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All testing is performed in-house in a dedicated genomics laboratory that brings together molecular genetics, cytogenetics and next-generation sequencing. Each technology is chosen for the clinical question it answers best, and many cases use more than one method. This page sets out how to select a test, what each sample needs and how to reach the scientific team.

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Referring & Requesting Tests

From test selection to the signed report.

1

Select The Test

Use the test selection guide below or Find a Test. The scientific team can advise on the most suitable test.

2

Prepare The Documentation

Include the completed requisition form, clinical information and signed consent. For prenatal samples, include gestational age, ultrasound findings and a maternal EDTA blood sample.

3

Label & Send The Sample

Label every sample with at least two patient identifiers, matching the requisition form. Transport all samples at room temperature unless stated otherwise. Do not freeze.

4

Laboratory Acceptance Checks

Sample type, volume, container, transport time and temperature are checked against acceptance criteria. Samples that do not meet the criteria are referred back to the clinician promptly.

5

Report & Follow-up

Each report is prepared by a qualified scientist, reviewed independently and signed out by an authorised specialist. Reports state the test performed, the regions analysed, the result and its interpretation, recommendations for follow-up and the limitations of the test.

Test Selection Guide

Screening for common trisomies, from 10 weeks: NIPT.
High-chance NIPT or serum screening result: CVS or amniocentesis with QF-PCR, followed by karyotyping or microarray.
Fetal structural anomalies or nuchal translucency of 3.5 mm or more: QF-PCR followed by chromosomal microarray.
Fetal anomalies with normal QF-PCR and microarray: consider whole exome sequencing.
Parent carries a balanced rearrangement: karyotyping, with FISH or microarray as appropriate.

Products of conception: QF-PCR and chromosomal microarray.
Recurrent pregnancy loss: karyotyping of both partners.
Infertility, azoospermia or primary amenorrhoea: karyotyping.

Suspected Down syndrome, Turner syndrome or other aneuploidy: karyotyping, with QF-PCR for a rapid result.
Developmental delay, intellectual disability, autism or multiple congenital anomalies: chromosomal microarray as first-tier test.
Suspected specific microdeletion syndrome, such as 22q11.2 deletion: FISH or chromosomal microarray.
Early-onset or treatment-resistant epilepsy: epilepsy gene panel or whole exome sequencing.
Suspected skeletal dysplasia: skeletal dysplasia gene panel.
Complex or undiagnosed presentation, or negative earlier testing: trio whole exome sequencing.

Advanced or metastatic solid tumour, before choosing treatment: Solid Tumour Precision Panel (50 genes).
Progression on targeted therapy: Solid Tumour Precision Panel (50 genes) on a new biopsy.
Suspected hereditary cancer predisposition: germline testing is required, as tumour profiling cannot determine whether a variant is inherited.

Sample Requirements

General requirements:

Label every sample with at least two patient identifiers, matching the requisition form.
Include the completed requisition form, clinical information and signed consent.
For prenatal samples, include gestational age, ultrasound findings and a maternal EDTA blood sample.
Transport all samples at room temperature unless stated otherwise. Do not freeze.

Test	Sample and Transport
NIPT	10 mL maternal blood in a cell-free DNA collection tube, from 10 weeks of gestation. Do not refrigerate.
QF-PCR	Amniotic fluid 5 to 10 mL, chorionic villi 10 to 20 mg, blood 1 to 2 mL in EDTA, or fresh products of conception. Reach the laboratory within 24 hours.
FISH	Amniotic fluid 5 to 10 mL, chorionic villi 10 to 20 mg, or peripheral blood 2 to 3 mL in sodium heparin. Reach the laboratory within 24 hours.
Karyotyping	Peripheral blood 2 to 3 mL in sodium heparin (1 mL for infants), amniotic fluid 15 to 20 mL, chorionic villi 15 to 20 mg, or fresh products of conception in sterile transport medium. Living cells are required. Do not use EDTA tubes or formalin. Reach the laboratory within 24 hours.
Chromosomal Microarray	Peripheral blood 2 to 3 mL in EDTA, amniotic fluid 10 to 15 mL, chorionic villi 10 to 20 mg, fresh products of conception, or at least 500 ng extracted DNA. Prenatal samples need a maternal EDTA blood sample.
Targeted Gene Panels and Whole Exome Sequencing	Peripheral blood 3 to 5 mL in EDTA, or at least 1 µg extracted DNA. For trio exome sequencing, send samples from both biological parents. Include detailed clinical features and family history.
Solid Tumour Precision Panel (50 genes)	FFPE tumour block, or 8 to 10 unstained sections of 5 to 10 µm with one H&E slide, with at least 20% tumour content. Include the histopathology report.

