Genetic laboratory services

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 (15/01/2020) 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	7	3
			Urgent haemato-oncology FISH/RT-PCR
			PCR-based tests where the result is needed urgently for prenatal diagnosis
URGENT	Ultra rapid	NA	NIPT	27	7
URGENT	Rapid	Rapid	Microarray for prenatal / urgent postnatal (e.g. neonatal referrals)	27	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	58	21
		Complex rapid	NIPD	58	21
NON-URGENT	Standard	Somatic Cancer	Standard HO karyotyping (e.g. MDS)	68	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	153	42 days (6 weeks)
		Rare Disease	Known familial mutation testing Standard STR based analysis Postnatal karyotyping (e.g. fertility or familial microarray follow-up)	153	42 days (6 weeks)
NON-URGENT	Complex Standard	Rare Disease	Large gene-panels (>10 genes) or WES for standard referral indications	320	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).