Pathology Specimen Handbook

Recent changes for all departments


 Recent changes for 11p15

Recent changes for 11p15
DateFieldChanged FromChanged To
13th March 2024Preferred Specimen TypeBlood
DNA
Blood
DNA
Saliva
Preferred Container TypeEDTA Whole BloodEDTA Whole Blood
DNA Oral Swab (Special Tube - Call Laboratory)

 Recent changes for 1p/19q FISH

Recent changes for 1p/19q FISH
DateFieldChanged FromChanged To
7th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology by cytogenetics when requested by a pathologist.

Concurrent LOH testing is undertaken by the Genetics and Molecular pathology laboratory

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology by cytogenetics when requested by a pathologist.

 Recent changes for ADAMTS-13 ACTIVITY ASSAY

Recent changes for ADAMTS-13 ACTIVITY ASSAY
DateFieldChanged FromChanged To
24th January 2024Collection & Request Instructions

Please note recent change in test code to ATS13A (and ATS13AU for urgent requests) 16.10.23.

Attached form to accompany all ADAMTS-13 activity requests.

https://handbook.monashpathology.org/downloads/haem/FOR-HE-147.pdf

Non CMBS test

Please note recent change in test code to ATS13A (and ATS13AU for urgent requests) 16.10.23.

Attached form to accompany all ADAMTS-13 activity requests.

https://monashpathology.org/wp-content/uploads/2024/01/FOR-HE-147.pdf

Non CMBS test

 Recent changes for ADENOVIRUS SEROLOGY

Recent changes for ADENOVIRUS SEROLOGY
DateFieldChanged FromChanged To
19th December 2023Volume (Adults)5 mL0 mL
Minimum/Paediatric Volume1 mL0 mL
Preferred Specimen TypeBloodTest Not Available
Preferred Container TypeSerum - Gel tube - Contains Clot ActivatorTest Not Available
Collection & Request Instructions

Collect convalescent bleed 14 days after acute sample

 

Retesting is not required within 7 days.

FrequencyWeeklyNot applicable

 Recent changes for ALK FISH

Recent changes for ALK FISH
DateFieldChanged FromChanged To
7th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology by cytogenetics when requested by a pathologist if indicated following ALK IHC testing.

If IHC is 3+, ALK FISH testing will be performed concurrently with EGFR testing by the Genetics and Molecular pathology laboratory. If IHC is less than 3, ALK FISH testing will only be undertaken if EGFR result is negative.

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology by cytogenetics when requested by a pathologist if indicated following ALK IHC testing.

 

 Recent changes for AMINO METHYL PROPANOIC ACID RECEPTOR ANTIBODY

Recent changes for AMINO METHYL PROPANOIC ACID RECEPTOR ANTIBODY
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for AMYLOID A

Recent changes for AMYLOID A
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for Amyotrophic lateral sclerosis gene panel

Recent changes for Amyotrophic lateral sclerosis gene panel
DateFieldChanged FromChanged To
13th March 2024Assay nameDNA - SCN1AAmyotrophic lateral sclerosis gene panel
Alternative namesSCN1A - DNAALS, Motor neuron disease, MND, Lou Gehrig's Disease

 Recent changes for ANTI ENA ANTIBODIES

Recent changes for ANTI ENA ANTIBODIES
DateFieldChanged FromChanged To
1st November 2023Request GroupENAABENAAB2

 Recent changes for ANTI GQ1b ANTIBODIES

Recent changes for ANTI GQ1b ANTIBODIES
DateFieldChanged FromChanged To
18th April 2024Collection & Request Instructions

CSF: minimum volume of 0.5mL

Please note CSF testing for GQ1b autoantibodies is not currently available in Australia.

 Recent changes for ANTI LIVER KIDNEY MICROSOMAL ANTIBODIES

Recent changes for ANTI LIVER KIDNEY MICROSOMAL ANTIBODIES
DateFieldChanged FromChanged To
1st November 2023Request GroupLKMABLKMAB2

 Recent changes for ANTI MITOCHONDRIAL ANTIBODIES

Recent changes for ANTI MITOCHONDRIAL ANTIBODIES
DateFieldChanged FromChanged To
1st November 2023Request GroupMABMAB2

 Recent changes for ANTI NEUTROPHIL CYTOPLASMIC ANTIBODIES

Recent changes for ANTI NEUTROPHIL CYTOPLASMIC ANTIBODIES
DateFieldChanged FromChanged To
1st November 2023Request GroupANCAANCA2

