Table 3 Early Check rubric for categorizing molecular diagnoses
From: Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Variant result (presumed zygosity) | Initial screen molecular interpretation (without variant confirmation) | Final molecular interpretation (after variant confirmation) | ||
|---|---|---|---|---|
Autosomal recessive | ||||
| Â | Â | Variants in trans | Variants in cis | Unable to confirm phase or N/A |
P (hom.) | Probable molecular diagnosis | Definite molecular diagnosis | N/A | Probable molecular diagnosis |
P/P (comp. het.) | Possible molecular diagnosis | Definite molecular diagnosis | False positive | Possible molecular diagnosis |
LP (hom.) | Possible molecular diagnosis | Likely molecular diagnosis | N/A | Possible molecular diagnosis |
P/LP (comp. het.) | Possible molecular diagnosis | Likely molecular diagnosis | False positive | Possible molecular diagnosis |
LP/LP (comp. het.) | Possible molecular diagnosis | Likely molecular diagnosis | False positive | Possible molecular diagnosis |
P (het.) | Probable carriera | N/A | N/A | Definite carrier |
LP (het.) | Possible carriera | N/A | N/A | Likely carrier |
P or LP and VUS (comp. het.)b | N/A | Uncertain | False positive | Uncertain |
X-linked (female newborns) | ||||
P (hom.) | Probable molecular diagnosis | Definite molecular diagnosis | N/A | Probable molecular diagnosis |
P/P (comp. het.) | Possible molecular diagnosis | Definite molecular diagnosis | False positive | Possible molecular diagnosis |
LP (hom.) | Possible molecular diagnosis | Likely molecular diagnosis | N/A | Possible molecular diagnosis |
P/LP (comp. het.) | Possible molecular diagnosis | Likely molecular diagnosis | False positive | Possible molecular diagnosis |
LP/LP (comp. het.) | Possible molecular diagnosis | Likely molecular diagnosis | False positive | Possible molecular diagnosis |
P (het.) | Probable molecular diagnosis or Probable carrierc | N/A | N/A | Definite molecular diagnosis or Definite carrierc |
LP (het.) | Possible molecular diagnosis or Possible carrierc | N/A | N/A | Likely molecular diagnosis or Likely carrierc |
LP or P and VUS (comp. het.)b | N/A | Uncertain | False positive | Uncertain |
Autosomal dominant | ||||
P (het.) | Probable molecular diagnosis | Definite molecular diagnosis | ||
LP (het.) | Possible molecular diagnosis | Likely molecular diagnosis | ||
VUS (het.)b | N/A | Uncertain | ||
X-linked (males) | ||||
P (hemi.) | Probable molecular diagnosis | Definite molecular diagnosis | ||
LP (hemi.) | Possible molecular diagnosis | Likely molecular diagnosis | ||
VUS (hemi.)b | N/A | Uncertain | ||
