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. prenatalhaematological malignancy (bone marrow and blood samples)other malignancies (tumour, lymph node etc)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/MR 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

Becker Muscular Dystrophy (BMD)

Molecular Genetics

Blood sample (1-4 ml) in EDTA

Charcot-Marie Tooth Disease (CMT) Type 1A/ HMSN1A (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

Cystic Fibrosis (CF)

Molecular Genetics

Blood sample (1-4 ml) in EDTA

Developmental Delay/Mental Retardation 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

Duchenne Muscular Dystrophy (DMD)

 

Molecular Genetics

 

Blood sample (1-4 ml) in EDTA

Familial Adenomatous Polyposis (FAP)

Molecular Genetics

 

Blood sample (2 x 4 ml) in EDTA

Fanconi Anaemia

Cytogenetic investigation

Blood sample in Lithium Heparin (2-4 ml)

FISH if requesting FISH please specify tests required see probe list. N.B. array testing may be more appropriate in probands

FISH

Blood sample in Lithium Heparin

Fragile X syndrome Molecular Genetic Testing Information

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

neurodevelopmental disorders page

Haemochromatosis (HFE)

Molecular Genetics

Blood sample (1 - 4 ml) in EDTA

Hereditary Breast and Ovarian Cancer (BRCA1/BRCA2)

Molecular Genetics

Blood sample (2 x 4 ml) in EDTA

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP/HLPP) (PMP22 deletion)

Molecular Genetics

Blood sample (1-4 ml) in EDTA

Hereditary Non-Polyposis Colorectal Cancer (HNPCC), Lynch Syndrome (MLH1, MSH6 & PMS2)

Molecular Genetics

Blood sample (2 x 4 ml) in EDTA

Huntington Disease (HD)

Molecular Genetics

Blood sample (1-4 ml) in EDTA

Infertility/Azoospermia

Karyotype and Molecular Genetics

Blood in Lithium Heparin and EDTA (1-4 ml)

Kallmann syndrome (X-linked)(Xp22.3 deletion)*?

FISH

 

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)*?

FISH

or

Array

Blood sample inLithium Heparin

Blood sample (1-4 ml) in EDTA  see neurodevelopmental disorders page

Long QT syndrome

Molecular Genetics

Blood sample (1-4 ml) in EDTA

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

Myotonic Dystrophy type I (DM1)

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 Genetic Testing Information

If negative consider array

Molecular Genetics

Array

Blood in Lithium Heparin and EDTA (1-4 ml)

Premature Ovarian Failure (POF)

Karyotype and Molecular Genetics

Blood in Lithium Heparin and EDTA (1-4 ml)

Recurrent Miscarriage

Karyotype

Blood sample in Lithium Heparin

Rett Syndrome (MECP2)

Molecular Genetics

Blood sample (1-4 ml) in EDTA

Roberts Syndrome

Cytogenetic investigation

Blood sample in Lithium Heparin

Smith-Magenis syndrome (SMS) (17p11.2 deletion)*

FISH

or

Array

Blood sample in Lithium Heparin

Blood sample (1-4 ml) in EDTA  see neurodevelopmental disorders page

Spinal Muscular Atrophy (SMA)

Molecular Genetics

Blood sample (1-4 ml) in EDTA

Turner Syndrome

Karyotype

Blood sample in Lithium Heparin

Williams syndrome(7q11.23 deletion)*

FISH

or

Array

Blood sample in Lithium Heparin

Blood sample (1-4 ml) in EDTA  see neurodevelopmental disorders page

Wolf-Hirschhorn syndrome(4p16.3 deletion)*

FISH

or

Array

Blood sample in Lithium Heparin

Blood sample (1-4 ml) in EDTA  see neurodevelopmental disorders page

X-linked Ichthyosis(Xp22.3 deletion)

FISH

Blood sample in Lithium Heparin

* for patients suspected of having these diagnoses microarray testing may be 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 29/10/2018. Please note that if printed, this information is only valid on the day of printing.