 Recent changes for ANTI NUCLEAR ANTIBODIES

Recent changes for ANTI NUCLEAR ANTIBODIES
DateFieldChanged FromChanged To
1st November 2023Request GroupANAANA2

 Recent changes for ANTI PHOSPHOLIPASE A2 RECEPTOR ANTIBODIES

Recent changes for ANTI PHOSPHOLIPASE A2 RECEPTOR ANTIBODIES
DateFieldChanged FromChanged To
1st November 2023Request GroupPLA2RPLA2AB

 Recent changes for ANTI SKIN ANTIBODIES - ELISA PANEL

Recent changes for ANTI SKIN ANTIBODIES - ELISA PANEL
DateFieldChanged FromChanged To
28th December 2023Alternative namesDermatology Profile ELISA
Volume (Adults)5 mL1 mL
Minimum/Paediatric Volume0.80 mL0.5 mL

 Recent changes for ANTI SMOOTH MUSCLE ANTIBODIES

Recent changes for ANTI SMOOTH MUSCLE ANTIBODIES
DateFieldChanged FromChanged To
1st November 2023Request GroupSMABSMAB2

 Recent changes for BCR ABL TRANSLOCATION GENE REARRANGEMENT

Recent changes for BCR ABL TRANSLOCATION GENE REARRANGEMENT
DateFieldChanged FromChanged To
28th December 2023Collection & Request Instructions

Please collect via butterflies instead of a vacutainer as there is a possible backflow of the liquid inside the PAXgene if vacutainer is used. Samples can be collected at any time.(Monday-Sunday).

Please ensure that blood for molecular testing for BCRABL is collected in a separate dedicated sterile tube. Molecular specimens must NOT be put through any analysers. If unsure please call the Genetics and Molecular Pathology laboratory.

Tube handling must be minimized to prevent contamination.

Please collect an additional 9mL EDTA whole blood sample. Register as "spare" and send to GMP.

Folloing instructions are only for EDTA collections:

For EDTA tubes collections between Friday 2:30pm and Sunday 12pm must be avoided.

EDTA specimens collected after 12pm on Sundays must be stored at room temperature.

EDTA specimens more than 24 hours old cannot be tested and a recollection will be requested. Sample in Paxgene tube is viable for 3 days at room temparature.  

For EDTA collections that occur externally to the Clayton site, please ensure that specimens reach the Clayton laboratory by 3pm if collected on Fridays.

PAXgene collections: collect via butterflies instead of a vacutainer due to the possible backflow of liquid inside the PAXgene if a vacutainer is used. 

Collections for BCR ABL testing must be collected in a separate dedicated sterile tube and must NOT be put through any analysers. 

Tube handling must be minimized to prevent contamination.

If using a PAXgene tube also collect an additional 9mL EDTA whole blood sample. If PAXgene tubes are not available then collect 1 x 9mL EDTA tube.

Test must be performed within 48 hours of specimen collection. Do not collect blood for this test on days preceding public holidays. Collections on Fridays must arrive at the Clayton laboratory by 2pm and samples collected after this or on a Saturday will not be accepted.

Test requests for rare translocations are referred to SA Pathology and these samples must be accompanied by a completed referral form, link below:

https://www.sapathology.sa.gov.au/testcatfiles/PUB-0556.pdf

 

 

28th December 2023Assay nameBCRABLBCR ABL TRANSLOCATION GENE REARRANGEMENT
Alternative namesBCR-ABL, t(9:22), Philadelphia translocation, quantitative BCR-ABL, p210, p190, BCR, BCR-ABL-PCR.BCR ABL, t(9:22), Philadelphia translocation, quantitative BCR ABL, p210, p190, BCR, BCR ABL PCR, qualitative BCR ABL

 Recent changes for BCR ABL TYROSINE KINASE DOMAIN MUTATION ANALYSIS

Recent changes for BCR ABL TYROSINE KINASE DOMAIN MUTATION ANALYSIS
DateFieldChanged FromChanged To
28th December 2023Collection & Request Instructions

Samples must be collected in a separate dedicated sterile tube and must NOT be put through any analysers.

Tube handling must be minimized to prevent contamination.

