Target
A confirmed disease-associated variant in a specific gene.
Genetic Treatments · Single-Gene Conditions
PGT-M Testing
PGT-M is a case-specific preimplantation genetic test developed to assess transmission of a confirmed single-gene condition or pathogenic genetic variant within a family.
- The genetic diagnosis and variant in the family are confirmed
- Case-specific test development is completed before IVF
- Prenatal confirmation options are also offered during pregnancy
Understand the topic in one minute
PGT-M: Quick Summary
Inheritance
Autosomal dominant, autosomal recessive, X-linked or selected other Mendelian inheritance patterns.
Preparation
Case review, family samples and a case-specific test design may be required.
Result
Embryos may be reported in categories such as affected, unaffected, carrier or no result.
Key information
What Is PGT-M?
PGT-M is embryo testing for monogenic, or single-gene, conditions.
In brief:
Embryos are assessed for affected or carrier status according to the known genetic variant and inheritance pattern in the family. The test is not the same panel for every family; case-specific laboratory preparation may be required.
Before PGT-M can be developed, the genetic diagnosis in the family should be confirmed with a reliable molecular report. Family history or a suspected clinical diagnosis alone is often insufficient for test development.
Alongside direct variant analysis, the laboratory may use linkage analysis that follows DNA markers close to the variant. This approach is designed to reduce technical risks such as allele dropout or contamination.
PGT-M is optional. Alternatives such as prenatal diagnosis, natural conception, gamete donation, embryo donation or choosing not to pursue treatment should be discussed impartially during genetic counselling.
- The pathogenic classification of the gene variant is confirmed
- The inheritance pattern and recurrence risk for each pregnancy are estimated
- DNA samples from relevant family members are planned when needed
- The risks of starting IVF before test development is complete are discussed
Differences between tests
What Is the Difference Between PGT-M and Carrier Screening?
Carrier testing assesses reproductive risk in adults; PGT-M assesses the known family variant in embryos created through IVF.
Carrier / Diagnostic Testing
Assesses whether an individual carries a particular genetic variant or has the genetic condition.
- May be performed using a blood or saliva sample
- Helps estimate reproductive risk
- Does not directly provide a result about an embryo
PGT-M
Assesses transmission of a known family variant in embryos during an IVF cycle.
- May require development of a case-specific test
- Requires embryo biopsy
- Prenatal confirmation is still offered
Can PGT-M be performed for a variant of uncertain significance?
A variant classified as a VUS may not be disease-causing and may be reclassified over time. Laboratories may have different policies for such cases; detailed genetic assessment is required.
Who should be assessed?
Who May Be Suitable for PGT-M?
The key requirement is a clinically meaningful and confirmed single-gene risk.
Autosomal dominant condition
A disease-associated variant identified in one parent.
Autosomal recessive risk
Both parents carry relevant variants in the same disease gene.
X-linked condition
An X-linked risk through the mother or, in selected situations, the father.
Previous affected child
A child or previous pregnancy in the family with a confirmed genetic diagnosis.
Serious adult-onset condition
When penetrance, age of onset, treatment options and the ethical context have been considered through counselling.
Selected HLA-matching cases
When there is an appropriate medical indication, regulatory basis and genetics-laboratory feasibility.
Is being a carrier alone enough to justify PGT-M?
For an autosomal recessive condition, if only one partner is a carrier, the risk of an affected child is generally very low. The absolute risk reduction from PGT-M may therefore be limited; genetic counselling is recommended.
Preparation before testing
How Is Case-Specific Test Development Prepared Before PGT-M?
The key distinction of PGT-M is the case-specific laboratory work that usually needs to be completed before IVF.
Genetic report review
The variant is documented using the correct gene, transcript and classification.
Family pedigree
At least a three-generation family history and information on affected relatives are recorded.
Relative samples
DNA from an affected child, parent or other relative may be required.
Inheritance analysis
Dominant, recessive, X-linked or mitochondrial risk is clarified.
Test design
A laboratory protocol is established using direct variant testing and linkage markers.
Result plan
Management of affected, carrier, unaffected and no-result embryo categories is discussed.
Step-by-step process
How Is PGT-M Performed?
After case-specific test development is complete, the IVF and embryo-biopsy process begins.
Genetic counselling
The condition, inheritance pattern, recurrence risk and alternatives are discussed.
Variant confirmation
The genetic change to be tested in the family is confirmed.
Test development
The laboratory prepares the case-specific PGT-M method.
IVF / ICSI
Embryos are created using oocytes and sperm.
Blastocyst biopsy
Trophectoderm cells are removed from suitable embryos.
Genetic analysis
The variant and linkage markers are analysed.
Reporting and freezing
Embryos are stored while awaiting results and the reporting categories are explained.
Transfer and pregnancy follow-up
An appropriate embryo is transferred and options for prenatal confirmation are offered during pregnancy.
Timeline
How Long Does the PGT-M Process Take?
The most variable stage is case-specific test development.
File review
Genetic reports and the family pedigree are assessed.
Sample collection
DNA samples from required family members are prepared.
Test development
Depending on the case, this can take several weeks or longer.
IVF stimulation
Approximately 10–14 days before oocyte collection.
Biopsy and analysis
According to the genetics-laboratory schedule after blastocyst development.
FET
If an appropriate embryo is available, transfer takes place in a separate cycle after results.
How many days do I need to stay in Cyprus?
Genetic preparation can be completed remotely. IVF generally requires a visit of approximately 10–14 days; there is usually no need to remain in Cyprus while test development or reporting is pending.
Factors affecting outcomes
What Influences the Chance of Finding an Appropriate Embryo with PGT-M?
