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:
|
Sample Type/Test |
Reporting time 90th percentile |
Target Days Calendar |
|---|---|---|
|
Rapid Prenatal Aneuploidy testing and Prenatal single gene tests (3 CAL) |
5 |
3 |
|
Prenatal Chromosomes and Urgent Micro Array Testing (14 CAL) |
15 |
14 |
|
Urgent Postnatal Chromosomes (10 CAL) |
17 |
10 |
|
Routine Postnatal Chromosomes and Micro Arrays (28 CAL) |
63 |
28 |
|
Urgent Haemato-Oncology genetic testing (CAL 14) |
18 |
14 |
|
Routine Haemato-Oncology testing (CAL 21) |
54 |
21 |
|
Urgent Molecular Genetic testing of familial or limited mutations (CAL 14) |
22 |
14 |
|
Routine Molecular Genetic testing of familial or limited mutations (CAL 28) |
38 |
28 |
|
Molecular Genetic screening for unknown mutations in 1 to 10 genes (CAL 56) |
70 |
56 |
|
Molecular Genetic screening for unknown mutations in panels of more than 10 genes (CAL 112) |
162 |
112 |
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
| 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
| 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
| 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). |