DIAGNOSIS OF GENETIC DISORDERS IN AUSTRALASIA 15/6/2007 These are the Australasian laboratories notified to
HGSA, which offer diagnostic testing of genetic
disorders at the DNA level. The information they
contain is continuously updated with input from the
laboratories concerned. Updates are available on the
Web at http://www.hgsa.com.au .
To keep this information up to date please send any
information regarding insertions, deletions or
transcription errors etc. to:
Mandy Valsinger
Human Genetics Society of Australasia
PO Box 362,
Alexandra,
VIC 3714
Phone: 03 5772 2779
Fax: 03 5772 2778
Email: humangenetics@virtual.net.au
The table following lists the diseases for which
diagnostic testing is available in Australasia and
indicates which laboratories provide these tests.
Tests provided by individual states are not
necessarily available nationally. Listing of a
laboratory in this table does not imply endorsement
by the HGSA, or that the HGSA recommends the
services provided by the laboratory. Please contact
the appropriate laboratories directly for further
information regarding test protocols, availability
and charging, prior to sending samples.
The table does not include newborn screening
laboratories that test for CF.
PLEASE DO NOT SEND SAMPLES FOR
TESTING BEFORE CONTACTING THE
LABORATORY TO CONFIRM THAT IT IS
PREPARED TO PERFORM THE REQUIRED
TEST. DNA Testing Laboratories ACT 1. Molecular Pathology
The Canberra Hospital
Canberra, ACT, 2606.
Mrs Michelle McNiven, Ph: (06) 2443485,
FAX: (06) 2442912
Email: michellemcniven@dpa.act.gov.au NEW SOUTH WALES 1. Department of Molecular & Clinical
Genetics, Royal Prince Alfred Hospital,
Camperdown, NSW, 2050
Professor RJA Trent Ph: 02 9515 7514 Fax:
02 9515 7595
Email: rtrent@med.usyd.edu.au http://www.cs.nsw.gov.au/rpa/molclin/ 2. Kanematsu Laboratories, Royal Prince
Alfred Hospital, Camperdown, NSW, 2050
Assoc Prof H J Iland:
Ph: 02 9515 7655 FAX: 02 9515 6255 3. Department of Haematology, ICPMR,
Westmead Hospital, Westmead NSW 2145
Dr Mark Hertzberg, Ph: 02 9845 6274
Fax: 02 9689 2331
Email: markh@westmead.wh.usyd.edu.au 4. Cancer Genetics, Kolling Institute of
Medical Research, Department of Molecular
Medicine, Royal North Shore Hospital and
Sydney University, St Leonards, NSW,
2065
Prof Bruce Robinson Ph: 02 9926 7267 FAX: 02 9926 8523 Email: bgr@med.usyd.edu.au 5. S.E.A.L.S. Level 4 Campus Center Prince
of Wales Hospital Randwick N.S.W. 2031
5a Molecular and Cytogenetics Unit,
Haematology Dept, Dr Michael Buckley,
Mr Peter Taylor, Ph: 02 9382 9164
FAX: 02 9382 9116
Email: michael.buckley@sesiahs.health.nsw.g
ov.au 6. Molecular Medicine Laboratory, Concord
Hospital, Concord, NSW, 2139
Dr G Nicholson, Ph: 02 9767 6796
FAX: 02 9736 6194
Email: molmed@med.usyd.edu.au 7. Division of Genetics, John Hunter Hospital,
New Lambton, Newcastle, 2305
Prof Rodney J. Scott Ph: 02 4921 4974
FAX: 02 4921 4253
Email: rodney.scott@newcastle.edu.au 8. Haematology Research Laboratory, St
Vincents Hospital, Darlinghurst 2010,
Dr Phil Kearney Ph: 02 9295 8416
FAX: 02 9295 8451
Email: p.kearney@garvan.unsw.edu.au 9. Familial Cancer Service, Westmead
Hospital, Westmead, NSW 2145
Jenny Leary, Ph: 02 9845 6123
FAX: 02 9687 2331
Email: jenny_leary@wmi.usyd.edu.au 10. Laboratory and Community Genetics,
Level 5, Main Block
Royal North Shore Hospital
St Leonards 2065 NSW
Anne Proos
Ph: 02 9926 8899
FAX: 02 9439 2798
Email: aproos@med.usyd.edu.au 11. Dept of Molecular Genetics, Western
Sydney Genetics Program, The Childrens
