Researchers developed a new genomic screening test for newborn screening called NeoSeq.

“It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost,” Wang et al said in a study published in the Orphanet Journal of Rare Diseases.

The detection rates of NeoSeq were 83.3% for fatty acid metabolism diseases, 42.9% for organic acid metabolism diseases, and 41.2% for amino acid metabolism diseases. Long chain fatty acid oxidation disorder (LCFAOD) is an example of a fatty acid metabolism disorder.

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NeoSeq showed a sensitivity of 55% in the detection of true positive cases, it detected disease-related genes in 20 infants out of the 36 true positive cases, and it found 5 infants with disease-risk variants among the false-positive cases (n=60) and negative cases (n=100) cohorts.

NeoSeq is based on multiplex polymerase chain reaction amplicon sequencing. It contains 2500 variations of 135 pathogenic genes associated with a total of 75 types of genetic diseases of the skeletal system, hematological system, mitochondria, lysosomal storage, immune system, peroxisomal biogenesis, and others.

The extensive list of diseases analyzed by the NeoSeq includes the types of LCFAOD, ie, carnitine palmitoyltransferase deficiency (genes CPT1A or CPT2), carnitine-acylcarnitine translocase deficiency (gene SLC25A20), long-chain acyl-CoA dehydrogenase deficiency (gene ACADVL), long-chain 3-hydroxyl-CoA dehydrogenase deficiency (gene HADHA), and mitochondrial trifunctional protein deficiency (genes HADHA and HADHB).

NeoSeq also analyzes hemophilia B (gene F9) and spinal muscular atrophy (SMA, gene SMN1).

Among the advantages of the new method, the authors emphasized that NeoSeq can detect most of the diseases assessed in the traditional tandem mass spectrometry next-generation sequencing screening with lower false-positive rates.

“However, it is still necessary to further optimize the panel design and add more clinically relevant genomic variants to increase its sensitivity,” they concluded.


Wang H, Yang Y, Zhou L, Wang Y, Long W, Yu B. NeoSeq: a new method of genomic sequencing for newborn screening. Orphanet J Rare Dis. 2021;16(1):481. doi:10.1186/s13023-021-02116-5