Molecular Genetics services

The National Genomics Test Directory  for Rare and Inherited Disease includes a portfolio of genomic tests organised in Core and Specialist Service groups/referral pathways, to allow the identification of the most appropriate test for each clinical indication. The laboratory is part of the integrated ‘East Genomics’ Laboratory service and is therefore responsible for delivery of the genomic tests defined in the National Genomics Test Directory. Tests not available locally will be delivered either at the East Genomics laboratory hub at Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (link to current website here) or at an appropriate specialist external laboratory.

The rare and inherited diseases eligibility criteria document supplements the National Genomic Test Directory by setting out which patients should be considered for testing under that indication, and the requesting specialties is a list of the clinical specialties who would be expected to request the test.

Please note that a sample of blood in EDTA is required for Molecular Genetic testing. DNA will be extracted and stored from all samples received according to current RCPath guidelines on sample retention, unless we are specifically asked to dispose of the DNA sample following testing.

General reporting time guidelines*

  • Urgent prenatal diagnosis (PND) for PCR based tests - 3 calendar days.
  • Other urgent testing, including prenatal diagnosis (PND) - up to 14 calendar days. The laboratory will aim to issue reports as soon as possible based on patient safety and risk. Please contact the laboratory when sending samples for urgent testing to discuss reporting times.
  • Predictive testing of unaffected individuals for known familial variants - 14 calendar days
  • Routine testing - 42 calendar days 
  • Details of target reporting times for the NHS England Genomic Medicine service are shown here: GLH reporting time targets

*There are some exceptions to these guidelines which can be discussed with the laboratory

The most common Core clinical indications tested in the NUH Molecular Genetics Laboratory are listed below

Core Clinical indications tested in the NUH Molecular Genetics Laboratory

  • R47 Angelman syndrome (AS)
  • R77 Charcot-Marie-Tooth (CMT) type 1A and Hereditary Neuropathy with liability to pressure palsies (HNPP) (PMP22 duplications and deletions)
  • R184 Cystic fibrosis testing (CF, CFTR gene)
  • R185 Cystic fibrosis carrier testing
  • R346 DNA Storage
  • R73 Duchenne/Becker Muscular Dystrophy (DMD/BMD, Xp21 dystrophinopathy
  • R402.2 FMR1-associated Premature ovarian Failure (POF)/ Primary ovarian insufficiency (POI)
  • R95 Hereditary Haemochromatosis (HFE)
  • R68 Huntington disease
  • R72 Myotonic dystrophy type 1 (DMPK)
  • R48 Prader-Willi syndrome (PWS)
  • R70 Spinal Muscular Atrophy (SMA, SMN1 gene)
  • R252 SMA carrier testing for partners of known carriers (SMN1)
  • R401.1, R22.1, R21.1 Prenatal rapid aneuploidy testing by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR)

Inherited Cancer Core Testing offered in the NUH Molecular Genetics Laboratory

  • R207 Ovarian Cancer
  • R208 Inherited breast and ovarian cancer
  • R210 Inherited mismatch repair (MMR) deficiency (Lynch syndrome)
  • R211 Polyposis and early onset colorectal cancer
  • R414 APC-associated polyposis
  • R430 Inherited prostate cancer
  • R444.1 Testing to check for eligibility for NICE approved PARP inhibitor treatment – breast cancer
  • R444.2 Testing to check for eligibility for NICE approved PARP inhibitor treatment – prostate cancer

Other tests available

The laboratory also analyses and reports the results of whole genome sequencing (WGS) for several Core and Neurology indications, for example R27.3, R29.4 core indications and R56.3, R57.5, R58.4 and R59.3 Neurology indications (N.B. this list is not exhaustive).

Other tests, including research tests, may also be available at other laboratories, both in the UK and abroad. Blood samples for this purpose can be sent to this laboratory for DNA extraction and outsourcing to other laboratories. Please contact this laboratory to discuss the availability of testing or if you require further information.

Page last updated 25/02/2025. Please note that if printed, this information is only valid on the day of printing.