ACADM Sequence Analysis (Familial Mutation/Variant Analysis)

Clinical Use

Use

The ACADM Sequence Analysis is crucial for detecting Medium chain acyl CoA dehydrogenase (MCAD) deficiency, an inherited metabolic disorder affecting energy conversion from fats. This analysis must be conducted in conjunction with known familial variants to ensure accurate results. It plays a significant role in identifying symptomatic individuals with a family history of MCAD deficiency, guiding management and prevention strategies. Clinical manifestations include symptoms like vomiting, fatigue, and hypoglycemia, showing typically in infancy or childhood but can also appear in adults. Early and accurate testing helps manage potential complications associated with this deficiency by enabling preventive care through regular feeding and avoiding fasting.

Special Instructions

Specimens must be accompanied by a laboratory report including the relative's variant information, the biological relationship of the subject to the tested relative, and the clinical status of the patient. If the familial variant was discovered in a different laboratory, consultation with one of our genetic counselors is strongly recommended before specimen submission.

Limitations

This test is only suitable for individuals with a known familial variant and cannot be performed in isolation. Clinical correlation is essential, and results should be interpreted in the context of family history and clinical findings. Specimens must arrive within 72 hours, and failures to adhere to shipping requirements can result in unsatisfactory test results. Additionally, negative results do not completely eliminate the risk of having an affected child, as variants may not be detected if they are not included in the screening panel or if the familial variant is unknown.

Test Details