Hospital at Westmead, Hawkesbury Rd,
Westmead NSW 2145
Dr Bruce Bennetts Ph: 02 9845 3246
FAX: 02 9845 3204
Email: BruceB@chw.edu.au 12. Molecular Immunology, Department of
Immunopathology, ICPMR, Westmead
Hospital, Westmead NSW 2145 Assoc Prof E. Benson Ph: 02 9845 6933
FAX: 02 9891 3889
Email: elizab@westgate.wh.usyd.edu.au 13. Sydney Genetics, Level 3, 321 Kent St,
Sydney NSW Postal: GPO Box 4384, Syney
NSW 2000
Ms Andrijana Trninic/Mr Dale Wright
Ph: 02 9229 6495
Fax 9229 6400
Email: andrijana.trninic@sydneyivf.com dale.wright@sydneyivf.com 14. Molecular Genetics, Sonic Clinical Institute,
95 Epping Road North Ryde 2113
Dr Karl Baumgart Ph: 02 9855 5286
Fax: 02 9878 5077
Email: Kbaumgart@dhm.com.au Craig Kennedy Ph: 02 9855 5402
Fax: 02 9855 5446
Email: ckennedy@sonichealthcare.com.au www.sonicclinicalinstitute.com.au 15. NSW Porphyrin Reference Unit
Department of Clinical Biochemistry,
Royal Prince Alfred Hospital
Missenden Rd
Camperdown, NSW, 2050
Dr Victor Poulos/A.Prof Peter Stewart
Ph: 02 9515 8572 Fax: 02 9515 7931
Email: victor.poulos@email.cs.nsw.gov.au peter.stewart@email.cs.nsw.gov.au
NEW ZEALAND 1. No longer does any testing 2. University of Otago, Cancer Genetics Lab,
Dept of Biochemistry
Assoc Professor A Reeve, Ph: 03 479 7699
FAX: 03 479 7738 Email: anthony.reeve@stonebow.otago.ac.nz 3. Molecular Laboratory, Specialist
Laboratory Services, Capital Coast Health
DHB
Wellington Hospital CSB Level F
Riddiford Street Private Bag 7902
Wellington South 6039 New Zealand
Dr Serena Rooker Ph:+64 4 385 5999x6059 FAX: +64 4 385 5822 Email: serena.rooker@ccdhb.org.nz 4. Molecular Genetics Laboratory,
Department of Diagnostic Genetics,
LabPlus Auckland City Hospital,
PO Box 110031, Auckland
Ms Elaine Doherty (Section Leader),
Ph: 09 309 4949 ext 6356 or 6104
Fax: 09 307 4939
Email: EDoherty@adhb.govt.nz Dr Don Love (Director,Diagnostic Genetics) Ph: 09 309 4949 ext 6798
Fax: 09 307 4949
Email: DonaldL@adhb.govt.nz 5. Molecular Haematology Section,
Department of Diagnostic Genetics, LabPlus, Auckland City Hospital,
PO Box 110031, Auckland
Dr Neil Van de Water, Dr Peter Browett,
Ph: 09 307 4949 ext 2016
FAX: 09 375 4321
Email: neilv@adhb.govt.nz 6. Cytogenetic and Molecular Oncology Unit,
Canterbury Health Laboratories, Private
Bag 151, Christchurch
Dr Vickie Hanrahan, Dr Christine Morris
Ph: (64 3) 364 0 300 (ext 89785)
FAX: (64 3) 364 0750
Email: vickie.hanrahan@cdhb.govt.nz 7. Molecular Pathology Laboratory,
Canterbury Health Laboratories,
PO Box 151, Cnr Tuam & Hagley Ave,
Christchurch
Dr Andrew Fellowes, Dr Peter George
Ph: 03 364 0546, FAX: 03 364 0545
Email: molpath@chmeds.ac.nz 8. Dept of Pathology, Christchurch School of
Medicine & Health Sciences PO Box 4345
(Courier: 5 th Floor, CSM Building, Riccarton Avenue) Christchurch
Dr Martin A Kennedy Ph: 03 364 1222
Fax: 03 364 0525
Email: martin.kennedy@chmeds.ac.nz 9. Molecular Immunology
Department of Virology and Immunology
LabPlus, Auckland City Hospital
PO Box 110031
Auckland
Dr See-Tarn Woon, Dr Rohan Ameratunga
Ph: 64-9-307-4949 ext 7616
Fax:64-9-307-2826
Email: stwoon@adhb.govt.nz
QUEENSLAND 1. Applied Molecular Biology Unit,
Biochemistry State Health Laboratory,
Lab no longer functioning 2. Molecular Genetics Laboratory
QHPS-Central Laboratory
Sir Raphael Cilento Building (Block 7)
Herston Hospitals Campus
Herston 4029
Queensland, Australia
Dr Valentine J Hyland
Ph: 07 3636 8072, 07 3636 8434
Fax: 07 3636 1505
Email: val_hyland@health.qld.gov.au Dr John Rowell (Director, Haematology)
Ph: 07 3636 8067
