ACAD9 Deficiency: ACAD9 Gene Deletion/Duplication
Test Code: 7103
Turnaround time: 2 weeks
Acyl-CoA dehydrogenase 9 (ACAD9) deficiency
This test is indicated for:
- Confirmation of a clinical diagnosis of ACAD9 deficiency in individuals who have tested negative for sequence analysis
- Carrier testing in adults with a family history of ACAD9 deficiency who have tested negative for sequence analysis
DNA isolated from peripheral blood is hybridized to a CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes which cover the entire genomic region.
Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.
Submit only 1 of the following specimen types
* Preferred specimen type: Whole Blood
In EDTA (purple top) or ACD (yellow top) tube: 3-5 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Sequence analysis of the ACAD9 gene is available.