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The Cincinnati Children’s Molecular Genetics Laboratory introduces MetaboSeq, our next-generation sequencing panel of 19 genes associated with fatty acid oxidation disorders (FAOD).
MetaboSeq provides a rapid and cost-effective analysis of the most common genetic causes of nonspecific FAOD. The indications for MetaboSeq include:
Sanger sequencing of CPT2, ACADM, ACADVL and SLC22A5, as well as genotyping for the common E510Q mutation in HADHA, is also available when a specific diagnosis is suggested by preliminary biochemical testing.
MetaboSeq 19-gene sequencing panel
MCAD deficiency (ACADM)
CPT2 deficiency (CPT2)
VLCAD deficiency (ACADVL)
LCHAD deficiency (HADHA 1528 G>C genotyping)
Primary carnitine deficiency (SLC22A5)
Insurance preauthorization is available for every test, and we offer both insurance and third-party billing options.
Clinical interpretations are written in conjunction with our nationally recognized pediatric cardiologist, board-certified molecular and medical geneticists and genetic counselors. Each report includes a detailed interpretation of the findings, their clinical significance and clinical recommendations for follow-up.
The Molecular Genetics Laboratory combines state-of-the-art testing with comprehensive interpretation of test results by experts.
We offer a guide for clinicians to comprehensive molecular testing for fatty acid oxidation disorders that includes:
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