On this page:

Current services and Target Reporting Times

Click the links to view OMIM information for specific diseases.

Click to view the Disease Information Sheet where available

  • Provider-to-provider price list
  • Private patient price list

Private Patients and Overseas referrals

Due to the large number of outstanding invoices for private patients and overseas referrals, the Genetics laboratory is to change the way in which it collects payment for these tests. As of the 1st December 2016, the laboratory will require payment for all private patient and overseas referrals prior to issuing a report. Due to the nature of the samples received, the laboratory will process the sample to a stage at which it can be held. The laboratory will then store the sample until payment has been received, at which point it will continue with the applicable test(s) and issue a report.

If it is a private patient referral and the patient themselves is to pay for the test, please ensure that their full contact details are provided on the referral form, and that they have completed an ‘Undertaking to pay’ form. The form is available here. When we receive the test request, a member of our admin team will then contact the patient and inform them how to contact the Private Patients office with regards to payment for the test. Payment by credit card is the preferred method, which can be done over the telephone.

For overseas referrals, please ensure that full contact details are provided for the Finance office responsible for payment, so that they may be contacted by a member of our admin team to initiate payment. Since this is a change in the way these tests are invoiced, please also ensure that they are aware of this policy and are able to facilitate payment up front for the test since patient reports will not be issued unless payment has been received.

Any queries regarding reporting times or requests for urgent analysis should be made to the Laboratory by telephone (020 8725 5332) or by email (swtrgl@stgeorges.nhs.uk).

1p19q gliomas Acrobat gif

(Urgent: Contact Lab, Routine: 2 weeks)

Angelman Syndrome (15q11-q13) Acrobat gif

(Urgent: Contact Lab, Routine: 4 weeks)

Beckwith-Wiedemann Syndrome (11p15) Acrobat gif

(Urgent: Contact Lab, Routine: 4 weeks)

Breast/Ovarian Cancer (BRCA1 & BRCA2) Acrobat gif

(Urgent: Contact Lab, Routine: 4-8 weeks1 / 2-4 weeks2)

CADASIL (NOTCH3) Acrobat gif

(Urgent: Contact Lab, Routine: 8 weeks1 / 2-4 weeks2)

Fragile X Syndrome (FRAXA) Acrobat gif

(Urgent: 3-14 days, Routine 4 weeks)

Glioblastoma MGMT methylation Acrobat gif

(Urgent: Contact Lab, Routine: 2 weeks)

Hemihypertrophy / Growth Asymmetry (11p15) Acrobat gif

(Urgent: Contact Lab, Routine: 4 weeks)

Hennekam syndrome Acrobat gif

(Urgent: Contact Lab, Routine: 8 weeks1 / 4 weeks2)

Huntington Disease (IT15/HTT) Acrobat gif

(Urgent: Contact Lab, Routine 4 weeks)

IMAGe syndrome (11p15) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 4 weeks)

Incontinentia Pigmenti (IKBKG) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine 4 weeks)

Li-Fraumeni Syndrome (TP53) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 8 weeks1 / 2-4 weeks2)

Lymphoedema Distichiasis (FOXC2) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 8 weeks1 / 2-4 weeks2)

Marfan Syndrome (FBN1) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 8 weeks1 / 2-4 weeks2)

Milroy Disease/Congentital Lymphoedema (VEGFR3) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 8 weeks1 / 2-4 weeks2)

Myotonic Dystrophy Type 1 (DMPK) Requires Adobe Acrobat Reader

(Urgent: 3-14 days, Routine: 4 weeks)

Myotonic Dystrophy Type 2/PROMM (CNBP) Requires Adobe Acrobat Reader

(Urgent: 3-14 days, Routine: 4 weeks)

Noonan spectrum disorders / Rasopathies – NEW NGS SERVICE AS OF APRIL 2015 Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 16 weeks1 / 2-4 weeks2)

Overgrowth NGS Panel – NEW NGS SERVICE AS OF FEBRUARY 2017 Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 16 weeks1 / 2-4 weeks2)

Prader Willi Syndrome (15q11-q13) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 4 weeks)

Prenatal Exomphalos (11p15) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 4 weeks)

Sexing (SRY)

(Urgent: 3-7 days, Routine: 4 weeks)

Silver-Russell Syndrome (11p15) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 4 weeks)

Uni-Parental Disomy of chromosome 14 Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 4 weeks)

Wilms Tumour (11p15) Requires Adobe Acrobat Reader

(Urgent: Contact Lab, Routine: 4 weeks)

Y-chromosome deletions

(Urgent: Contact Lab, Routine: 4 weeks)

Zygosity

(Urgent: 3-7 days, Routine: 4 weeks)

1 Screen

2 Familial Mutation Test

* Predictive testing for Long QT syndrome families is available

where a mutation has already been identified in our research

laboratory

External Testing

Exchange of samples for testing of certain conditions is arranged through the South East England Genetics Consortium (SEEGEN). The following diseases are exported from St. George’s to other laboratories as shown:

South East Thames Genetics Service DNA Laboratory
Genetics Centre, 5th Floor Guy’s Tower, Guy’s Hospital, London, SE1 9RT. Tel: 020 7188 2582.

  • Duchenne/ Becker Muscular Dystrophies (DMD/BMD)
  • Spinal Muscular Atrophy (SMA)
  • Other specialised services

North East Thames Regional Molecular Genetics Laboratory
Level 6, York House, 37 Queen Square, London, WC1N 3BH, Tel: 020 7762 6888.

  • Deafness (connexin 26)
  • Achondroplasia /hypochondroplasia
  • Other specialised services

North West Thames Genetics Service DNA Laboratory
Kennedy Galton Centre, Level 8V, Northwick Park & St Mark’s Hospitals, Watford Road, Harrow, HA1 3UJ. Tel: 020 8869 3168.

  • Cystic fibrosis
  • Haemochromatosis
  • Some bowel cancers

Other samples referred for a service not available at St George’s or one of the SEEGEN laboratories are banked and an aliquot of DNA sent off to an appropriate diagnostic laboratory for analysis.

Prenatal diagnosis

Prenatal diagnosis can generally be carried out on a chorionic villus sample (CVS) at 11 weeks of pregnancy or an amniocentesis sample taken later in pregnancy. Appropriate family members should already be tested and worked up before pregnancy to ensure that an accurate and informative test is available for the family.

NOTE: A maternal sample is required with every CVS or amniocentesis.

Please contact the laboratory regarding prenatal testing before arrange sample collection.

DNA banking

DNA storage in the DNA bank at St George’s is possible for samples where testing is currently unavailable but may be possible at a later date. All samples received for testing are also banked and stored unless requested otherwise.