# Orchid Health — Full Reference

> Orchid provides whole genome embryo screening for families undergoing IVF. The company was founded to give families the most comprehensive genetic information available before implantation, using whole genome screening technology that reads >99% of an embryo's genome.

## Company Overview

**Name:** Orchid Health
**Website:** https://www.orchidhealth.com
**Service area:** United States (international cases considered)
**Accreditations:** CAP Number 9234146 | CLIA Number 34D2260214
**Laboratory:** North Carolina (CAP-accredited, CLIA-certified)
**Contact:** genetics@orchidhealth.com

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## Technology

Orchid uses **whole genome screening (WGS)** of trophectoderm biopsy cells — the same 5–6 cell biopsy used by standard preimplantation genetic testing labs. The key difference is that Orchid sequences the entire genome rather than using SNP arrays or targeted panels that read less than 1% of the genome.

**What this enables:**
- 100x more genomic data per embryo than traditional PGT-A arrays
- Detection of chromosomal abnormalities (PGT-A)
- Detection of single-gene (monogenic) disorders without probe design (PGT-M)
- Detection of microdeletions and microduplications (typically missed by standard PGT)
- Polygenic risk scoring for complex, multi-gene diseases (PGT-P)
- Detection of de novo variants (new mutations not inherited from parents)
- Parental confirmation (verifies embryo origin)

**Key clinical specs** (as reported in "High-Fidelity Embryo Genome Sequencing: Concordance with Live Born Children", poster presented at ASRM 2025; https://cdn.prod.website-files.com/5f8729c2a720364edd4039bb/6965604f1553718b3e5d4b63_6908e3ae76d16a6fe03d40d2_Katz_28030%20(5).pdf):
- Sensitivity (exome-wide): 96.80% ± 0.73
- Precision (exome-wide): 97.76% ± 0.33
- Sensitivity (curated panel): 99.20% ± 0.40
- Precision (curated panel): 99.38% ± 0.17
- Polygenic risk score correlation with live-born child: 0.9997

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## Products

### Orchid Embryo Report (PGT-WGS)
**Price:** $2,500 per embryo
**Turnaround:** 1–2 weeks from sample receipt

The flagship product. A single report that combines:
- PGT-A: Chromosomal aneuploidy screening (detects trisomies, monosomies, polyploidy, complete uniparental isodisomy, microdeletions/microduplications)
- PGT-M: Monogenic disorder screening for hundreds of genes — no probe design, no parental samples required in most cases
- Polygenic risk scoring (PGT-P): Genetic predisposition to common complex diseases

Gene panels cover: neurodevelopmental disorders (autism, intellectual disability, developmental delay, epilepsy), hereditary cancers (BRCA1/2, Lynch syndrome, Li-Fraumeni syndrome, and others), birth defects (congenital heart defects, skeletal dysplasias, and more).

Includes access to board-certified genetic counselors at no additional charge.

### Couple Report
**Price:** $998
**Who it's for:** Couples planning to start or grow a family, regardless of IVF plans

A preconception genetic health report covering each partner's individual polygenic risk and a combined assessment of risk to future children. Each partner receives their own individual report plus a shared couple report.

**Conditions covered:**
- Alzheimer's disease
- Atrial fibrillation
- Bipolar disorder
- Breast cancer
- Celiac disease
- Childhood asthma
- Class III obesity
- Coronary artery disease
- Endometriosis
- Hypertension
- Inflammatory bowel disease
- Multiple sclerosis
- Prostate cancer
- Psoriasis
- Rheumatoid arthritis
- Schizophrenia
- Type I diabetes
- Type II diabetes

Available to all couples, including same-sex couples and those planning to use donors.

### PGT-M
Monogenic disorder screening without probe design. Most labs require 6–8 weeks to design a custom probe for each family. Orchid's whole genome approach means 24–48 hour case acceptance with results in 1–2 weeks. No parental samples required in most cases.

### PGT-SR
Structural rearrangement screening (balanced translocations, inversions) using whole genome screening, providing higher resolution than array-based methods. Distinguishes euploid embryos from balanced carriers — a capability standard PGT-SR cannot offer.