Inheritance probability, embryo number and age together influence the outcome.
Inheritance pattern
The probability that an embryo is affected or a carrier differs between dominant, recessive and X-linked inheritance.
Oocyte and blastocyst number
When few embryos are available, no genetically appropriate embryo may be identified.
Female age
Influences embryo development and the simultaneous probability of aneuploidy.
Quality of test development
Informative family samples and linkage markers support test reliability.
Result categories
The policy on transferring a carrier embryo may vary according to the condition and patient preference.
Transfer factors
An embryo not affected by the targeted condition does not guarantee pregnancy or live birth.
Important distinction:
The purpose of PGT-M is to reduce transmission risk for a specific condition. It is not a test designed to increase IVF success in general and does not eliminate genetic or obstetric risks outside the test scope.
Personalised cost planning
PGT-M Costs
PGT-M costs differ from standard panel testing because of case-specific test development and possible family-sample requirements.
Genetic counselling
Assessment of family history, inheritance and result options.
Test development
Variant verification, assay preparation and linkage analysis.
Family samples
DNA collection from required relatives and associated laboratory procedures.
IVF and ICSI
Ovarian stimulation, oocyte collection, fertilisation and culture.
Embryo biopsy and analysis
Case-specific testing of embryos that reach biopsy.
Freezing and transfer
Embryo storage and the subsequent frozen transfer.
Find out what your individual plan may include
Send us the complete genetic report and results from affected family members so that technical feasibility and test-development costs can be clarified before IVF.
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Case-Specific Testing, Linkage Analysis and Identity Safety in PGT-M
For each family, a PGT-M laboratory may establish a controlled method that assesses the variant together with informative DNA markers within the family.
Variant confirmation
The gene, variant and reference sequence are confirmed by the laboratory.
Linkage analysis
DNA markers close to the variant are mapped using family samples.
Contamination control
Methods are used to reduce the effect of DNA not originating from the oocyte or sperm.
Allele-dropout control
Multiple markers are assessed to reduce the risk that one gene copy fails to amplify.
Embryo–tube matching
Each biopsy sample and embryo code are electronically verified.
Report version control
The result, interpretation, revisions and transfer decision are retained within the documented record.
Multidisciplinary approach
PGT-M Treatment, Embryology and Genetics Team
Safely integrating inherited-disease information into an IVF plan requires coordination between clinical, genetics and embryology teams.
Obstetrics, Gynaecology and IVF Specialist
Op. Dr. Beril Yüksel
Plans IVF according to age, ovarian reserve and the goal of obtaining an embryo appropriate for the targeted genetic condition.
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Scientific Director
Prof. Dr. Münevver Serdaroğulları
Coordinates genetic counselling, test development, consent and result management.
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Embryology Laboratory Director
Zafer Atayurt
Manages blastocyst culture, biopsy, freezing and the chain of identity for biopsy samples.
View profile →Medical genetics assessment
Clinical interpretation of genetic risk and test results should involve an appropriately qualified medical geneticist or genetic counsellor. The IVF and embryology team manages integration of testing into reproductive treatment.
Balanced information
What Are the Risks and Limitations of PGT-M?
Although case-specific design aims to improve reliability, zero-error performance cannot be guaranteed.
Technical infeasibility
A reliable test may not be developable for some variants or family structures.
Need for family samples
Lack of an appropriate relative sample may make linkage analysis more difficult.
Incorrect or no-result report
Allele dropout, contamination or insufficient DNA can affect results.
No appropriate embryo
Inheritance probability and a small embryo number may limit transfer options.
Uncertainty in variant interpretation
Clinical benefit may be unclear for a VUS or a condition with reduced penetrance.
Limited test scope
Conditions not tested and newly arising genetic changes are not excluded.
Common questions
Frequently Asked Questions About PGT-M
Answers about test preparation, inheritance and result management for single-gene conditions.
What is PGT-M?
A case-specific embryo test for a confirmed single-gene condition in a family.
For which conditions can PGT-M be used?
Technically, it may be considered for many Mendelian conditions; clinical suitability depends on disease severity, penetrance and a confirmed variant.
Is a genetic report required for PGT-M?
Usually, yes. The variant to be tested should be confirmed in a reliable molecular genetic report.
Why is PGT-M prepared specifically for each family?
Each family’s variant, inheritance pattern and informative DNA markers are different.
How long does PGT-M preparation take?
Depending on the case, laboratory and required family samples, it may take several weeks or longer.
Can PGT-M identify carrier embryos?
In many cases, affected, unaffected and carrier categories can be distinguished; reporting depends on the test design.
Can a carrier embryo be transferred?
This is considered during genetic counselling according to the inheritance pattern, potential health effects for a carrier, availability of other embryos and patient preferences.
Can PGT-M be performed for a VUS?
A variant of uncertain significance may not cause disease; laboratories have different policies and detailed assessment is required.
Is prenatal testing needed after PGT-M?
Because of technical limitations, confirmation with CVS or amniocentesis should be offered during pregnancy.
Can PGT-M and PGT-A be performed together?
In some laboratories they can be performed from the same biopsy sample; potential additional benefit, embryo number and cost should be assessed during counselling.
Does PGT-M guarantee a healthy baby?
No. It provides information only about the targeted genetic risk.
How many embryos are needed for PGT-M?
There is no fixed number; inheritance probability, age and blastocyst development influence the chance of finding an appropriate embryo.
How long do I need to stay in Cyprus for PGT-M?
Test development can be completed remotely; IVF generally requires approximately 10–14 days, with a separate short visit planned for transfer.
Why does the cost of PGT-M vary?
Cost depends on test development, family samples, embryo number, IVF, biopsy and freezing components.