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Clinical symptoms were reported for 40 (31%) patients with positive LC-FAOD genotypes and for 14 (27%) patients with BIV genotypes.The most frequently reported symptoms were elevated CK (77%), rhabdomyolysis (40%), muscle myopathy (30%) and cardiomyopathy (20%) for positive patients and elevated CK (50%), muscle myopathy (36%), rhabdomyolysis (12%) and hypoketotic hypoglycemia (10%) for BIV patients.Notably, cardiomyopathy was not reported for any patients with BIV genotypes.Abnormal NBS results for LC-FAOD were reported for 1,114/1,895 patients, of whom 140 (13%) had positive or BIV genotypes and 354 (32%) had a single heterozygous genotype.Notably, three patients presenting clinically were found to have biallelic (P/LP/VUS) variants (1 ACADVL, 2 CPT2) and were reported with normal (false negative) NBS results for LC-FAOD.Abnormal acylcarnitine profiles were seen more among patients with positive genotypes than patients with BIV genotypes 42 (60%), 14 (41%), respectively.Inconclusive acylcarnitine profiles were seen more among patients with BIV 19 (56%) and single heterozygous 169 (64%) genotypes than patients with positive genotypes 26 (37%).Nineteen percent (n= 185) of 968 patients with negative LC-FAOD genotypes had abnormal acylcarnitine profiles.Conclusion: Genetic testing for LC-FAOD returned a large portion of VUS, suggesting the need for additional data to support definitive variant classifications.Providing NBS results, clinical symptoms, and acylcarnitine results for patients with biallelic genotypes including one or more VUS sheds light on the phenotypes of these difficult to diagnose patients.Abnormal NBS for LC-FAOD predicted biallelic (P/LP/VUS) LC-FAOD genotypes in 13% of patients and indicated the presence of a single variant in 32% of patients tested.Additional testing may be warranted in patients who present symptomatically given the diverse genetic findings among this tested population.