shows symptoms of an ACSF3-related disorder, such as developmental delays, skin rashes, seizures, or metabolic problems. It may also be recommended if other tests suggest a metabolic disorder, or if there is a family history of ACSF3-related conditions.
What do the results mean?
Results can be positive (mutations found), negative (no mutations found), or variant of uncertain significance (a change was found but its effect is unknown). A positive result helps confirm a diagnosis of an ACSF3-related disorder, while a negative result does not rule out the condition completely. Your doctor will interpret the results in the context of your symptoms and other test findings.
Reference range
No pathogenic variants detected in the ACSF3 gene. A negative result does not exclude the possibility of disease-causing variants in regions not analyzed or rare variants not detected by this assay.N/A
No special preparation required. Inform patient that this is a genetic test which may have implications for family members. Genetic counseling is recommended before and after testing.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Frequently asked questions
How long does it take to get results?
Do I need to fast before this test?
Is this test covered by insurance?
Can this test determine if I will pass the condition to my children?
What is the difference between blood and tissue sample testing?
Sources
- 1
- 2
- 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