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.

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 Clinical Genetics Department

0113 2065205 0113 3924432 (please ask for the consultant on call)

Cytogenetic Lab

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

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