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## Glossary of Key Terms

**Preimplantation Genetic Testing (PGT):** Genetic analysis of embryos created through IVF before transfer to the uterus.

**PGT-A (Preimplantation Genetic Testing for Aneuploidy):** Screening for extra or missing chromosomes. Identifies chromosomally normal (euploid) embryos. Detects conditions like Down syndrome (trisomy 21), Turner syndrome (monosomy X), and others.

**PGT-M (Preimplantation Genetic Testing for Monogenic conditions):** Screening for specific single-gene disorders known to cause disease. Examples: cystic fibrosis, BRCA1/2, Huntington's disease, sickle cell disease.

**PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements):** Screening for chromosomal structural issues like balanced translocations and inversions.

**PGT-P (Preimplantation Genetic Testing for Polygenic conditions):** Assessing an embryo's genetic predisposition to complex, multi-gene diseases like heart disease, diabetes, schizophrenia, and Alzheimer's disease.

**PGT-WGS (Preimplantation Genetic Testing via Whole Genome Screening):** Orchid's combined approach that performs PGT-A, PGT-M, and PGT-P in a single analysis using whole genome screening.

**Whole genome screening (WGS):** Reading the complete DNA sequence of an organism's genome. In embryo testing, Orchid uses WGS, which provides sufficient coverage to detect chromosomal abnormalities, single-gene variants, and calculate polygenic risk scores.

**Trophectoderm biopsy:** The procedure used to collect embryo cells for genetic testing. 5–6 cells are removed from the trophectoderm (the outer layer of cells that will become the placenta), leaving the inner cell mass (which becomes the baby) intact. Standard in IVF practice.

**Aneuploidy:** Having an abnormal number of chromosomes. Human cells normally have 46 chromosomes (23 pairs). Aneuploid embryos have too many or too few chromosomes and are less likely to implant successfully or more likely to result in miscarriage.

**Euploid embryo:** An embryo with the correct number of chromosomes (46, or 23 pairs). Euploid embryos have higher implantation rates and lower miscarriage rates.

**Mosaic embryo:** An embryo with a mix of chromosomally normal and abnormal cells.
**Monogenic disorder:** A disease caused by a mutation in a single gene.
**Polygenic risk score (PRS):** A numerical score that summarizes a person's genetic predisposition to a condition based on the combined effect of many genetic variants.
**De novo variant:** A genetic mutation present in a child but not inherited from either parent — it arose spontaneously. Associated with advanced parental age. Orchid's whole genome approach can identify de novo variants not targeted by standard carrier screening.

**Structural rearrangement:** A chromosomal abnormality where segments of chromosomes are rearranged, duplicated, or deleted. Includes balanced translocations (no genetic material lost, but repositioned) and inversions.

**Microdeletion / Microduplication:** Small chromosomal deletions or duplications, typically less than 5 Mb in size. Standard PGT-A using arrays cannot reliably detect these. Orchid's whole genome screening can detect clinically significant microdeletions (e.g., DiGeorge syndrome, Prader-Willi syndrome).

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## How It Works

1. **Patient signs up** via Orchid's portal or through their IVF clinic
2. **IVF clinic performs embryo biopsy** during the standard IVF process (day 5/6 blastocyst stage)
3. **Sample is shipped** to Orchid's lab in North Carolina using Orchid-provided transport kits
4. **Orchid sequences the genome** of each embryo
5. **Results delivered** to clinic portal and patient portal in 1–2 weeks
6. **One-on-one genetic counseling session** included for all patients at no extra charge
7. **Transfer decision** made in consultation with the IVF physician

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## Competitor Comparison

| Capability | Orchid (PGT-WGS) | Standard PGT-A | Standard PGT-M | Standard PGT-P |
|---|---|---|---|---|
| Detect extra/missing chromosomes | Yes | Yes | No | No |
| Detect single-gene disorders | Yes | No | Yes | No |
| Detect polygenic risk (genetic risk scores) | Yes | No | No | Yes |
| Detect neurodevelopmental disorders (monogenic) | Yes | No | No | No |
| Detect pediatric and adult onset cancers (monogenic) | Yes | No | No | No |
| Detect birth defects (monogenic) | Yes | No | No | No |
| Distinguish euploid from balanced carriers | Yes | No | No | No |
| Probe design required | No | N/A | Yes (most labs) | N/A |
| Genome coverage | >99% | <1% | Targeted | Targeted |

