Test Code: 9930

3-Hydroxy-3-Methylglutaryl CoA Lyase (HMG) Deficiency: HMGCL Gene Sequencing
Test Code: 9930
Turnaround time: 4 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.


PCR amplification of 9 exons contained in the HMGCL gene is performed on the patient’s genomic DNA. Direct Sanger sequencing of amplification products is performed in both forward and reverse directions. This assay does not analyze the promoter region, deep intronic regions, or other regulatory elements, and does not detect large deletions.


Clinical Sensitivity:
68/72 mutations identified in 13 patients from Saudi Arabia. 10/10 mutations identified in 5 Japanese patients.
21/22 mutations identified in 11 Portuguese patients. 6/6 mutations identified in 3 Czech patients.

Analytical Sensitivity: ~99%.

Mutations in the promoter region, some mutations in the introns, other regulatory element mutations, and large deletions cannot be detected by this analysis.

Results of molecular analysis should be interpreted in the context of the patient’s biochemical phenotype.


Submit only 1 of the following specimen types

* Preferred specimen type: Whole Blood

Type: Whole Blood
Specimen Requirements:
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.

Type: Saliva
Specimen Requirements:
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).
• HMGCL Gene Deletion/Duplication (test code: 4208).