Genetics laboratory services

Opening hours, sample requirements and reporting time guidelines 

The laboratory is open from 7am – 6pm Monday to Friday and 9am – 1pm on Saturday.
Usual office hours for telephone enquiries are 9am – 5pm, Monday – Friday. An answer phone operates outside these times. Please contact us on 0121 335 8036.

For information on sample handling and storage, packaging, transport requirements and consent, please open the attached policy: Labelling and transporting of laboratory specimens 

Consent

All genetic testing requires consent. The laboratory assumes that provision of a clinical sample, and a completed referral form, implies that consent has been obtained by the referring clinician. This also includes consent for DNA storage where appropriate, including storage of DNA from patients where no genetic test is currently available/required, unless the referral form specifically indicates that this consent has not been given.

Reporting times

Whilst the department aims to report all cases within a suitable time-frame there are occasions where complex working patterns and findings may result in extended reporting time-frames.  The current  (12/01/2018)  reporting times are as follows:

 

Reporting times

Clinical Urgency

Category (mapping to test directory)

Sub-categories

Examples

Reporting times, Calendar days

 

 

 

 

95th percentile

Target

URGENT

Ultra Rapid

N/A

QF-PCR for rapid trisomy detection

6

3

 

 

Urgent haemato-oncology FISH/RT-PCR

 

 

PCR-based tests where the result is needed urgently for prenatal diagnosis

URGENT

Ultra rapid

NA

NIPT

13

7

URGENT

Rapid

Rapid

Microarray for prenatal / urgent postnatal (e.g. neonatal referrals)

22

14

 

 

Urgent Haemato-oncology karyotyping

 

 

Mutation specific molecular pathology tests

 

 

Southern blot tests where the result is needed urgently for prenatal diagnosis

 

 

PCR-based tests for predictive testing and confirmation of neonatal results

 

 

Complex rapid

Urgent panels and exomes for relevant indications

43

21

 

 

NIPD

NON-URGENT

Standard

Somatic Cancer

Standard HO karyotyping (e.g. MDS)

63

21

 

 

NGS panels for HO referrals

 

 

NGS panels for molecular  pathology referrals

 

 

Rare Disease

Standard paediatric microarray Standard single gene and small gene panel (<10 gene) sequencing

75

42 days (6 weeks)

Known familial mutation testing Standard STR based analysis Postnatal karyotyping (e.g. fertility or familial microarray follow-up)

NON-URGENT

Complex Standard

Rare Disease

Large gene-panels (>10 genes) or WES for standard referral indications

Data not yet available

84 days (12 weeks)

 

 

Expectation for delivery of centralised WGS (from DNA sample receipt to return of vcf and/or filtered variants to GLH)

Not currently active

Part a) 42 days (6 weeks)

 

 

Validation/reporting of centralised WGS results after receipt at GLH

Not currently active

Part b) 42 days (6 weeks)

 

Prenatal samples

Prenatal samples
Sample Type Gestation (weeks) Sample requirements Comments
Chorionic villus 11+ 10 – 30 mg(in sterile transport medium – obtained from the laboratory)  
Fetal blood 18-20+ Available at Department of Fetal Medicine, BWH  
Amniotic fluid 13+ 10 – 20 ml (of which 1-2ml is required for QF-PCR)  
    Full karyotyping10-21 days  Will not necessarily detect subtle chromosome abnormalities


Postnatal samples

Postnatal samples
Sample Type Sample requirements Comments
Blood Chromosome analysis only:
Paediatric samples – 0.5 – 2ml in lithium heparin (orange or green)
Adult samples – 5 ml in lithium heparin (orange or greenChromosome analysis and molecular studies: As above, with samples in lithium heparin and EDTA if possible.
Urgent samples are designated by reason for referral and patient age.Contact lab for current reporting times for non- urgent samples.
Solid tissue   See Guidelines for Cytogenetic Analysis on Solid Tissue Samples
Contact laboratory for further information


Oncology referrals

Oncology referrals
Sample Type Sample requirements Comments
Bone marrow Cytogenetics and FISH: 0.5 – 2 ml in lithium heparin.Molecular studies including RT-PCR, RQ-PCR and chimaerism analysis by microsatellites following sex-matched SCT: 2 ml in EDTA.Samples requiring RNA extraction must reach the laboratory within 48 hours. Urgent samples are designated by reason for referral.Contact the laboratory for current reporting times for non- urgent samples.
Blood Cytogenetics and FISH: 5 – 10 ml in lithium heparinMolecular studies including RT-PCR, RQ-PCR and chimaerism analysis by microsatellites following sex-matched SCT:
5 – 10 ml in EDTA.Samples requiring RNA extraction must reach the laboratory within 48 hours.
As above
Solid tumours & lymph nodes In sterile tissue culture media (available from the laboratory) Contact the laboratory for further information.


Molecular referrals

Molecular referrals
Sample Type Sample requirements Comments
Blood Adults 5 – 10 ml in EDTA (pink / purple)
Children/babies 2 – 5 ml in EDTA (pink / purple)Samples requiring RNA extraction must reach the laboratory within 48 hours.
Urgent samples are designated by reason for referral.Contact the laboratory for current reporting times for non- urgent samples.
Other Contact laboratory As above
Prenatal testing   Patients for prenatal testing requiring molecular genetic investigations should be referred via the Clinical Genetics department at the Birmingham Women’s Hospital, for further information, please contact the laboratory or Clinical Genetics (0121 335 8024).