Genetics laboratory services
Common constitutional (blood) referral reasons to the Regional Cytogenetics and Molecular Genetics Laboratories are listed below. For alternative sample types please see the relevant cytogenetic pages e.g. prenatal, haematological malignancy (bone marrow and blood samples), other malignancies (FFPE, lymph node), solid tissues.
Cytogenetic Testing - please see Cytogenetics Department homepage for further information
- A blood sample in Lithium Heparin is required for karyotype and FISH.
- Blood in EDTA is required for array testing for neurodevelopmental disorders.
- For a list of constitutional FISH tests available click here.
Molecular Genetic Testing - please see Molecular Genetics homepage for further information
- A blood sample in EDTA (1-4 ml) is required for most types of Molecular Genetic testing.
- For alternative sample types (e.g. CVS or amniocentesis samples for prenatal diagnosis) please see Molecular Genetics sample requirements
- For additional Molecular Genetic tests available in the laboratory please click here
The table below includes some of the conditions investigated on blood samples by the Genetics Laboratories and the required tube type:
|
Condition |
Investigation |
Sample Requirements |
|
Angelman Syndrome (AS): Molecular Genetic testing information If negative consider array |
Molecular Genetics Array |
Blood in EDTA (1-4 ml) |
|
Chromosomal microarray is appropriate for patients with LD with any form of dysmorphism or autistic behaviour. Array testing will exclude in a single test any of the common microdeletion syndromes previously tested for by individual FISH testing. |
Array |
Blood in EDTA |
|
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
|
Charcot Marie Tooth disease type 1A (CMT1A) (PMP22 duplication) |
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
Congenital abnormalities with learning difficulties or behavioural problems |
Array |
Blood in EDTA see neurodevelopmental disorders page |
|
Cri-du-Chat syndrome (5p15.2 deletion)* |
Karyotype/FISH or Array |
Blood sample in Lithium Heparin Blood sample (1-4 ml) in EDTA |
|
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
|
Developmental delay/learning disability with dysmorphism, congenital abnormality or behavioural problems |
Array |
Blood in EDTA see neurodevelopmental disorders page |
|
Di-George Syndrome/VCFS(22q11.2 deletion)* |
FISH or Array |
Blood sample in Lithium Heparin Blood sample (1-4 ml) in EDTA |
|
DNA storage |
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
Dysmorphism with learning difficulties or behavioural problems |
Array |
Blood in EDTA see neurodevelopmental disorders page |
|
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
| FISH - microarray testing may be more appropriate in probands |
Array |
Blood sample in EDTA see neurodevelopmental disorders page |
|
Fragile X syndrome Molecular Genetics testing information.pdf For patients with suspected Fragile X syndrome an array test as well as Fragile X testing may be appropriate |
Molecular Genetics Array |
Blood sample (1-4 ml) in EDTA |
|
Molecular Genetics |
Blood sample (1 - 4 ml) in EDTA |
|
|
Molecular Genetics |
Blood sample (2 x 4 ml) in EDTA |
|
|
Hereditary Neuropathy with liability to Pressure Palsies (HNPP) (PMP22 deletion) |
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
Hereditary Non-Polyposis Colorectal Cancer (HNPCC), Lynch syndrome |
Molecular Genetics |
Blood sample (2 x 4 ml) in EDTA |
|
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
|
Infertility/Azoospermia Please indicate if molecular genetic testing for Cystic Fibrosis is required. |
Karyotype and Molecular Genetics |
Blood in Lithium Heparin and EDTA (1-4 ml) |
|
Kallmann syndrome (X-linked)(Xp22.3 deletion)* |
Array
|
Blood sample in Lithium Heparin |
|
Karyotyping/Chromosome analysis |
Karyotype |
Blood sample in Lithium Heparin |
|
Klinefelter |
Karyotype |
Blood sample inLithium Heparin |
|
Langer-Giedion syndrome(8q23.2-q24.1 deletion)* |
Array |
Blood sample (1-4 ml) in EDTA see neurodevelopmental disorders page |
|
Maternal Contamination (send with any prenatal sample) |
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
Miller-Dieker (lissencephaly)(17p13.3 deletion)* |
FISH or Array |
Blood sample in Lithium Heparin Blood sample (1-4 ml) in EDTA see neurodevelopmental disorders page |
|
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
|
Neurodevelopmental disorders |
Array |
Blood sample (1-4 ml) in EDTA see neurodevelopmental disorders page |
|
Prader-Willi Syndrome (PWS): Molecular Genetics tesing information If negative consider array |
Molecular Genetics Array |
Blood in EDTA (1-4 ml) |
|
Premature Ovarian Failure (POF) Please indicate if molecular genetic testing for a Fragile X (FMR1) premutation is required |
Karyotype and Molecular Genetics |
Blood in Lithium Heparin and EDTA (1-4 ml) |
|
Recurrent Miscarriage (3 or more consecutive miscarriages where no POC available/unsuitable for analysis) |
Karyotype |
Blood sample in Lithium Heparin |
|
Roberts Syndrome |
Cytogenetic investigation |
Blood sample in Lithium Heparin |
|
Smith-Magenis syndrome (SMS) (17p11.2 deletion)* |
Array |
Blood sample (1-4 ml) in EDTA see neurodevelopmental disorders page |
|
Molecular Genetics |
Blood sample (1-4 ml) in EDTA |
|
|
Turner Syndrome |
Karyotype |
Blood sample in Lithium Heparin |
|
Williams syndrome(7q11.23 deletion)* |
Array |
Blood sample (1-4 ml) in EDTA see neurodevelopmental disorders page |
|
Wolf-Hirschhorn syndrome(4p16.3 deletion)* |
Array |
Blood sample (1-4 ml) in EDTA see neurodevelopmental disorders page |
|
X-linked Ichthyosis(Xp22.3 deletion) |
Array |
Blood sample in (1-4ml) in EDTA |
* for patients suspected of having these diagnoses microarray testing is more appropriate and would cover multiple FISH tests.
This is a list of the common constitutional referral types and other tests may be available. This is not an exhaustive list of services. Please contact the laboratories for further information.
Page last updated 11/02/2022. Please note that if printed, this information is only valid on the day of printing.