Sample processing must be commenced within 48 hours of specimen collection. Do not collect blood or bone marrow for this test on days preceding public holidays. Collections on Fridays must arrive at the Clayton laboratory by 2pm and samples collected after this or on a Saturday will not be accepted. 

Samples must be accompained by a completed referral form, link below:

https://www.sapathology.sa.gov.au/testcatfiles/PUB-0556.pdf

 Recent changes for BIOTINIDASE

Recent changes for BIOTINIDASE
DateFieldChanged FromChanged To
24th November 2023Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

Note this test is for BIOTINIDASE not BIOTIN and requires by Chemical Pathologist - please call 9594 4551 for approval.

At least 2 filled blood spot circles.

EDTA whole blood may be used to fill the Guthrie card spots as an alternative collection.

Biotinidase CANNOT share a Guthrie card. Collect separate cards for Acylcarnitine or Amino Acids if required.

Note this test is not for BIOTIN. Biotinidase and Biotin are two different tests. Biotinidase is a Send-away test. 

Both tests require approval by Chemical Pathologist/Registrar - please call 9594 4551. 

Please fill at least 2 blood spot circles on the Guthrie card. 

EDTA whole blood may be used to fill the Guthrie card spots as an alternative collection.

Biotinidase CANNOT share a Guthrie card with any other tests. If acylcarnitine or Amino Acids are also requested,  collect separate cards. 

24th November 2023Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
24th November 2023Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for BK VIRUS PCR

Recent changes for BK VIRUS PCR
DateFieldChanged FromChanged To
24th November 2023Assay namePOLYOMAVIRUS PCRBK VIRUS PCR
Alternative namesBK VIRUS PCR, JC VIRUS PCRPolyomavirus PCR
Request GroupBKDNA1BKPCR
Optional Specimen TypeCerebro Spinal Fluid (CSF)
Urine
Tissue - Fresh
Optional Container TypeCSF Sterile Tubes
Sterile Container
Collection & Request Instructions

Other specimen type: 0.5 mL CSF or Brain tissue.

Blood samples requires a dedicated blood tube

Retesting is not required within 7 days.

 

BKV PCR is performed in-house on PPT plasma only

All other specimen types are referred to VIDRL under send-away procedure 'BKDNA1'

JC PCR is also referred to VIDRL under send-away code 'BKDNA1'

Retesting is not required within 7 days.

 

FrequencyWeeklyMon-Fri

 Recent changes for BRCA1

Recent changes for BRCA1
DateFieldChanged FromChanged To
8th March 2024Assay nameBREAST CANCER, TYPE 1 - DNA ANALYSISBRCA1
Alternative namesBRCA1BREAST CANCER, BRCA
Minimum/Paediatric Volumenull mL

 Recent changes for BRCA2

Recent changes for BRCA2
DateFieldChanged FromChanged To
8th March 2024Alternative namesBREAST CANCER 2, EARLY ONSETBREAST CANCER, BRCA
Minimum/Paediatric Volumenull mL
8th March 2024Assay nameBREAST CANCER 2, EARLY - ONSET - DNA ANALYSISBRCA2
Alternative namesBRCA2BREAST CANCER 2, EARLY ONSET
Minimum/Paediatric Volumenull mL

 Recent changes for C1 ESTERASE INHIBITOR

Recent changes for C1 ESTERASE INHIBITOR
DateFieldChanged FromChanged To
6th November 2023LaboratoryBiochemistryImmunology

 Recent changes for C1Q

Recent changes for C1Q
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for CADASIL syndrome

Recent changes for CADASIL syndrome
DateFieldChanged FromChanged To
12th March 2024Assay nameCADASIL (DNA)CADASIL syndrome
Alternative namesNOTCH 3 (DNA), DNA - NOTCH 3, DNA - CADASILNOTCH 3 gene mutation analysis, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Minimum/Paediatric Volumenull mL

 Recent changes for Cardiomyopathy screening

Recent changes for Cardiomyopathy screening
DateFieldChanged FromChanged To
13th March 2024Assay nameMYH7 GENECardiomyopathy screening
Alternative namesMUTYH7 GENE, DNA - MYH7BAG3, MYBPC3, MYH7, TNNT2

 Recent changes for CD62L

Recent changes for CD62L
DateFieldChanged FromChanged To
12th April 2024Volume (Adults)6 mL9 mL
Minimum/Paediatric Volume6 mL9 mL
11th April 2024Volume (Adults)5 mL6 mL
Minimum/Paediatric Volume1 mL6 mL
Preferred Container TypeHeparin Whole Blood (No Gel) and EDTAACD Tube
Collection & Request Instructions

Tuesdays early mornings only.

