PGT-M: Preimplantation Genetic Testing for Single-Gene Disorders
PGT-M, short for Preimplantation Genetic Testing for Monogenic or Single-Gene Disorders, is a specialized form of genetic testing used during IVF. Its purpose is to reduce the risk of passing on a known inherited genetic condition.
PGT-M is designed for individuals or couples who carry a specific, identified genetic mutation.
By testing embryos before pregnancy begins, PGT-M helps identify which embryos are unaffected by that condition. This allows families to move forward with greater clarity and confidence.
Genetic risks may be identified through carrier screening, family history, a prior pregnancy, or a child with a known genetic disorder. In these situations, PGT-M can empower you on your path toward building a healthy family.
PGT-M Fast Facts
- PGT-M tests embryos for one specific, known genetic mutation
- It does not screen for all genetic or chromosomal conditions
- IVF is required, and a frozen embryo transfer (FET) is always part of the process
- Test development is customized and takes time
- PGT-M significantly reduces genetic risk, but does not guarantee a healthy baby
- Genetic counseling is an essential part of the process
Your care team will guide you through each step to help you make informed decisions aligned with your goals and values.
What Is PGT-M?
PGT-M is a type of preimplantation genetic testing performed on blastocyst-stage embryos created through IVF.
Unlike chromosome screening tests, PGT-M focuses on a specific known genetic mutation identified in one or both genetic parents.
Because each mutation is unique, every PGT-M test is custom-designed. The test evaluates embryos for the condition of concern and classifies them as:
- Unaffected
- Carriers
- Affected by the condition
In most cases, embryos that are unaffected are prioritized for transfer. Depending on the condition and individual circumstances, carrier embryos may also be discussed with guidance from a genetic counselor.
Who Should Consider PGT-M And What Conditions Can Be Tested?
PGT-M may be recommended if you or your partner:
- Have been diagnosed with a genetic condition
- Are carriers of the same autosomal recessive disorder
- Carry an X-linked genetic condition
- Have an autosomal dominant condition
- Carry a mutation associated with hereditary cancer risk
- Have a known family history of a single-gene disorder
PGT-M can be designed to test for thousands of single-gene disorders, provided the specific mutation has been identified, and a personalized test can be developed.
Common Categories and Examples
Here’s a rundown of the common categories of conditions that PGT-M tests for.
Autosomal Recessive Conditions
- Cystic fibrosis
- Sickle cell disease
- Tay-Sachs disease
X-Linked Conditions
- Duchenne muscular dystrophy
- Hemophilia
- Fragile X syndrome
Autosomal Dominant Conditions
- Huntington’s disease
- Neurofibromatosis
- Marfan syndrome
Hereditary Cancer Syndromes
- BRCA1 and BRCA2
- Lynch syndrome–associated genes (MLH1, MSH2, MSH6, PMS1, PMS2)
- TP53
- CHEK2
Eligibility depends on the exact mutation and available family information. A genetic counselor can help determine whether PGT-M is appropriate and direct you to relevant educational resources.
A Closer Look at the PGT-M Process
The PGT-M process is detailed and collaborative, involving genetic screening, counseling, IVF, and specialized embryo testing.
Preconception Genetic Testing
Both intended parents (or the egg and sperm source) complete carrier screening or diagnostic genetic testing. If a qualifying risk is identified, PGT-M may be recommended.
Referral and Family History
Your CNY Fertility provider submits genetic results and known family history for review to determine whether a custom test can be developed.
Genetic Consultation
A genetic counselor reviews your case, explains the process, and identifies whether additional family DNA samples are needed.
DNA Collection
DNA samples are collected from the intended parents and, when necessary, close relatives. These samples are used to develop a personalized genetic test specific to your family and the condition being evaluated.
IVF and Embryo Biopsy
Embryos are created through IVF. At the blastocyst stage (days 5–7), a small number of cells are biopsied. Embryos are frozen while samples are sent for genetic analysis.
Testing and Results
Embryos are typically classified as unaffected, carriers, or affected. Initial results usually take 4-6 weeks.
If additional IVF cycles are needed, results are often available more quickly because developing a new test may not be required.
Frozen Embryo Transfer
If unaffected embryos are identified, they may be prioritized for transfer during a future frozen embryo transfer cycle.
How Much Does PGT-M Cost?
PGT-M is one of the most expensive fertility testing options. It requires custom test development for each family, followed by per-embryo testing, which makes it significantly more complex than other forms of genetic screening.
As a result, PGT-M generally adds anywhere from $5,000 to $10,000 or more to an IVF cycle. This typically includes custom test creation and testing of an initial group of embryos.
Important things to note:
- Costs vary depending on the nature of your individualized testing needs, the number of embryos being tested, and the IVF clinic providing your care
- In some cases, additional genes or conditions may be added to an existing test design
- If multiple IVF cycles are needed, testing additional embryos often costs less, since developing a completely new test may not be required
- These costs do not include IVF itself, which already involves significant expense, or the required frozen embryo transfer (FET) that is needed whenever genetic testing is performed
Because CNY Fertility is deeply focused on making fertility treatment more accessible and affordable, we are generally able to offer PGT-M testing for less than the national average.
Your care team and financial counselor can help review expected costs based on your specific situation and insurance coverage.
Full Treatment Cost Comparison
(IVF + Medications + PGT-M + FET)
Treatment Path | Approximate Total Cost |
CNY Fertility | Around $14,000 |
National Average | Around $30,000 |
CNY’s significantly lower IVF and FET pricing is what makes advanced options like PGT-M more accessible to many patients.
Financing Options
CNY Fertility offers in-house financing for core IVF services billed by CNY, including:
- Payment plans up to two years
- As little as 25% down on eligible IVF fees
Genetic testing fees are billed separately by the genetics laboratory. A financial counselor can help you understand what is eligible for financing and plan accordingly.
PGT-M Compared to Other Genetic Tests
PGT-M vs PGT-A
PGT-M tests for a specific single-gene mutation.
PGT-A screens embryos for chromosomal abnormalities.
They answer different questions and are often used together.
PGT-M vs PGT-SR
PGT-M evaluates single-gene disorders.
PGT-SR is used for structural chromosome rearrangements.
PGT-M vs Prenatal Testing
PGT-M tests embryos before pregnancy.
Prenatal testing occurs during pregnancy and may involve more complex decisions later.
Frequently Asked Questions About PGT-M
Does PGT-M guarantee a healthy baby?
No. PGT-M significantly reduces the risk of a specific condition but cannot eliminate all health risks.
Is IVF required for PGT-M?
Yes. Embryos must be created through IVF.
Can PGT-M be combined with PGT-A?
Yes. PGT-M is typically performed alongside PGT-A.
How accurate is PGT-M?
When properly designed and interpreted, PGT-M is highly accurate.
Does insurance cover PGT-M?
Coverage varies widely. A financial counselor can help review your benefits.
The Bottom Line
PGT-M can be life-changing for families facing inherited genetic conditions, but it is also complex and costly. At CNY Fertility, our mission is to make advanced fertility care, including PGT-M, more accessible and more affordable without compromising quality or expertise.
Our team has extensive experience coordinating PGT-M cases, working closely with genetic counselors and laboratories, and helping patients navigate both the medical and financial aspects of care.
If you carry a known genetic mutation or have a family history of inherited disease, the next step is a consultation to review your options, expected costs, and whether PGT-M is right for you.
