Single-gene re-analysis for euploid POC cases.

Incoming is the ideal fit: both parents’ saliva is needed, and recontact is more difficult once a case has closed. Archived cases work where consent and recontact allow.

A euploid array result is usually where the workup stops — the case that closes with the question still unanswered. Those closed cases are our lane: tissue exhausted, degraded, or never retained, and a euploid result months or years old. A POC exome cannot take them, since it needs the tissue or extracted DNA plus fresh parental samples for a trio and cannot run on an archived array data file. The inputs here are the array data you already generated plus both parents’ saliva, which they give us directly. No new specimen, no new workflow for your lab, and nothing that competes with an orderable on your own menu.

The report goes to the patient and her clinician, not to your lab — you are not a party to the result and carry no reporting obligation for it. What comes back to you is operational: which files were readable at the density we need, which were not and why, and at the pilot’s end an aggregate summary of how many qualified and what the re-analysis found. No patient-level result reaches you unless the patient herself directs it.If being involved as a research partner is of interest, under an IRB-approved protocol your lab would be a study site. We will discuss the protocol: what returns to you, on what schedule, and in what form.

We check for data eligibility before running the analysis. Files fail for ordinary reasons: too few genotyped markers on the platform, a truncated export, or a specimen that is substantially maternal. Any of those closes the case as “no informative fetal result” — nothing is inferred or reported from a file that did not clear the bar — and you get the list of which files failed and why, so any pattern is visible on your side too.

Nothing here sits on your critical path. Your array result goes out on its usual turnaround; the Reticular re-analysis begins only after we have the POC raw data and the parents’ sequenced genomes.

A CLIA-certified laboratory under contract to Reticular performs the parental sequencing; interpretation is done by our team. The patient initiates and pays Reticular directly — your lab is never billed for it and never bills for it. Under a formal research collaboration the funding path would differ: Reticular funds the sequencing, and your lab still neither pays for it nor is paid for it.

Your lab keeps the specimens and the arrays. What is shared, and in what form, is determined with counsel as part of the agreement. Whatever reaches us in the course of a case, including anything that identifies your clinicians, is used only to run that case. The release is the patient’s to give and your obligation is to honor it — ACMG’s stewardship policy names the testing laboratory the primary steward of her interest in controlling genetic privacy.

Exome or genome sequencing of euploid products of conception: Aminbeidokhti et al., medRxiv 2025 (preprint, N=118); Zhao et al., Genet Med 2021 (N=102); Bozhinovski et al., Balkan J Med Genet 2025 (N=66). Population scale: Arnadottir et al., Nature 2025 (467 loss trios). Maternal cell contamination: Lathi et al., Fertil Steril 2014 (N=1,222).