Specimen must be collected by 8.30am and sent immediately to Pathology Reception for courier to reach The Royal Children's Hospital before 11am on Tuesdays only.

Tuesdays early mornings only.

Specimen must be collected by 8.30am and sent immediately to Pathology Reception for courier to reach The Royal Children's Hospital before 11am on Tuesdays only. 

 Recent changes for CDKN1C

Recent changes for CDKN1C
DateFieldChanged FromChanged To
12th March 2024Alternative namesp57KIP2, Image syndrome, CDKN1C BWSp57KIP2, Image syndrome, BWS, Beckwith-Wiedemann Syndrome

 Recent changes for CH50

Recent changes for CH50
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for CHROMOSOME BREAKAGE STUDIES

Recent changes for CHROMOSOME BREAKAGE STUDIES
DateFieldChanged FromChanged To
7th March 2024Assay nameCHROMOSOME BREAKAGE STUDIES - FANCONI ANAEMIA/ATAXIA TELANGIECTASIACHROMOSOME BREAKAGE STUDIES

 Recent changes for CHROMOSOME STUDIES - BLOOD (CONSTITUTIONAL)

Recent changes for CHROMOSOME STUDIES - BLOOD (CONSTITUTIONAL)
DateFieldChanged FromChanged To
7th March 2024Alternative namesKARYOTYPE - BLOODKARYOTYPE - BLOOD, G-band

 Recent changes for CHROMOSOME STUDIES - AMNIOTIC FLUID

Recent changes for CHROMOSOME STUDIES - AMNIOTIC FLUID
DateFieldChanged FromChanged To
7th March 2024Minimum/Paediatric Volumenull mL
7th March 2024Alternative namesKARYOTYPE - AMNIOTIC FLUID, KARYOTYPE - LIQUOR, CHROMOSOME STUDIES - LIQUOR, MICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE, CMA - AMNIO, FISHKARYOTYPE - AMNIOTIC FLUID, KARYOTYPE - LIQUOR, CHROMOSOME STUDIES - LIQUOR, MICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE, CMA - AMNIO, 5-PROBE FISH
Minimum/Paediatric Volumenull mL
10th January 2024Alternative namesKARYOTYPE - AMNIOTIC FLUID, KARYOTYPE - LIQUOR, CHROMOSOME STUDIES - LIQUOR, MICROARRAY, MOLECULAR KARYOTYPE, CMA - AMNIO, FISHKARYOTYPE - AMNIOTIC FLUID, KARYOTYPE - LIQUOR, CHROMOSOME STUDIES - LIQUOR, MICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE, CMA - AMNIO, FISH
Minimum/Paediatric Volumenull mL

 Recent changes for CHROMOSOME STUDIES - CHORIONIC VILLUS (CVS)

Recent changes for CHROMOSOME STUDIES - CHORIONIC VILLUS (CVS)
DateFieldChanged FromChanged To
7th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
7th March 2024Alternative namesKARYOTYPE - CHORIONIC VILLUS (CVS), MICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE, CMA - CVS, FISHKARYOTYPE - CHORIONIC VILLUS (CVS), MICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE, CMA - CVS, 5-PROBE FISH
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
10th January 2024Alternative namesKARYOTYPE - CHORIONIC VILLUS (CVS), MICROARRAY, MOLECULAR KARYOTYPE, CMA - CVS, FISHKARYOTYPE - CHORIONIC VILLUS (CVS), MICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE, CMA - CVS, FISH
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for CHROMOSOME STUDIES - TISSUE NON MALIGNANT

Recent changes for CHROMOSOME STUDIES - TISSUE NON MALIGNANT
DateFieldChanged FromChanged To
10th January 2024Alternative namesKARYOTYPE, CHROMOSOME STUDIES, MICROARRAY, MOLECULAR KARYOTYPEKARYOTYPE, CHROMOSOME STUDIES, MICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for CJD TESTING

Recent changes for CJD TESTING
DateFieldChanged FromChanged To
21st November 2023Preferred Container TypeCSF Sterile TubesCJD testing
8th November 2023Volume (Adults)2 mL2.5 mL
Minimum/Paediatric Volume2 mL2.5 mL
Collection & Request Instructions

Specimen requirements for gene testing are listed under PRION PROTEIN GENE testing.