Fax: 07 3636 1392
Email: john_rowell@health.qld.gov.au 3. Genomics Research Centre,
Griffith University Gold Coast Campus
School of Medical Science
Building GO5_R3.20
Parklands Drive, Southport QLD 4215
Prof Lyn Griffiths/Sharon Quinlan
Ph: 07 5552 9201 Fax: 07 5552 9202
Email: s.quinlan@griffith.edu.au 4. Molecular Pathology Laboratory, Sullivan
Nicolaides Pathology,
134 Whitmore Street, Taringa 4068
Dr Jenny Robson (Pathologist)
Ph: 07 3377 8673, Fax: 07 3371 9846 5. Genetics Department, Queensland Medical
Laboratory,11 Riverview Place, Murarrie,
QLD 4172. Ms Sue White
Ph: 07 3121 4595 Fax: 07 3121 4472
Email: sue.white@qml.com.au Dr Claudia Fazeli: Ph 07 3121 4054 Fax: 07
3121 4472 Email: claudia.fazeli@qml.com.au 6. Mater Laboratory, 6 th Floor Pathology, Mater Adult Hospital, Raymond Tce, South
Brisbane 4101 Ivan McGown
Ph: 07 3840 8996 FAX 07 3840 8338
Email: ivan_mcgown@mater.org.au SOUTH AUSTRALIA 1. Molecular Medicine and Cytogenetics
Department of Genetic Medicine,
Womens and Childrens Hospital, North
Adelaide 5006
Dr Sui Yu
Ph: 08 8161 7284 Fax: 08 8161 7342
Dr Kathie Friend Ph 08 8161 7107, Fax:
08 8161 7342
Email: kathryn.friend@adelaide.edu.au 2. Biochemicl Genetics Unit, Department of
Genetic Medicine, Womens and
Childrens Hospital,
72 King William Rd, North Adelaide,
5006
Dr Michael Fietz / Paul Nelson
Ph: 08 8161 8062 / 8161 6705
Fax: 08 8161 7100
Email: michael.fietz@adelaide.edu.au http//www.chempath.adelaide.com/nrl 3. Institute of Medical and Veterinary
Science, (IMVS)
Frome Road, Adelaide SA 5000
Dr Z Rudzki, Molecular Pathology,
Ph: 08 8222 3630 Fax: 08 8228 3538
Jacqueline Carroll Ph: 08 8222 3895
Fax: 08 8222 3146
Email: jacqueline.carroll@imvs.sa.gov.au 4. IMVS Mr S Sobecki, Clinical
Biochemistry Ph: 08 8222 3565 Fax: 08
8222 3538
Email: stanley.sobecki@imvs.sa.gov.au 5. IMVS Ms S Moore, Haematology
Ph: 08 8222 3635 Fax: 08 8222 3162 6. IMVS Dr D Gillis, Immunology
Ph: 08 8222 3489 FAX: 08 8222 3538 7. Genetic Pathology, South Path
Flinders Medical Centre, Bedford Park,
South Australia, 5042
Assoc Prof Pamela Sykes
Ph: 08 8204 4379 FAX: 08 8204 5450
Email: pamela.sykes@fmc.sa.gov.au TASMANIA 1. Cytogenetics and Molecular Medicine
Royal Hobart Hospital, GPO Box 1061L
Hobart, Tasmania 7001
Katherine Marsden / Jan Williamson
Ph: (03) 6222 8912
Email: jan.williamson@utas.edu.au VICTORIA 1. Molecular Genetics Laboratory
Victorian Clinical Genetics Service
Murdoch Childrens Research Institute
10 th Floor Royal Childrens Hospital Flemington Road Parkville, 3052
Dr Desiree du Sart / Ms Melanie Smith
Ph: 03 8341 6333/ 6275 Fax: 03 8341 6390
Email: desiree.dusart@mcri.edu.au melanie.smith@ghsv.org.au 2. Cytogenetics Laboratory
Victorian Clinical Genetics Service
Murdoch Childrens Research Institute
10 th Floor Royal Childrens Hospital Flemington Road Parkville, 3052
Dr. Howard Slater Ph: 03 8341 6258
Fax: 03 8341 6390
Email: slaterh@cryptic.rch.unimelb.edu.au 3. Clinical Genetics Laboratory
Level 3 Monash Medical Centre
246 Clayton Road, Clayton 3168
Dr Don Bowden / Mrs Jan Brasch
Ph: 03 9594 3398 Fax 03 9594 6271
Email: dnalab@southernhealth.org.au 4. St Vincents Neuromuscular Diagnostic
Laboratory, Dept of Clinical Neurosciences
and Neurological Research, 5 th Floor Daly Wing, St Vincents Hospital Assoc Prof Steve Collins Ph: 03 9288 3340
FAX: 03 9288 3350
Email: stevenjc@unimelb.edu.au Dr Rosetta Marotta Ph: 03 9288 3366
Email: rosetta.marotta@svhm.org.au Fax: 03 9288 3350 5. Molecular Pathology Laboratory
Royal Melbourne Hospital, Parkville.
