3-hydroxy-3-methylglutaric aciduria (HMG)

Diagnosis and Testing

Does it matter if you test blood vs. saliva vs biopsy for 3-Hydroxy-3-Methylglutaric Aciduria (HMG)?

Because different tissues will have different levels of organic and amino acids, it is important to test both urine and blood for a positive diagnosis of 3-Hydroxy-3-methylglutaric aciduria. Amnio acid and urine organic acid levels are not measured adequately in saliva tissue. Genetic testing is usually completed on a blood sample, however, DNA can also be isolated for testing from a saliva sample or skin biopsy.

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