Obtain a National Dementia Diagnostics Laboratory (NDDL)
Cerebrospinal Fluid (CSF) Specimen Data Sheet form and CJD tube from Microbiology Clayton.

A miminum volume of 2.5ml is required. 

CSF must be clear and colourless and NOT spun

 

Specimen requirements for gene testing are listed under PRION PROTEIN GENE testing.

1st November 2023Assay name14-3-3 PROTEIN CSF TESTCJD TESTING
Alternative namesCJD, PRION PROTEIN, Creutzfeldt Jacob Disease, Tau Protein TestCJD, PRION PROTEIN, Creutzfeldt Jacob Disease, Tau Protein Test, RT QuIC ASSAY

 Recent changes for CMV PCR

Recent changes for CMV PCR
DateFieldChanged FromChanged To
12th December 2023Preferred Container TypePPT
EDTA Whole Blood
PPT
EDTA Whole Blood
Sterile Yellow Top Container
Collection & Request Instructions

Collect blood in a PPT tube (in separate sterile tube) for adults and in an EDTA paediatric tube for neonates, Urine, Saliva Swab (under tongue), Eye Swab, Amniotic Fluid. 200ul of CSF(neat sample preferred as supernatant fluid is less sensitive).

Collect blood in a dedicated PPT tube  for adults and in an EDTA paediatric tube for neonates

200ul of CSF(neat sample preferred as supernatant fluid is less sensitive).

Collect Saliva Swab under tongue

FrequencyDailyMon-Fri

 Recent changes for COMPLEMENT FACTOR H

Recent changes for COMPLEMENT FACTOR H
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for COMPLEMENT FACTOR I

Recent changes for COMPLEMENT FACTOR I
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for CONNEXIN/DFNB1

Recent changes for CONNEXIN/DFNB1
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - CONNEXIN, DEAFNESSCONNEXIN/DFNB1
Alternative namesCONNEXIN-26 (GJB2) and CONNEXIN-30 (GJB6)- DEAFNESSCONNEXIN-26, GJB2, CONNEXIN-30, GJB6, DEAFNESS

 Recent changes for Cystic Fibrosis

Recent changes for Cystic Fibrosis
DateFieldChanged FromChanged To
12th March 2024Assay nameCYSTIC FIBROSIS - DNA ANALYSISCystic Fibrosis
Alternative namesVCF DELETION SCREEN, DELTA F508, CF GENE, DNA - CF GENECF, CFTR gene mutation analysis

 Recent changes for CYTOGENETICS - TISSUE NON TUMOUR

Recent changes for CYTOGENETICS - TISSUE NON TUMOUR
DateFieldChanged FromChanged To
8th March 2024Assay nameCYTOGENETICS - TISSUE NON MALIGNANT (CONSTITUTIONAL)CYTOGENETICS - TISSUE NON TUMOUR
Alternative namesKARYOTYPE-Tissue/Products of Conception (POC), CHROMOSOME STUDIES - Tissue, TISSUE CULTURE, MOLECULAR KARYOTYPE, MICROARRAY-Tissue, PRODUCTS OF CONCEPTION (POC)KARYOTYPE-Tissue/Products of Conception (POC), CHROMOSOME STUDIES - Tissue, TISSUE CULTURE, MOLECULAR KARYOTYPE, MICROARRAY-Tissue, PRODUCTS OF CONCEPTION (POC), DNA STORAGE - Tissue
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Preferred Specimen TypeTissue - FreshPlacental tissue
Cord tissue
Fetal skin
Preferred Container TypeSterile Yellow Top ContainerSterile Yellow Top Container
Large white bucket
7th March 2024Alternative namesKARYOTYPE, CHROMOSOME STUDIES - TISSUE, TISSUE CULTURE, MOLECULAR KARYOTYPE, MICROARRAY (Cytogenetics)KARYOTYPE-Tissue/Products of Conception (POC), CHROMOSOME STUDIES - Tissue, TISSUE CULTURE, MOLECULAR KARYOTYPE, MICROARRAY-Tissue, PRODUCTS OF CONCEPTION (POC)
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
10th January 2024Alternative namesKARYOTYPE, CHROMOSOME STUDIES - TISSUE, TISSUE CULTURE, MOLECULAR KARYOTYPE, MICROARRAYKARYOTYPE, CHROMOSOME STUDIES - TISSUE, TISSUE CULTURE, MOLECULAR KARYOTYPE, MICROARRAY (Cytogenetics)
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for DNA Storage