Samples That May Be Rejected

Unlabelled or mislabelled samples, or samples that do not match the requisition form
Clotted or haemolysed blood samples
Samples in the wrong tube type, such as EDTA for karyotyping
Frozen samples for cell culture
Tissue for culture placed in formalin
Samples received outside their stability period

Tumour Profiling Guidance

Select the FFPE block with the highest tumour content and least necrosis.
A tumour content of at least 20% is preferred. Samples with lower tumour content are assessed individually.
For small biopsies or cytology, a cell block with adequate cellularity is acceptable.
Recent blocks (less than 3 years old) give the best nucleic acid quality.
Use tissue fixed in 10% neutral buffered formalin for 6 to 72 hours.
Avoid bone samples decalcified with strong acid. EDTA-decalcified samples may be acceptable.

FFPE tumour block (preferred).
8 to 10 unstained sections of 5 to 10 µm on plain glass slides, with one matching H&E-stained slide.
FFPE cell block from fine needle aspiration or effusion fluid.

Histopathology report with block or slide identification.
Clinical summary: diagnosis, stage and previous targeted therapy.
Signed requisition and patient consent.

FFPE blocks and slides are transported at room temperature (15 to 25°C), protected from heat and direct sunlight. No cold chain is required.

A pathologist reviews the H&E slide, confirms tumour content and marks the tumour area for macrodissection where required. If a sample is unsuitable, the referring clinician is informed within 1 working day so that an alternative block can be sent.

3 working days from receipt of a suitable sample at the laboratory.

Clinically significant variants, tiered according to the AMP/ASCO/CAP guidelines for somatic variant interpretation (Tier I: strong clinical significance; Tier II: potential clinical significance).
Approved targeted therapies associated with each finding.
Relevant clinical trial options.
Variants of uncertain significance (Tier III), listed separately.
Sample details, tumour content and quality metrics.
Genes and regions analysed, and test limitations.

A negative result means no reportable alteration was detected in the regions analysed. It does not exclude alterations below the limit of detection, outside the panel, or in samples with low tumour content. Where clinical suspicion remains high, repeat testing on another block or alternative testing may be considered.

Reporting Support

Each report is prepared by a qualified scientist, reviewed independently and signed out by an authorised specialist. Reports state the test performed, the regions analysed, the result and its interpretation, recommendations for follow-up and the limitations of the test.

Contact The Scientific Team

Interpretation Standards

Germline Sequence Variants

ACMG/AMP guidelines for the interpretation of sequence variants.

Copy Number Variants

ACMG and ClinGen technical standards for the interpretation of constitutional CNVs.

Somatic Variants in Cancer

AMP/ASCO/CAP guidelines for the interpretation of somatic variants.

Variant Nomenclature

Human Genome Variation Society (HGVS).

Cytogenetic Nomenclature

International System for Human Cytogenomic Nomenclature (ISCN).

Counselling referrals

Refer patients and families for genetic counselling before testing or after results. Send a short professional enquiry with your details; the counselling coordinator will follow up. Patient identifiers and clinical history are not needed at this stage.

Refer a Patient for Counselling About The Service

Who May Benefit

Couples with a high-chance prenatal screening result or abnormal ultrasound findings
Couples with recurrent pregnancy loss or a previous affected pregnancy
Parents of a child with developmental delay, birth defects or a suspected genetic condition
Individuals with a family history of a genetic condition
Patients receiving complex or uncertain genetic results

Hospitals & Diagnostic Partners

Hospitals and diagnostic partners can discuss institutional requirements with SIG, from test selection and sample coordination to reporting.

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Cancer Genomics

Identifying the genetic changes in a tumour that help match patients to targeted therapies and clinical trials.

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Rare & Inherited Disorders

Finding the genetic cause of developmental delay, congenital anomalies and suspected syndromes, and what it means for the family.

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Reproductive & Prenatal Genetics

Screening and diagnostic testing in pregnancy, investigation of pregnancy loss and parental chromosome studies.

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Request A Partnership Discussion