Ph: 03 9342 7991 Fax: 03 9342 7190
Assoc Prof Paul Waring p.waring@pathology.unimelb.edu.au Margaret Smith Margie.smith@mh.org.au 6. Molecular Pathology
Peter McCallum Cancer Centre
Dr Serge Kovalenko
Ph: 03 9656 3595
Fax: 03 9656 1460 Email: Serge.Kovalenko@petermac.org Web: http://www.petermac.org/ 7. Molecular Diagnostics
Gribbles Pathology 1868 Dandenong Road
Clayton 3168 Dr Keith Byron
Ph: 03 9538 2272 or 0411 022 109
Email: keith.byron@gribbles.com.au 8. Haematology Department
Monash Medical Centre 246 Clayton Road Clayton 3168. Louis Meyepa
Ph: 03 9594 3490, Fax: 03 9594 6619 9. Molecular Oncology, Childrens Cancer
Centre Laboratory, 6 th Floor, Royal Children's Hospital, Flemington Rd,
Parkville 3052,
Dr Elizabeth Algar, Email: Elizabeth.algar@rch.org.au , Mr Vinod Dagar, Email: vinod.dagar@mcri.edu.au Phone: 03 9345 6579, Fax: 03 9345 4355
10. Molecular Pathology Laboratory
Gippsland Pathology Service
Latrobe Regional Hospital Campus
Princes Hwy Traralgon 3844
Ph: 03 5174 0800 Fax: 03 51760281
Neville Pattle / Dr Garry Grubb
Email: neville.pattle@symbionhealth.com garry.grubb@symbionhealth.com 11. Molecular Haematology
c/o Pathology Specimen reception
Level 2 Clinical Sciences Building (off
Royal Parade) Royal Melbourne Hospital
Dr Annabel Tuckfield/Mr Anthony H. Bell
Ph: 03 9342 7991 Fax: 03 9342 7190
E-mail: Annabel.Tuckfield@mh.org.au or Anthony.Bell@mh.org.au 12. Australian National CJD Registry
Department of Pathology, University of
Melbourne, Parkville, Victoria 3010
Alison Boyd Ph: 03 8344 1949 Fax: 03
9349 5105 Email: aboyd@unimelb.edu.au Website: http://ancjdr.path.unimelb.edu.au/ 13. Dept of Immunoserology & Molecular
Biology, Melbourne Pathology
Email: craig.redden@mps.com.au 14. Medical Diagnostics, Genetic Technologies
Ltd. 60-66 Hanover St Fitzroy Vic 3065
Dr Frank Firgaira Ph: 03 8412 7009, 0423
685 685 Fax: 03 9417 6863
Email: frank.firgaira@gtg.co.au Website: www.gtg.com.au (GENDIA) WESTERN AUSTRALIA 1. Clinical Chemistry, Joint Womens and
Childrens Hospital, Box D184 GPO
Perth, WA 6001. Dr Ted Edkins.
