Pathology Clinical Services Unit
Leeds Genetics Laboratory
St. James’s University Hospital
Beckett Street
Leeds
LS9 7TF
1/7/15
Fragile X enquiries to: (0113) 206 5205
Array CGH enquiries to: (0113) 206 5419
Dear Colleague,
I am writing to notify you to two important changes to our service:
1) A change in our clinical genetics referral acceptance guideline
Previously our policy was that if a patient has had a karyotype they are only eligible for the microarray test (array CGH) if they
are seen by the genetics department first. This policy has now changed and array CGH is open access for any patient if
indicated. You can now request an array on a patient who has had a karyotype.
In addition, from 1st September 2015, we are changing our criteria for accepting referrals to the clinical genetics service. All
patients who are eligible for array CGH need to have had this test completed before we can accept your referral to
Clinical Genetics.
Eligibility criteria include:

Patients presenting with unexplained learning difficulties / developmental delay / behavioural problems (including
autism)

Patients with dysmorphism / multiple congenital abnormalities suggestive of a chromosome abnormality.
The completed array CGH test result should be attached to your referral.
Urgent referrals are exempt from this policy. You are welcome to contact us about individual cases if you or the patient is
unsure about the necessity of an array CGH test.
2)
A change in our Genetics Laboratory Fragile X testing acceptance Policy
Every year, the genetics laboratories receive a large number of test requests directly from paediatricians for Fragile X
syndrome in children with learning difficulties. The detection rate for a positive result on Fragile X testing is less than 1%. This
low detection rate is partly a consequence of testing children who do not appear to comply with the nationally approved
testing criteria for Fragile X. NHS England has charged us with ensuring that inappropriate testing is minimised to enable
funds to be released to help develop other genetic tests that will be of benefit to families.
From 1st August 2015:
• All routine requests for both array CGH and Fragile X will be tested by array CGH in the first instance.
• If the array CGH test does not show a clinically significant finding you will need to consider if your patient fulfils the UKGTN
testing criteria for Fragile X testing (see below)
• If you think Fragile X testing is still indicated please send the Genetics Laboratory a second genetic request form.
• Please note there is no need for a second DNA sample on the patient or to send a completed UKGTN form.
• This policy is being implemented across many genetic services in the UK.
Chairman Linda Pollard CBE JP PL
Chief Executive Julian Hartley
The Leeds Teaching Hospitals incorporating: Chapel Allerton Hospital Leeds Chest Clinic Leeds Dental Institute
Seacroft Hospital St James’s University Hospital The General Infirmary at Leeds Wharfedale Hospital
We would be grateful if you could bring these new policies to the attention of your teams and in particular to your junior
colleagues.
We trust this information will be helpful. If you have any queries please do not hesitate to contact us:
Molecular Lab
leedsth-tr.dna@nhs.net
0113 2065205
Clinical Genetics Department
leedsth-tr.ClinicalGeneticsLeeds@nhs.net
0113 3924432 (please ask for the consultant on call)
Cytogenetic Lab
leedsth-tr.Cytogenetics@nhs.net
0113 2065419
Yours sincerely
Dr Angus Dobbie
Consultant in Clinical Genetics and Head of Service
Yorkshire Regional Genetics Service
UK GTN approved testing criteria for fragile X: Male
Chairman Linda Pollard CBE JP PL
Chief Executive Julian Hartley
The Leeds Teaching Hospitals incorporating: Chapel Allerton Hospital Leeds Chest Clinic Leeds Dental Institute
Seacroft Hospital St James’s University Hospital The General Infirmary at Leeds Wharfedale Hospital
UK GTN approved testing criteria for fragile X: Female
Chairman Linda Pollard CBE JP PL
Chief Executive Julian Hartley
The Leeds Teaching Hospitals incorporating: Chapel Allerton Hospital Leeds Chest Clinic Leeds Dental Institute
Seacroft Hospital St James’s University Hospital The General Infirmary at Leeds Wharfedale Hospital