Basic Information about Clinical Genetics

The North of Scotland Clinical Genetics Service is based at Ashgrove House, ARI and at Raigmore Hospital, Inverness. We also hold outreach clinics in Orkney and Shetland. We cover Grampian, Highland, Orkney, Shetland, and the northern half of the Western Isles. An important part of our work is education, teaching, and research.

Who should I refer?

Please use Grampian Guidance (network access only) to seek further advice about a particular case if you are unsure whether to refer or not.

Which patients are unlikely to benefit from a referral to Clinical Genetics?

In line with UK guidance, we are only able to accept referrals where our expertise is needed. Inappropriate referrals, such as those below, are likely to be rejected.

• Requests for diagnostic genetic testing that is available to the referring team or to another specialist involved with the patient’s care.
  
  
• Pharmacogenomic testing or interpretation of a pharmacogenomic results.
  
  
• Interpretation of a genetic test result generated by an unaccredited laboratory (commonly from direct to consumer testing). However, we will accept referrals where a likely pathogenic or pathogenic variant has been identified in a gene that we would usually offer a test for (such as BRCA1).
  
  
• Individuals with suspected hypermobility spectrum disorder or hypermobile Ehlers-Danlos syndrome. Referral guidance is available on Grampian Guidance (network access only).
  
  
• Testing for common recessive conditions (alpha-1-antitrypsin deficiency, Cystic Fibrosis, haemoglobinopathies, and hereditary haemochromatosis) can be arranged by Primary Care, without the need for a referral or appointment in Clinical Genetics. Referral guidance is available on Grampian Guidance (network access only).
  
  
• Thrombophilias and bleeding disorders. These are managed by Haematology, who can advise on investigation. Clinical Genetics will accept referrals to discuss prenatal diagnosis in severe disorders.
  
  
• Where a diagnosis of familial hypercholesterolaemia (FH) is suspected using the Simon Broome or Welsh criteria. Patients should be referred in the first instance to the lipid clinic (for NHS Grampian and NHS Highland patients only) for diagnostic assessment and genetic testing. NHS Shetland and NHS Orkney patients can be referred to the Genetic Clinic for diagnostic testing given there is no lipid clinic provision in these boards. Though there is no lipid clinic in NHS Western Isles, the Cardiac Nurses are able to arrange diagnostic testing. Relatives of those found to have an FH gene mutation should be referred to Clinical Genetics for predictive testing.
  
  
• Autistic Spectrum Conditions:
  
  Patients with Autistic Spectrum Conditions should only be referred if there are additional features such as dysmorphology, microcephaly, congenital anomalies, severe epilepsy or moderate to profound developmental delay/intellectual disability. Autistic Spectrum Conditions run in families but do not follow Mendelian inheritance patterns. Studies (for example https://pubmed.ncbi.nlm.nih.gov/39011552/ ; https://pubmed.ncbi.nlm.nih.gov/24794370/) suggest sibling recurrence risks of approximately 10 times the population risk. Risks are higher in boys, and when the affected individual is female (https://pmc.ncbi.nlm.nih.gov/articles/PMC4429923/).
  
  There are some fairly common conditions that can cause autistic features and should be ruled out. Clinical examination would detect features of Neurofibromatosis type 1 or Tuberous Sclerosis. Chromosome array (see ‘How do I request a genetic test?’ below) may detect a causative change or a risk factor, and can be organised by the treating team. In boys with significant developmental delay/intellectual disability, Fragile X testing is also appropriate. These are the only genetic tests available for isolated Autistic Spectrum Conditions. If there is also developmental delay/intellectual disability or epilepsy, metabolic guidelines may guide additional testing.

• Other neurodiversity conditions such as ADHD and dyslexia. Again, these tend to run in families but inheritance is not understood. There is no genetic testing for these conditions in the absence of other features such as dysmorphology or congenital anomalies.
  
  
• Mild developmental delay/learning difficulties:
  
  Mild developmental delay and/or learning difficulties have a tendency to run in families, sometimes in association with neurodiversity. Chromosome array (see ‘How do I request a genetic test?’ below) may detect a causative change or a risk factor, and can be organised by the treating team. In the absence of additional features such as dysmorphology or congenital anomalies, no additional genetic testing is available. Metabolic guidelines may guide additional testing.

How to make a referral to Clinical Genetics?

• Sci gateway
• Letter or email
• Self-referral if family already seen for the same condition

For any referral relating to a family member that is already known to our (or another Genetics) service, please include details of that family member (name, DOB, Genetics service and genetics reference number if known). This information is essential for our triage.

How do I request a genetic test?

Test requirements can be found on the Scottish Genomic Test Directory. Further information about sample requirements can be found on the NHS Grampian Laboratory Genetics website. The Genetic test request form and consent form are available on the same page. (Requests for genetic testing cannot yet be completed through TrakCare.)

Where can you find us?

Our main clinical base is at:

Clinical Genetics Centre
Ground Floor
Ashgrove House
Foresterhill
Aberdeen
AB25 2ZA

We also have a genetic base at:

Department of Clinical Genetics
Recreation Hall
Zone 11
Raigmore Hospital
Old Perth Rd.
Inverness
IV2 3UJ

How to contact us?

For Grampian, Orkney, or Shetland enquiries:
Email: gram.clinicalgenetics@nhs.scot 
Telephone: 01224 552120

For Highland and Western Isles enquiries:
Email: nhsh.clinicalgenetics@nhs.scot 
Telephone: 01463 705823 or 01463 888216

 

Published: 20/06/2025 10:53