Recent changes for DNA Storage
DateFieldChanged FromChanged To
13th March 2024Assay nameMiscellaneous molecularDNA Storage
Alternative namesDNA store, DNA extraction and store, DNA storageDNA extraction and store, DNA store
12th January 2024Alternative namesDNA store, DNA extraction and store.DNA store, DNA extraction and store, DNA storage

 Recent changes for Duchenne/Becker muscular dystrophy

Recent changes for Duchenne/Becker muscular dystrophy
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - DUCHENNE / BECKER MUSCULAR DISTROPHYDuchenne/Becker muscular dystrophy
Alternative namesDUCHENNE / BECKER MUSCULAR DISTROPHYDMD
Minimum/Paediatric Volumenull mL

 Recent changes for DYT1 dystonia

Recent changes for DYT1 dystonia
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - DYT1 MUTATIONDYT1 dystonia
Alternative namesDYT1 MUTATIONTOR1A
Minimum/Paediatric Volumenull mL

 Recent changes for ESTRADIOL (REFERRED SENSITIVE LCMS METHOD)

Recent changes for ESTRADIOL (REFERRED SENSITIVE LCMS METHOD)
DateFieldChanged FromChanged To
24th April 2024Alternative namesE2MS, E2 BY LCMSE2MS, E2 BY LCMS, OESTRADIOL BY LCMS, OESTRADIOL

 Recent changes for Exome Sequencing (VCGS)

Recent changes for Exome Sequencing (VCGS)
DateFieldChanged FromChanged To
12th March 2024Assay nameEXOMEExome Sequencing (VCGS)
Alternative namesEXOME at VCGSEXOME

 Recent changes for FAECES FOR FAT GLOBULES AND/OR FATTY ACID CRYSTALS

Recent changes for FAECES FOR FAT GLOBULES AND/OR FATTY ACID CRYSTALS
DateFieldChanged FromChanged To
8th February 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Preferred Specimen TypeFaecesSpecimen not required
Preferred Container TypeFaeces potTest Not Available
Collection & Request Instructions

Random specimen

FrequencyOn requestNot applicable

 Recent changes for Familial Adenomatous Polyposis Coli

Recent changes for Familial Adenomatous Polyposis Coli
DateFieldChanged FromChanged To
12th March 2024Alternative namesFAP, FAP panel, Colorectal panel, Polyps panelFAP, FAP panel, Colorectal panel, Polyps panel, APC gene mutation analysis
Minimum/Paediatric Volumenull mL
12th March 2024Assay nameDNA - FAMILIALADENOMATOUS POLYPOSIS COLI (FAP)Familial Adenomatous Polyposis Coli
Alternative namesFAMILIALADENOMATOUS POLYPOSIS - DNA, FAP - DNA, DNA - FAPFAP, FAP panel, Colorectal panel, Polyps panel
Minimum/Paediatric Volumenull mL

 Recent changes for Familial Hemiplegic Migraine Type 1

Recent changes for Familial Hemiplegic Migraine Type 1
DateFieldChanged FromChanged To
12th March 2024Assay nameHEMIPLEGIC MIGRAINE - DNAFamilial Hemiplegic Migraine Type 1
Alternative namesFAMILIAL HEMIPLEGIC MIGRAINE - DNA, DNA - HEMIPLEGIC MIGRAINE, DNA - FAMILIAL HEMIPLEGIC MIGRAINEFHM, HM, CACNA1A gene mutation analysis
Minimum/Paediatric Volumenull mL

 Recent changes for Familial Hypercholesterolaemia Gene Panel

Recent changes for Familial Hypercholesterolaemia Gene Panel
DateFieldChanged FromChanged To
12th March 2024Alternative namesHereditary hypercholesterolaemia, Familial Hypercholesterolaemia DNA testing, LDLR, APOB, PCSK9LDLR, APOB, PCSK9, ApoB-100, FH, hereditary hypercholesterolaemia

 Recent changes for Familial Mediterranean Fever

Recent changes for Familial Mediterranean Fever
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - FAMILIAL MEDITERRANEAN FEVERFamilial Mediterranean Fever
Alternative namesFamilial Mediterranean fever, MEFV GeneMEFV gene mutation analysis, FMF, periodic fever