Ph: 08 9340 8595 Fax: 08 9340 8117
Email: Edward.Edkins@health.wa.gov.au 2. Royal Perth Hospital - Department of
Neuropathology
Dr Nigel Laing,
Ph: 08 9224 3136 FAX: 08 9224 2556
Email: nlaing@cyllene.uwa.edu.au or mark.davis@health.wa.gov.au 3. Dept of Clinical Immunology and
Biochemical Genetics, Royal Perth
Hospital, Wellington Street, Perth WA
A/Prof Frank Christiansen Email: frank.christiansen@health.wa.gov.au Dr Sam Vasikaran Email: samuel.vasikaran@health.wa.gov.au Laboratory: Mr John Beilby(Biochemical genetics), Ms Linda K Smith
(Immunogenetics) Ph: 08 9224 2899 FAX: 08 9224 2920 Email: john.beilby@health.wa.gov.au Email: linda.k.smith@health.wa.gov.au 4. Path Centre, Queen Elizabeth II Medical
Centre, Dr J Beilby
Ph: 08 9346 2368 FAX: 08 9346 3882
Email: john.beilby@health.wa.gov.au 5. Molecular Genetics Laboratory
Haematology Dept, Royal Perth Hospital,
Wellington Street, Perth WA 6000
Ms Melinda Higgins, Mr John Ivey
Ph: 08 9224 1160 Fax: 08 9224 3449
Email: melinda.higgins@health.wa.gov.au DISEASE / GENE TESTING LABORATORIES (* = Test under development)
Achondroplasia (see also FGFR tests) NSW5a NSW11 NZ7 Q2 SA1 V1 Adenylosuccinase deficiency/adenylsuccinate lyase Q6 Adrenoleukodystrophy/Adrenomyeloneuropathy
(ALD/AMN) (X-linked) NZ4,NZ7* SA2 Alpha-1 antitrypsin deficiency NSW12 Q2,4* WA1,3,4 Amyloid precursor protein (APP) for Alzheimers
disease V5 Androgen Insensitivity Syndrome (AIS)
See also Testicular Feminization Q6 Angelman syndrome NZ3,4 NSW1,11 Q2 SA1 V2 WA1 Angiotensin converting enzyme WA3 (I/D) WA4 (ACE) Ankylosing spondylitis (HLA B27 typing DNA
based)) NZ7 Q4* V10 WA3 Apert syndrome (see also FGFR tests) NSW5a NZ7 SA1 V1 Apolipoprotein B100 &/or E NZ7 Q2 Q4,5 SA4 WA3 V10 NSW10 Ashkenazi genetic disorders
Tay Sachs, Cystic Fibrosis, Canavan, Familial
Dysautonomia, Fanconi anemia,
Bloom Syndrome, Niemann-Pick Disease V1 Ataxia telangectasia WA1 Bannayan-Riley-Ruvalcaba Syndrome NSW4 Batten disease (see Infantile, Juvenile or Late-infantile
neuronal ceroid lipofuscinosis) Beckwith Wiedemann Syndrome V9 Beta-2-adrenoreceptor (ADRB2)
SNPs & full haplotypes NZ8 Bloom's Disease (Ashkenazi mutations) NSW10 V1 Breast Cancer BRCA 1 NSW5a,7,9 Q2 SA3,7 V5,6,14 WA1 BRCA 2 NSW5a,7,9 Q2 SA3,7 V5,6,14 WA1 Butyrylcholinesterase genotyping NZ5,7 WA3 CADASIL (Notch 3 gene) NZ7 WA2 Q3 SA7* Canavans disease SA2 NSW10 & V1 (Ashkenazi Jewish mutations) Carnitine palmityl transferase deficiency type II NZ7 Central Core Disease (RYR1 gene) WA2 Charcot-Marie-Tooth neuropathy type 1A (CMT1A,
CMT1B, CMTX) NZ7 NSW6 (CMT1A duplications, CMT1A & B point
mutations, connexin 32 sequencing for CMTX) SA1
WA2, (CMT neuropathy Type1) Chemokine receptor SNPs & deletions: CCR2, CCR5
& SDF1, HIV susceptibility WA3 Choroideremia NSW5a Colon cancer
See FAP,HNPCC, MYH Congenital adrenal hyperplasia Q6 WA1 Congenital disorder of glycosylation (CDG) type 1a SA2 Congenital hypomyelinating neuropathy NSW6 (PMP22, MPZ & ERG2 sequencing) Connexin 26 sequencing NSW 14 V1 Connexin 30 V1 Cowden Syndrome NSW4 NZ7 Craniosynostosis (see also FGFR tests) NSW5a NZ7 V1 Crouzon Syndrome NSW5a NZ7 Cyclin D1 overexpression V11, WA5 Cystic Fibrosis (CFTR) NZ,4*,7 NSW1,7,10,11,12*,13,14 Q2,4 SA2 V1 10
WA1 Cytochrome P450 genes CYP2D6, CYP2C9, CYP2A6, CYP3A4 NZ8 CYP2D6 polymorphism (drug polymorphism) SA6 CYP2C9 V7 Cytokine gene polymorphisms (IL6, TNF-alpha, TNF-
beta) WA3 D-bifunctional protein (peroxisomal oxidation) SA2 Deafness (Non-syndromic hearing loss & deafness)
Connexin-26 (del30G mutation)
Connexin 30
NZ7 Q2 SA1 V1(sequencing) WA1
V1 Dentatorubralpallidoluysian atrophy (DRPLA) Q2,4 SA1 V1 WA2 Denys Drash Syndrome V9 Desmoplastic small round cell tumor RT-PCR V9 Diabetes Insipidus (Neurophysin II) Q6 DNA genotyping post bone marrow engraftment Q4 V11 WA5 Drash and WAGR syndromes NZ2 Duchenne/Becker muscular dystrophy NZ4 NSW5a Q2 SA1 V1 WA2 Dystonia (DYT1 GAG deletion) SA7 WA2 E-cadherin NSW7
Emery Dreifuss Muscular Dystrophy V1 Engraftment studies post BMT Q4 Epilepsy SCN1A V14 Episodic ataxia type 2 (EA2) CACN1A gene Q3 Erb2 amplification in breast cancer NSW8 Ewings sarcoma RT-PCR V9 Fabry disease SA2 Facioscapulohumeral muscular dystrophy NSW6 WA2 Factor V (Leiden) NSW3,5a,8,10,13,14 NZ5,7 Q2,4,5 SA3,7 T1
V5,6,7,8,10,11,13 WA3(RFLP) WA5 ACT1 FALS (SOD1) - see MND Familial Adenomatous Polyposis (FAP) NZ4 NSW7 Q2 SA3 SA7 V1 WA1 Familial Amyloidotic Polyneuropathy (Transthyretin
mutations) NZ7 Familial autosomal dominant disorders Familial dysautonomia (Ashkenazi mutations) NSW10 V1 Familial defective apoB-100 NZ7 WA3 Familial glucocorticoid deficiency (FGD) See also Hypopituitarism) Q6 Familial hemiplegic migraine (FHM) CACNA1A gene Q3 Familial Hyperaldosteronism Type I NZ7 Familial Mediterranean Fever -FMF NSW11,14 SA1 WA3 Familial paraganglioma NSW4 Familial Renal Amyloidosis (fibrinogen A E526V) NZ7 Familial X-linked disorders NSW5a Fanconi anaemia NSW10 V1(Ashkenazi Jewish mutation only) Fibroblast Growth Factor Receptor Disorders See also specific disorders FGFR1 NSW5a (Exon 7) NZ7 Q2* V1(P252R) FGFR2 NSW5a (Exon 7,9,10) NZ7 Q2* V1(S252W,P253W)
WA1 FGFR3 NSW5a (Exon 7,10,13,15,19) NZ7 Q2*
V1(G380R,G375C,N540K) WA1 FMTC WA3
Fragile XA syndrome NZ3,4,6 NSW5a,11,13,14 Q2,4,5 SA1 V2,10 WA1 Fragile XE non specific XLMR SA1 Q2 Frasier Syndrome V9 Friedreichs ataxia NSW6 NZ4 Q2 SA1 V1 WA2 Galactosaemia (Q188R & N314D) NSW11 SA2 WA1 Gaucher disease SA2 Gender test (sex ambiguity only) NSW5a Q4 SA1 Gilberts disease NSW3 V10 WA3 Haemochromatosis NSW1,3,5a,7,8,10,13,14 NZ5,7 Q2,4,5 SA3,7 T1 V3,5,6,7,10,11,13 WA3,4 ACT1 Haemolytic disease of the newborn (Fetal blood group
genotyping)
RhD/d,C/c,E/e,Duffy,Kidd and Kell genotyping
V1 *Haematological Malignancies
ALL
AML/APML RARalpha rearrangements
AML FLT3 mutation analysis (D835 and ITD)
APML
Bcl-1 rearrangements NSW7 (not specified), NSW3 (various)
NSW3,8,10 NZ5 Q2 SA7 V6 V9-t(12;21) RT-PCR
NSW8 Q4 WA5*
V11
NSW3 NZ5
NSW2,3 Q4,5 SA6 ACT1 V6,10 WA5 Bcl-2 rearrangements
BCR-ABL (CML also some ALL)
PML RARa rearrangements
IgH & TCR gene rearrangements
t(8:21) & inv(16)
PVR-1 gene expression
WT-1 gene expression
JAK2
*new tests investigating haematological malignancies
are continuously becoming available. Phone the most
appropriate laboratory for further information NSW2,3,8,10 Q4,5 SA5 V5,6, 10 WA5
NSW2 NZ5 Q2,4 SA5,7 V<b><i>5,6,7,10 WA5
NSW2 NZ5 SA5,7 V6
NSW2,3,10,12 NZ5,6 Q,4,5 SA6,7 T1 V5,6,7,10,11
ACT1 WA5 NZ5
V11
V11
V10
Haemophilia A & B NZ5 NSW1 Q2 SA3 V3 WA1 Hereditary cerebral hemorrhage with amyloidosis
(Dutch type) WA2 Hereditary dysfibrinogenaemias NZ7 Hereditary fructose intolerance NSW1 Q2 WA1 Hereditary nonpolyposis colon cancer (HNPCC) NSW7 NZ5 Q2 SA3,7 WA1 V1,6,14 Hereditary pancreatitis (cationic trypsinogen mutations) NZ7 HIV drug resistance (HIV-1 reverse transcriptase &
protease gene mutations) WA3 HNPP (hereditary neuropathy with liability to pressure
palsies) NZ7 NSW6 SA1 WA2 HSMN see Charcot- Marie -Tooth neuropathy Huntingtons disease NZ4 NSW1 Q2 SA7 V1 WA4 Hyperinsulinism-hyperammonemis syndrome
(glutamate dehydrogenase 1) Q6 Hyperthermia - malignant WA2 Hypochondroplasia (FGFR3 N540K) NSW5a NSW11 NZ7 V1 Hypopituitarism, Familial Glucocorticoid Deficiency
(ACTH receptor mutation analysis) Q6 Hypopituitarism, Combined Pituitary Hormone Def.
(Pituitary Specific transcription Factor-1 POU1F1) Q6 Hypopituitarism , Combined Pituitary Hormone Def.
Prophet of Pit-1 (PROP-1) mutation analysis Q6 Incontinentia pigmenti SA1 IGF2 overgrowth disorder NZ2 Infantile neuronal lipofuscinosis SA2 Infertility
DAZ genes
CF genes NZ7 Q4, Q5(DAZ) NSW13,14(DAZ) V1(CF genes) Juvenile neuronal lipofuscinosis SA2 Kennedys disease NSW6 NZ4 Q2 SA1 V5 WA2 Krabbe disease SA2 Late-infantile neuronal lipofuscinosis SA2 LDL receptor (hypercholesterolaemia0 NZ7 Lesch-Nyhan syndrome (HGPRT) Q6 Leukaemia lymphoma associated translocations-see
Haematological malignancies Li-Fraumeni (p53) V5 Lipoprotein lipase (hypercholesterolaemia) NZ7 Long chain 3-hydroxyacyl CoA dehydrogenase
(LCHAD) NSW11 SA2 Q6 Lowes syndrome WA1 Mannose binding protein WA1 Marfan Syndrome (FBN1 mutation testing) NSW11 Maturity Onset Diabetes of the Young 1(HNF-4A) Q6 Maturity Onset Diabetes of the Young 2 (Glucokinase) Q6 Maturity Onset Diabetes of the Young 3 (HNF-1A) NZ4 Q6 McArdles syndrome WA2 Medium chain acyl CoA dehydrogenase (MCAD) NSW11 Q2 SA2 V1 WA1 Melanesian Ovalocytosis V3 Melanoma (hereditary) CDKN2A/p16 mutations NSW9 Menkes disease known family mutations V1 MEN1 V5 deletion here MEN2A (RET gene) NZ4 NSW4 V5,6 WA1,3 MEN2B (RET gene) NZ4 NSW4 V5,6 WA1,3 Metachromatic leukodystrophy SA2 Methylene tetrahydrofolate reductase see MTHFR MHC genes sequence based typing for HLA-A, HLA-
B, HLA-C, DRB1, DRB3, DRB4, DRB5, DQB1,
DPB1, MICA, Complement (C4) WA3 Microdeletions on Y chromosome NSW13 Q4 WA1 Microsatellite instability NSW1* NZ7 V5,6 SA3,7 WA1 Mitochondrial mutations including -
Lebers, Leighs
MELAS, MERRF, NARP
Kearns -Sayre, Pearsons syndromes SA7 Q2 V1 V4 WA1,2 NSW11(MELAS, MERFF
A8344G) NZ7
Motor Neuron Disease, familial (SOD1) NSW6 NZ7 WA2 MTHFR (677 C->T) NSW3,10,13 NZ7 Q4,5,6 SA7 V5,7,8,10,11 WA3,4 Mucopolysaccharidosis (MPS) - I, II, IIIA, IIIB, IVA
and VI SA2 Multiple endocrine neoplasias -see MEN MYH (colon cancer) V1 Myoclonus dystonia (SGCE) NZ4 Myotonia congenita WA2 Myotonic dystrophy NZ4 NSW6 Q2 SA1 V1 WA2 Narcolepsy- DQB1*0602 WA3 Nemaline myopathy (ACTA1) WA2 Nephrogenic/Neurohypophyseal Diabetes Incipidus
(AVPR2/AV-NPII) NZ7 Neurofibromatosis type 1 (NF1) WA2 (linkage only) Neurofibromatosis type 2 (NF2) SA3 Niemann-Pick disease type C SA2 Norrie disease Q2 Obesity Predisposition (LDLR repeat variation) Q3 Oculocutaneous albinism (OCA) WA1 Oculopharyngeal muscular dystrophy Q2 Oncogenes -
K-ras
N-myc
N-ras point mutations
RET
NSW1* NSW8
Q2,4 WA1
NSW2
NSW4 WA1,3 Ornithine transcarbamylase deficiency NSW11 Q6 V1 Parkinsons disease- synuclein gene mutations V4 Periodic paralysis Q2 WA2 Peroxisomal biogenesis defects-
Zellweger syndrome
Infantile Refsums disease
Neonatal ALD SA2 Persistent hyperinsulinaemic hypoglycaemia of infancy
(PHHI)
Sulfonylurea receptor (ABCC8)
