Services Provided

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For specific information on laboratory tests please visit the OLCHC lab app.  The OLCHC Lab App is also available for Android and iPhone

The following outlines a summary of services provided by the Department of Clinical Genetics.


Division of Clinical Genetics

The clinical genetics service in OLCHC provides a diagnostic, counselling and clinical genetic testing service for children and adults affected by or at risk of a genetic condition. The service sees and manages families with genetic conditions, rather than individual patients.  The service is staffed by four consultants, Professor Andrew Green, Dr Willie Reardon, Dr Sally Ann Lynch and Dr Lisa Bradley. Genetic Counsellors are an integral part of the clinical team.  Genetic Counsellors see families where a diagnosis is known.

Departmental telephone numbers:

Contact

Telephone

General enquiries

01-409 6739 (voicemail checked daily)

Clinic Fax:

01-456 0953

Clinic Booking

 Secretary Telephone

Professor Green

01-409 6902

Dr Reardon

01-409 6069

Dr Lynch

01-409 6298

Dr Bradley

01-428-2800

Cancer Genetics

01-409 6722

 

Referrals

Common referrals include

  • Children/adults with congenital anomalies or delayed development

  • Families affected by or at risk of chromosome disorders

  • Families affected by inherited disorders such as cystic fibrosis

  • Families affected by or at risk of hereditary cancer

  • Families affected by or at risk of hereditary heart disease

  • Families affected by or at risk of inherited neurological disorders

  • Healthy family members seeking predictive genetic tests for the genetic disorder identified in their family



Cancer genetic referrals

Referral criteria for doctors wishing to refer patients with cancer for advice and potential testing for hereditary cancer are available (link to be added)

Advice for GP's whose patients are enquiring about a family history of cancer are available. (link to be added)

Following a referral form their doctor, a family history questionnaire is used to assess a patient’s cancer family history, and is available for download here (link to be added)

Specific information for oncologists about direct ordering of BRCA genetic testing for women affected by papillary serous ovarian cancer is available from the NCCP section of the HSE website. Please click here: BRCA Testing

Waiting Lists

The current Consultant Genetic waiting list is on the NTPF website via the following link http://www.ntpf.ie/home/outpatient.htm  Numbers of patients waiting for genetics clinics are recorded on the “Specialty tab" and grouped under “Other Specialties”.

 


Division of Cytogenetics     

Chief Clinical Scientist: David Betts (david.betts@olchc.ie)

 

The Cytogenetic Lab offers analyses on:

  • Blood for G-banding (5ml in lithium heparin is required, 1-2ml if neonates)

  • Blood for microarray (5ml in EDTA is required, minimum 1ml if neonates)

  • Skin (in sterile transport media, never in formalin).

  • Bone marrow and peripheral blood for oncology studies (1.5 - 2ml in transport medium with heparin).

  • Peripheral blood for oncology studies (5ml in lithium heparin is required or 5ml in EDTA for CLL studies, 1-2ml if neonates)

  • Amniotic Fluid (10 ml of amniotic fluid is required).

  • Chorionic villi (please contact lab before taking sample).

  • Slides, e.g. buccal smears, touch preps, bone marrow smears, etc. should be sent unstained and preferably unfixed.

  • Tumour, frozen sent on dry ice


Samples for cytogenetic analysis should not be refrigerated (except slides). All samples must be accompanied by a referral form and packaged according to UN guidelines.

 

Current testing repertoire within the Division of Cytogenetics

Test Category

Testing performed

Description

Microarray

OLCHC + external hospitals through SLA

Neuroblastoma (OLCHC-Oncology)

Molecular cytogenetic whole genome analysis that has replaced G-band analysis for many constitutional disorders such as investigations for developmental delay, congenital abnormalities, etc.

Constitutional (Post Natal)

 

National <18yrs or family history of chromosome abnormality where G-band is indicated.

OLCHC-only Tissue e.g. skin

Post natal G-band analysis (chromosomes, karyotyping) typically for either possible trisomies or sex chromosome abnormalities

Prenatal

 

G-band for NMH and Rotunda (occ. Coombe)

Prenatal analysis on either chorionic villus (CVS) or amniotic fluid (AF) samples by G-band analysis

 

Haematology/

Oncology

 

National – Haematology: Myeloid and acute lymphoid (G-band and/or FISH)

CLL, multiple myeloma and high grade NHL (FISH only)

A national services for many haematological neoplasms that are investigated either by G-band, FISH or a combination of both (some restrictions currently apply)

Referral Service for

Chromosome Breakage Syndromes

 

Referrals for Fanconi Anaemia are sent to:

 

 

 

It is recommended that samples are referred directly to Bristol (see address below).  Please inform the Bristol lab prior to sending samples.

Bristol Genetics Laboratory
Pathology Sciences
Southmead Hospital
Westbury-on-Trym
Bristol
BS10 5NB

Enquiries telephone: +44 117 414 6168
Fax: +44 117 414 6464

Email: 
Nbn-tr.geneticsenquiries@nhs.net

The cost of this service will be invoiced directly to the referring clinician. 

 

 

Division of Molecular Genetics

Chief Clinical Scientist: David Barton (david.barton@olchc.ie)

All samples must be accompanied by a referral form and packaged according to UN guidelines.

Generally 3-5ml of EDTA blood (FBC bottle) is required, except where otherwise indicated.  

Important Notes

  • Other sample types by arrangement only.

  • Samples for molecular genetic analysis may be refrigerated but do not freeze prior to or during postage.

  • Additional test requests on previously stored samples must be received in writing (email, letter or fax).

  • We require 48 hours’ notice for requests for copies of reports; it is our policy not to issue verbal reports.

  • Individual elements of our reports should not be copied or transferred to other systems; the report should only be copied in its entirety.

  • If your patient has recently been transfused or has ever had a bone marrow transplant, please read the “Transfusions and Transplants’ information in ”Instructions for Preparing Your Patient” which can be found on the OLCHC lab app. The OLCHC Lab App is also available for Android and iPhone

 

Current testing repertoire within the Division of Molecular Genetics

Disease Name

Synonyms; gene(s)

Angelman Syndrome

AS

Lynch Syndrome

HNPCC

Hereditary Breast Cancer

BRCA

Cystic Fibrosis

CF

Fragile X Syndrome

FraX

Friedreich Ataxia

FA

Huntington Disease

HD; Huntington’s chorea

Infantile liver failure syndrome 1

LARS;Leucyl tRNA synthase

Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect

MCM4; Minichromosome maintenance complex component 4

Osteogenesis Imperfecta Type VIII

OI-P3H1; prolyl 3-hydroxylase 1

Prader Willi Syndrome

PWS

Sickle Cell Anaemia

Sickle

Russell Silver Syndrome

RSS

Spinal Muscular Atrophy

SMA

Uniparental disomy

UPD

Referral Service

For a list of referral labs please visit the OLCHC lab app. The OLCHC Lab App is also available for Android and iPhone

 

Private Hospitals

Samples from private hospitals must adhere to our acceptance criteria.  Private hospitals must have signed an agreement of payment for testing before any samples are sent.  For further information please contact David Betts (Chief Scientist Cytogenetics) on 01-409 6738 david.betts@olchc.ie, David Barton (Chief Scientist Molecular Genetics) on 01-409 6749 david.barton@olchc.ie