Skip to main content

Search
Diagnostic Services

Genetics Lab

|

Very Long Chain Acyl-CoA Dehydrogenase Deficiency Known Mutation Analysis

VLCAD is a treatable disorder of fatty acid metabolism caused by an inability to use very-long-chain fats for energy. Fatty acid metabolism occurs during prolonged fasting and/or periods of increased energy demands (fever, stress) when energy production relies increasingly on fat metabolism. Severe VLCAD can cause hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy and arrhythmias, lethargy, and failure to thrive. The age of onset can be from early infancy to adulthood. Infants can present with hypoglycemia, liver disease, and cardiomyopathy, children who present outside of the newborn period present with hypoglycemia, enlarged liver, muscle weakness and most patients who show symptoms in teen years or adulthood have periods of muscle weakness and cramping with reddish-brown urine. Full gene sequencing will identify greater than 98% of mutations in affected individuals. Carrier testing for biological family members is available once mutations are known.

Test Name: VLCAD Known Mutation
Test Code:
VLCAD KNOWN
Test Description:
Analysis of the ACADVL gene for known familial mutations.
Synonyms:
ACADVL, very-long-chain-acyl-CoA dehydrogenase deficiency
Indication:
This test is used for carrier, or diagnostic testing at-risk relatives or prenatal testing for known carrier parents. Mutations must be known.
Related Tests: VLCAD DNA Sequencing  
This test is used to provide additional information regarding diagnosed patients or as a secondary confirmation of diagnosis.

Clinical Links: VLCAD OMIM Entry
VLCAD Genetics Home Reference Entry
Availability:
Mon-Fri
Turnaround Time:
1-2 weeks
Methodology:
PCR followed by Sequencing
Reference Range:
Interpretive report will be provided
Requisition:
Consent Form:
Sample Requirements: Type
Whole blood: 1-3 ml in EDTA (purple top) or ACD (yellow top)
DNA: 5 micrograms extracted DNA

Processing
Do not spin. Keep at room temperature.

Shipping
Room temperature via overnight shipping. Blood samples must be processed within 3 days of collection.
Samples Received:
Monday-Friday 8am-5pm PST
Special Considerations:
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions