Table 1.
Subject disease variants and testing.
| Subject | Variants | Lab | Technique | CLIA (Y/N) |
|---|---|---|---|---|
| 1 | Homozygous c.1528G > C (Pathogenic) (1) | Dr. Arnold Strauss | Sanger | N |
| 2 | c.1528G > C (Pathogenic)/c.479_482delinsAATA (Novel, Likely pathogenic) |
Prevention Genetics | NGS + Sanger | Y |
| 3 | Homozygous c.1528G > C (Pathogenic) | NA | NA | NA |
| 4 | Homozygous c.1528G > C (Pathogenic) | Dr. Arnold Strauss | Sanger | N |
| 5 | c.1528G > C (Pathogenic)/c.1620 + 2_1620+6delTAAGG (IVS15 + 2_+6delTAAGG) (Pathogenic) (2) | Emory Genetics Lab | Targeted Testing | Y |
| 6 | Homozygous c.1528G > C (Pathogenic) | Dr. Kerr Barnes Jewish Hospital | PCR-RFLP | N |
| 7 | Homozygous c.1528G > C (Pathogenic) | Dr. Arnold Strauss, Yale | Sanger | N |
Abbreviations: NGS = Next Generation Sequencing; CLIA = Clinical Laboratory Improvement Amendments; PCR-RFLP = Polymerase Chain Reaction-Restriction Fragment Length Polymorphism; NA = data was not available in the medical record.
1. Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proceedings of the National Academy of Sciences of the United States of America. 1995; 92(3):841–845.Structured.
2. Ibdah, J. A., Bennett, M. J., Rinaldo, P., Zhao, Y., Gibson, B., Sims, H. F., & Strauss, A. W. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med, 1999; 340(22), 1723–1731. doi:10.1056/nejm199906033402204.