3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Deletion/Duplication
Test Code: 4208
Turnaround time: 2 weeks
3-Hydroxy-3-methylglutaryl-CoA lyase (HMG) deficiency
This test is indicated for:
- Individuals with a clinical and biochemical diagnosis consistent with HMG deficiency.
- Carrier testing in individuals with a family history of HMG deficiency.
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. Prevalence of HMG deficiency is rare with incidence estimates of 1:100,000 live births.
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
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.
OrageneTM Saliva Collection kit (available through CEN4GEN) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
• Known Mutation Analysis (test code: 6875).