KIR6.2 (KCNJ11) Q6 Peutz-Jeghers syndrome NSW7 WA1 Pfeiffer syndrome (see also FGFR tests) NSW5a NZ7 V1 Phenylalanine Hydroxylase deficiency - see PKU Porphyria (testing by full sequencing)
Acute intermittent porphyria (AIP)
ALA dehydrase deficiency porphyria (ALADD)
Congenital erythropoietic porphyria (CEP)
Erythropoietic protoporphyria (EPP)
Hereditary coprorphyria (HCP)
Porphyria cutanea tarda (PCT)
Variegate porphyria (VP) NSW15* Prader-Willi syndrome NZ,3,4 NSW1,11 Q2 SA1 V2 WA1 Prion disorders V5 V12 WA2 Phenylketonuria (PKU) Q2 V1 Polycythaemia Rubra Vera (PCV-1 gene expression) V11 (see also haematological malignancies) Presenilin for Alzheimers disease V5 Pressure palsy, hereditary - see Tomaculous neuropathy
Prothrombin (variant 20210 G->A) ACT1 NSW3,5a,10,13,14 NZ5,7 Q2,4,5 SA3,7 T1 V5,6,7,8,10,11,13 WA5 Pseudo-aryl sulphatase A deficiency SA2 Pseudo b-glucuronidase deficiency SA2 PTEN NSW4,7 NZ7 WA1 Pyruvate dehydrogenase (PDH) V1 Retinitis Pigmentosa
(X-linked and autosomal dominant) WA1* Retinoblastoma (RB1) NZ7 SA3 V1 WA1 (mutation detection) Rett Syndrome (MECP2) NSW11, NZ4, WA2, Q6 Rh disease SA3 V1 Rheumatoid Arthritis motif Sequencing based typing WA3 Rhizomelic chondrodysplasia punctata SA2 Saethre-Chotzen Syndrome (see also TWIST) NSW5a Sandhoff disease NSW10 Scoline apnoea (see butyrylcholinesterase genotyping) Sexing (for ambiguity) NSW5a Q4,5 SA1 Short Chain Acyl-CoA Dehydrogenase Def Q6 (Arg-171-Trp, Gly-209-Ser) SOD1 (Motor Neuron Disease) NSW6 NZ7 WA2 Spinal muscular atrophy NSW5a NZ 4, 7 SA1 V1 (diagnostic & carrier) WA2 Spinobulbar muscular atrophy - see Kennedys disease Spinocerebellar ataxia type 1 (SCA1) NZ4 NSW6 Q2 SA1 V1 WA2 Spinocerebellar ataxia type 2 (SCA2) NZ4 NSW6 Q2 SA1 V1 WA2* Spinocerebellar ataxia type 3 - Machado Joseph disease
(SCA3) NZ4 NSW6 Q2 SA1 V1 WA2 Spinocerebellar ataxia type 6 (SCA6) NZ4 NSW6 Q2,3 SA1 V1 WA2 Spinocerebellar ataxia type 7 (SCA7) NZ4 NSW6 Q2 SA1 V1 Surfactant Protein B (121ins2 mutation) NSW11 Tay-Sachs disease NSW10 SA2 (variants) V1 Testicular Feminization
Q6 Thalassaemias (& other haemoglobinopathies) NZ5,7 NSW1,3 NSW14( ) Q4* SA3 V3 WA1( ,) ACT() Tomaculous neuropathy see HNPP NZ7 NSW6 SA1 WA2 Tumor Necrosis Factor Receptor-Associated Periodic
Syndrome (TRAPS) NSW11*, 14 TWIST NSW5a (coding region) WA1 Uniparental disomy -all chromosomes NSW11 Q2 SA1 V2 NSW13 (chr 14 & 15 only) Von Hippel Lindau NSW4 SA3 WA1 Von Willebrands disease (Type 2B) NSW3 Whipples disease Trophyerema whippeli 16sRNA Q4 V4 Wilms tumor (WT-1 gene expression) V11 (see also haematological malignancies) Wiskott Aldrich NSW12 WA1 X-inactivation V1 NSW11 X-linked hydrocephalus V1 WA1 X-linked hyper IgM NSW12 X-linked hypogammaglobulinaemia (Brutons) NSW12 NZ9 WA1 X-linked lymphoproliferative disease (Duncans)
X-linked myotubular myopathy NZ9 WA1
WA2 X-SCID NSW12 WA1