HMG-CoA lyase deficiency
Diagnosis and Testing
How do I get tested for HMG-CoA lyase deficiency?
Genetic testing is available for HMG-CoA lyase deficiency. Genetic testing looks for changes in the DNA that cause the genes to function incorrectly. Genetic testing is typically ordered by a geneticist or genetic counselor. You can find a genetic counselor near you at nsgc.org. Laboratories that test for HMG-CoA lyase deficiency at the Genetic Testing Registry.
References
- Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html#4. Accessed 02JAN2019
More Diagnosis and Testing Content
Is there newborn screening for HMG-CoA lyase deficiency?
Is there more than one test for HMG-CoA lyase deficiency?
Who else in my family should I test for HMG-CoA lyase deficiency?
Is there newborn screening for HMG-CoA lyase deficiency?
Testing for HMG-CoA lyase deficiency is performed as part of newborn screening in all states in the US. This testing, known as biochemical testing, looks for abnormalities in the levels of compounds in blood. Newborn screening helps to identify individuals with conditions that are treatable as early as possible so treatment and intervention can begin as quickly as possible.
References
- Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html#4. Accessed 02JAN2019
Is there more than one test for HMG-CoA lyase deficiency?
In addition to the newborn screening blood test and genetic test, HMG-CoA lyase deficiency can be tested for through a urine test.
References
- Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html#4. Accessed 02JAN2019
Who else in my family should I test for HMG-CoA lyase deficiency?
Siblings of an individual with HMG-CoA lyase deficiency can be tested using blood, urine or skin samples to determine if they are also affected. Additionally, if both genetic changes in the affected individual have been identified, other family members, such as the parents' siblings and cousins can have genetic testing to see if they are carriers and at risk of passing the condition on to future children.
References
- Organic Acid Oxidation Disorders: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Screening, Technology and Research in Genetics (STAR-G). April 20, 2016; http://www.newbornscreening.info/Parents/organicaciddisorders/HMGCoA.html#4. Accessed 019JAN2019
- "HMG-CoA Lyase Deficiency - Genetics Home Reference - NIH." U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficiency Accessed 19JAN2019
