Pre-implantation genetic diagnosis (PGT-M/SR)

Making a referral

We accept referrals from clinical genetics services across the UK.

Please send your referral by email. We no longer accept referrals by post.

How to refer

All couples must be seen by their local clinical genetics service before coming to us.

All PGT referrals must include an up-to-date variant review through your local laboratory for all genetic reports authorised before June 2024. You can provide this information by an updated genetic report or written (including email) correspondence with the laboratory scientists. 

Referrals received from 18 November 2024 without this information will be rejected.

These new referral requirements will not apply to:

• well-recognised common variants, such as cystic fibrosis (CF) variants included in the Elucigene kit including p.(Phe508del), sickle cell anaemi, SMA deletions, or
• variants which are not missense mutations, such as triplet repeat expansions and truncating variants 

If you have queries about your case, please check with your own GLH or the reporting laboratory.

Referral forms

If you would like to refer a couple, please complete the PGT-M/SR referral form for monogenic or chromosomal conditions only.

If your female patient is affected by vascular Ehlers-Danlos Syndrome (vEDS), please also complete the vEDS referral form.

Please email your referral form(s) to us with the following information:

• the names and dates of birth of both partners (or indication that the patient is seeking gamete donation)
• relevant molecular or cytogenic reports, which have been performed in an accredited laboratory
• a brief reproductive history
• relevant clinical details if one of the partners is affected by the genetic condition, or any medical condition
• body-mass index (height and weight) of the female partner

We usually need DNA samples from the couple and other family members. If you don't think such DNA samples would be available, please contact us to discuss this before referring the couple.

If any of the requested information is missing, this can significantly delay the referral.

In general, there is a wait (around 4 months) for an initial appointment with our PGT-M/SR genetics team.

Please make your patient aware that PGT-M/SR is a lengthy process.

Referral criteria

PGT-M/SR is funded by the NHS for people living in England. This is different to IVF which is often funded regionally. 

For people living in Scotland, Wales and Northern Ireland, funding needs to be applied for. This is something that our PGT-M/SR service, as well as your genetics centre, can arrange.

If couples fit the criteria below, they can be offered up to 3 cycles of PGT-M/SR on the NHS. Please note, this funding currently stops if:

• they have a healthy child together
• are not responding to the treatment, or
• no longer fit the eligibility criteria

Funding criteria:

• at least a 10% risk of having a child with a serious genetic condition (for chromosomal rearrangements, this includes the risk of miscarriage due to an unbalanced translocation)
• treatment must start before the women is 40*
• women must have a body mass index (BMI) of more than 19, and less than 30
• both partners must be non-smokers (including e-cigarettes and vaping)
• couples must not already have an unaffected child together
• couples must have been in a stable relationship for at least 1 year
• couples must currently live at the same address
• couples must have had genetic counselling locally through their local genetics service
• testing must have taken place a UKAS-accredited laboratory

*Our service defines active treatment as hormonal medication. Unfortunately we're unable to accept referrals for women over the age of 39 and 6 months. For women between the ages of 39 and 39 and 6 months, we'll need to consider their requirements on a case-by-case basis.

We require that all genetic variants have been classified or reassessed using the new June 2024 ACGS best practice guidelines for variant classification.

If your patient or couple does not meet the above criteria but you still believe they should be considered for funding due to exceptional circumstances, please contact us to discuss.

DNA and blood samples

The types of samples we need depends on the family structure and inheritance pattern of the condition.

For most chromosomal rearrangements (translocations), we do not need any DNA samples from family members.

We will ask the patient's parents to have genetic testing for the pathogenic variant in the couple. We will do this even if it appears the condition was de novo.

Usually this takes place through their local clinical genetics service. This is in case any more investigations are needed after the genetic test result.

If you believe obtaining DNA samples from family members will be difficult for your patient, you can:

• discuss this with us before referring, or
• include this information with your referral

Exclusion PGT-M/SR

We consider requests for exclusion PGT-M/SR.

We can discuss PGT-M/SR for patients at 50% risk of certain genetic conditions, including Huntington's disease.

We encourage couples to consider all reproductive options available to them with their local clinical genetics service before referral for PGT-M/SR.

Pre-implantation genetic testing for aneuploidy

We do not offer pre-implantation genetic testing for aneuploidy (PGT-A), which was previously known as preimplantation genetic screening.

Embryos created at another centre

We can genetically test previously created embryos depending on:

• how they're stored
• at what stage they were stored
• where they're located

The cost of transport of the embryos is not covered by the NHS and is paid for by the couple.

Self-funding referrals

For self-funded care, the person or couple must be eligible for NHS treatment, but might not meet the specific funding criteria for PGT-M/SR. There is no fee for the initial appointment with genetics, but payment is required before treatment starts.

Please refer your patient using our PGT-M/SR referral form, but clearly state that they're interested in self-funding.

Patients must meet these criteria to be suitable for self-funded PGT-M/SR:

• at least a 10% risk of having a child with a serious genetic condition (for chromosomal rearrangements PGT-M/SR, this includes the risk of miscarriage due to unbalanced translocations)
• treatment must start before the woman is 42 and have sufficient hormone levels (this will be discussed individually)
• women must have a body mass index (BMI) of more than 19 and less than 32
• both partners must be non-smokers (including e-cigarettes)
• couples must have had genetic counselling locally
• couples must have been in relationship for a year
• couples must live at the same address

We also require that the molecular diagnosis be confirmed in a UKAS-accredited NHS laboratory.

PGT with human leukocyte antigen (HLA) matching referrals

PGT with human leukocyte antigen (HLA) matching, is a technique which allows for the selection of embryos in order to bring about the birth of a child who can provide a matched tissue donation to an existing sibling.

HLA-PGT treatment is not currently funded by the NHS. All HLA-PGT referrals will require the submission of an application to the HFEA.

If you would like to make a referral for a patient for PGT-HLA, please refer your patient using our PGT-M/SR referral form and HLA referral form.

Referrals must include:

• letter of support for HLA PGT from the affected sibling’s specialist physician
• copy of family tree
• relevant molecular or cytogenetic laboratory reports

We will not be able to accept your referral if the referral forms are incomplete or any of the required supporting documentation is missing.