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
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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.

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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
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

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