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

Referrals

Making a referral

We accept referrals from clinical genetics services across the UK.

How to refer

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

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

(DOC 175.00KB)

If your couple wish to consider PGT-M/SR with Human Leukocyte Antigen (HLA) matching, please let us know and we'll send you additional information.

Please email or post your referral form 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 short wait (under 2 months) for an initial appointment with our PGT-M/SR genetics team to discuss the process and to create a plan for the couple.

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're offered up to 3 cycles of PGT-M/SR on the NHS. This funding stops if they have a healthy child, 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)
  • couples must not already have an unaffected child together
  • couples must have been in relationship for a year
  • couples must live at the same address
  • couples must have had genetic counselling locally
  • testing must have taken place an 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 also require that the molecular diagnosis be confirmed in a UKAS-accredited NHS laboratory.

If your 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.

(DOC 175.00KB)

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.

Last updated: June 2022

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