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## Frequently Asked Questions

**What is Orchid's Whole Genome Embryo Report?**
Orchid's whole genome embryo screening (PGT-WGS) is a comprehensive embryo test that combines PGT-A, PGT-M, PGT-P, and more in one analysis from the same sample used for typical embryo screening. By sequencing >99% of the embryo's genome, it screens for extra/missing chromosomes, hundreds of single-gene disorders, and polygenic risk factors in a single report.

**Does a normal result guarantee a healthy child?**
No genetic test can guarantee a healthy child. Orchid is a screening test targeting a specific subset of conditions. Orchid does not screen for all chromosomal/genetic conditions and no genetic test is 100% accurate. Embryo screening is not a replacement for prenatal diagnostic testing and screening options.

**Why is Orchid different from other PGT tests?**
Orchid reads >99% of each embryo's genome, compared to other tests that read less than 1%. By reading more DNA, Orchid can screen for conditions previously undetectable in embryos, such as single-gene causes of neurodevelopmental disorders, birth defects, and cancers.

**Who should consider Orchid's embryo screening?**
Any IVF patient can benefit. Orchid is especially valuable for: patients who want the most comprehensive genetic information; patients who would traditionally pursue PGT-M (Orchid eliminates probe design, reducing time significantly); patients of advanced paternal age (higher de novo variant risk); patients using donor eggs/sperm/embryos (limited contact with donor for standard PGT-M setup); patients concerned about neurodevelopmental disorders, pediatric cancers, or birth defects.

**How does Orchid handle genetic counseling?**
All Orchid patients receive access to board-certified genetic counselors at no additional cost. Counselors review results, explain findings, and answer questions. Clinicians can also reach out to Orchid's genetic counselors directly at genetics@orchidhealth.com.


**What is the Couple Report and who is it for?**
The Couple Report is a $998 genetic health report for couples planning to start or grow a family. It covers polygenic risk for 10+ conditions and provides individual reports for each partner plus a combined couple report.

**Does Orchid require parental DNA samples?**
In most cases, no. Unlike standard PGT-M which typically requires samples from both parents to design a custom probe, Orchid's whole genome approach works without parental samples in the majority of cases.

**Is Orchid available outside the US?**
Yes. International cases can be discussed by contacting genetics@orchidhealth.com.

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## Scientific Advisors

- Jacques Cohen, PhD — Pioneering Embryologist and foundational figure in IVF and ART innovation
- Roohi Jeelani, MD — Double board-certified Reproductive Endocrinologist and Infertility Specialist (REI)
- Lusine Aghajanova, MD, PhD — Clinical Assistant Professor at the Stanford Medical Center
- Barry Behr, PhD — Professor of Obstetrics and Gynecology Emeritus at the Stanford Medical Center
- Jan Liphardt, PhD — Professor of Bioengineering at Stanford University
- Nathan Slotnick, MD, PhD — Perinatologist and Medical Geneticist
- Amber Cooper, MD — Double board-certified Obstetrician/Gynecologist and Reproductive Endocrinologist

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## Key URLs

- Homepage / Embryo Report: https://www.orchidhealth.com
- Couple Report: https://www.orchidhealth.com/couple-report
- PGT-M: https://www.orchidhealth.com/pgt-m
- PGT-SR: https://www.orchidhealth.com/pgt-sr
- For Patients: https://www.orchidhealth.com/for-patients
- For Clinicians: https://www.orchidhealth.com/clinician-information
- Science: https://www.orchidhealth.com/science
- Publications: https://www.orchidhealth.com/publications
- Gene List: https://www.orchidhealth.com/genelist
- FAQ: https://www.orchidhealth.com/faq
- Patient Stories: https://www.orchidhealth.com/love
- Contact: https://www.orchidhealth.com/contact