# Ploidy

The Ploidy column displays results from the **DRAGEN Ploidy Estimator**, which **detects aneuploidies** and **infers the sex karyotype in whole genome cases**.

Ploidy values are derived from the `*.ploidy_estimation_metrics.csv` DRAGEN output file.

## Ploidy estimation results

<mark style="background-color:$success;">**Pass**</mark>

* **All autosomes fall within the expected ploidy range.** No large‑scale autosomal copy number deviation is detected.

<mark style="background-color:$danger;">**Fail**</mark>

* **At least one autosome has a median ploidy score below 0.9 or above 1.1.**\
  Hover over the result to see which chromosomes are problematic.

**N/A**

* Ploidy metrics are not available.

## Best practices

* **Check ploidy early** in case review to quickly identify potential large‑scale chromosomal abnormalities.
* **Verify sex karyotype** by confirming whether the sex karyotype inferred from ploidy matches the [sex validation](/emedgene/emedgene-analyze-manual/reviewing_a_case/lab_tab/sample-quality-section/ngs-sample-quality-metrics/ngs-sex-validation.md) results to rule out sample swaps.
* **A failed ploidy result does not confirm a clinical abnormality**. It indicates aberrant copy number estimation and must be interpreted in the context of other QC metrics and genomic visualization.

## Ploidy availability by workflow

**Ploidy evaluation in the Lab tab is available only for whole genome FASTQ cases.**

In **whole genome FASTQ cases**, ploidy is shown in **both the DRAGEN QC report and the Lab tab.** The DRAGEN pipeline automatically generates the `*.ploidy_estimation_metrics.csv` file, which the platform uses to display ploidy results. Under this workflow, ploidy appears consistently across the interface.

In **whole genome** [**Bring your own DRAGEN (BYOD) VCF cases**](/emedgene/emedgene-analyze-manual/reviewing_a_case/lab_tab/sample-quality-section/dragen-qc-report/prerequisites-for-accessing-the-dragen-qc-report.md#option-2-vcf-case-bring-your-own-dragen-byod), ploidy is shown **only in the DRAGEN QC report, never in the Lab tab.** When a case is created from VCF, the DRAGEN metrics supplied in a `*.metrics.tar.gz` archive are used exclusively to generate the DRAGEN report and are not ingested into the Lab tab. The platform displays **N/A** for Ploidy in the Lab tab.


---

# Agent Instructions: Querying This Documentation

If you need additional information that is not directly available in this page, you can query the documentation dynamically by asking a question.

Perform an HTTP GET request on the current page URL with the `ask` query parameter:

```
GET https://help.connected.illumina.com/emedgene/emedgene-analyze-manual/reviewing_a_case/lab_tab/sample-quality-section/ngs-sample-quality-metrics/ploidy.md?ask=<question>
```

The question should be specific, self-contained, and written in natural language.
The response will contain a direct answer to the question and relevant excerpts and sources from the documentation.

Use this mechanism when the answer is not explicitly present in the current page, you need clarification or additional context, or you want to retrieve related documentation sections.
