Molecular Genetics services

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

For a list of common referral types for the Regional Cytogenetics and Molecular Genetics Laboratories, please click here.

 

General reporting time guidelines*

  • Predictive testing for known familial mutations - 14 calendar days
  • Urgent testing affecting the outcome of a pregnancy, including prenatal diagnosis (PND) - 3 calendar days.
    Please contact the laboratory when sending samples for urgent testing to discuss reporting times.
  • Routine testing - 42-84 calendar days depending on the nature of the test and disorder (see below and disease-specific guidelines for further information).
  • Details of target reporting times for the NHS England Genomic Medicine service are shown here: GLH reporting time targets.pdf

* There are some exceptions to these guidelines. For further information see below for the specific guidelines for each disorder.

 

Service

Reporting time guidelines in
Calendar days (Diagnostic tests)
Angelman syndrome (AS) and Prader-Willi syndrome (PWS).pdf 42
Charcot Marie Tooth 1A.pdf 42
Charcot Marie Tooth 1X - Cx32_GJB1.pdf 42
Cystic Fibrosis.pdf 42
Becker Muscular Dystrophy (BMD_DMD.pdf 42
Duane-Radial Ray Syndrome (SALL4).pdf 42
Duchenne Muscular Dystrophy (DMD_BMD).pdf 42
Familial Adenomatous Polyposis (FAP).pdf 42
Fragile X Syndrome.pdf 42
Fragile X-Associated Tremor and Ataxia Syndrome Syndrome.pdf 42
Hereditary Breast and Ovarian Cancer (BRCA1 - BRCA2).pdf 42
Hereditary Haemochromatosis.pdf 42
Hereditary Neuropathy with liability to pressure palsies.pdf 42
Hereditary Non-Polyposis Colorectal Cancer (HNPCC), Lynch syndrome (MLH1, MSH2, MSH6, PMS2).pdf 42
Hereditary Sensory and Motor Neuropathy Type 1A (CMT1A).pdf 42
Holt Oram syndrome (TBX5).pdf 42
Huntington disease.pdf 42
Idiopathic Congenital Nystagmus (FRMD7).pdf 42
Leber Hereditary Optic Neuropathy.pdf 42
Microsatellite instability (MSI) testing.pdf 42-84
Myotonic dystrophy type 1 (DM1).pdf 42
Okihiro syndrome - Duane-Radial Ray Syndrome - Acro-Renal-Ocular syndrome (SALL4).pdf 42
Polycystic Kidney Disease (Autosomal dominant).pdf 42
Prader-Willi syndrome (PWS).pdf 42
 
Rapid Aneuploidy Screening of amniotic fluid samples by QF-PCR.pdf 3
Rett syndrome.pdf 42
Spinal Muscular Atrophy.pdf 42
Townes-Brocks Syndrome (SALL1).pdf 42
Uniparental Disomy for Chromosome 14 (UPD14).pdf 42
Uniparental Disomy for Chromosome 15 (UPD15).pdf 42
Uniparental Disomy for Chromosome 7 (UPD7).pdf 42

 

 

 

 

 

Next Generation Sequencing (NGS) Panel Tests

In  addition to the list of tests above, a selection of next-generation sequencing (NGS) panel tests are available in this laboratory, including the following panels below. Please note these type of referrals may only be accepted from particular types of specialist referrers (e.g. Clinical Genetics or other agreed specialist referrers). The target turnaround time for this type of testing is 42 days for small panels, and 84 genes for larger panels (more than 10 genes).

 

Other tests available

The laboratory is part of the integrated ‘East Midlands and East of England Genomics Laboratory’ (EMEE) service and is therefore responsible for delivery of the genomic tests defined in the new National Genomic Test Directories. Tests not available locally will be delivered either at the EMEE laboratory hub at Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (link to current website here) or at an appropriate external laboratory.

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 labs. However, at the current time the payment for these tests is the responsibility of the referring clinician. For all outsourced samples, the laboratory will assume that the referring clinician has taken responsibility for the cost of these tests by completion of the referral card, and we will send the DNA for testing without prior confirmation with the clinician (unless referred from a GP). Please contact the laboratory to discuss the availability of testing or if you require further information.

 

Page last updated 02/10/2019. Please note that if printed, this information is only valid on the day of printing.