 Recent changes for FISH TEST - BLOOD

Recent changes for FISH TEST - BLOOD
DateFieldChanged FromChanged To
7th March 2024Assay nameFISH TEST - BLOOD (CONSTITUTIONAL)FISH TEST - BLOOD
Alternative namesCRI DU CHAT, DIGEORGE/VELOCARDIOFACIAL(VCF), 22Q11.2, ELASTIN-WILLIAM, SMITH-MAGENIS, WOLF-HIRSCHHORN, 22Q13, MILLER-DIEKER, MicrodeletionDIGEORGE/VELOCARDIOFACIAL(VCF), 22Q11.2, DOWN SYNDROME/TRISOMY 21, SRY

 Recent changes for Foetus PM

Recent changes for Foetus PM
DateFieldChanged FromChanged To
29th November 2023Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

A deceased foetus is taken to the cool room in the mortuary.

Paperwork required is:

1) Notification of Death

2) SIGNED Death Certificate.

3) Request for non-Coronial Post Mortem Examination form

4) Referral for Post Mortem form

 Recent changes for Friedreich ataxia

Recent changes for Friedreich ataxia
DateFieldChanged FromChanged To
12th March 2024Optional Container TypeSterile Yellow Top Container
12th March 2024Assay nameDNA - FRIEDREICH ATAXIAFriedreich ataxia
Alternative namesFRIEDREICH ATAXIA DNAFXN gene mutation analysis
Optional Specimen TypeAmniotic Fluid
Chorionic Villus Sample (CVS)

 Recent changes for Fundamental DNA panel

Recent changes for Fundamental DNA panel
DateFieldChanged FromChanged To
12th March 2024Alternative namesTST15, 15 Gene Panel, Next Generation Sequencing (NGS), Solid tumour gene panel, BRAF, H3K27M, IDH1, IDH2, KRAS, NRASTST15, 15 Gene Panel, Next Generation Sequencing (NGS), Solid tumour gene panel, BRAF, BRAF V600E, H3K27M, IDH1, IDH2, KRAS, NRAS
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
8th March 2024Assay nameNGS Targeted DNA Panel (15 Genes)Fundamental DNA panel
Alternative namesTST15, 15 Gene Panel, Next Generation Sequencing (NGS), Solid tumour gene panelTST15, 15 Gene Panel, Next Generation Sequencing (NGS), Solid tumour gene panel, BRAF, H3K27M, IDH1, IDH2, KRAS, NRAS
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for GALACTOMANNAN

Recent changes for GALACTOMANNAN
DateFieldChanged FromChanged To
22nd November 2023FrequencyWeeklyTuesday
Friday

 Recent changes for Gilbert's Syndrome Genotyping

Recent changes for Gilbert's Syndrome Genotyping
DateFieldChanged FromChanged To
12th March 2024Assay nameGILBERTS DNAGilbert's Syndrome Genotyping
Alternative namesDNA - GILBERTSUGT1A1 gene mutation analysis
Minimum/Paediatric Volumenull mL

 Recent changes for GLUT1 deficiency syndrome 1

Recent changes for GLUT1 deficiency syndrome 1
DateFieldChanged FromChanged To
12th March 2024Assay nameGLUT1GLUT1 deficiency syndrome 1
Alternative namesDNA - GLUT1Aortopathy panel, Cardiac panel

 Recent changes for HER2 FISH

Recent changes for HER2 FISH
DateFieldChanged FromChanged To
7th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
7th March 2024Alternative namesTUMOUR FISH
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology by cytogenetics when requested by a pathologist.

Testing is performed in cases where IHC is 2+.

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology by cytogenetics when requested by a pathologist.

 

 Recent changes for HIGH SENSITIVITY B CELLS

Recent changes for HIGH SENSITIVITY B CELLS
DateFieldChanged FromChanged To
8th April 2024Collection & Request Instructions

Sample must be collected on Mon-Thurs only.  (Not on a public holiday or public holiday eve).

Sample must be received at the Royal Children's Hospital within 24 hours of collection.

Please collect an EDTA (2mL minimum) sample if no FBE tube is collected at the same time.

A single Heparin Whole Blood (no gel) tube (5mL adult / 2mL minimum) is sufficient to cover the following tests sent to RCH:

- High Sensitivity B cells

- HLA-DR expression

- Th17 cells

- T follicular helper cells (Tfh)

A separate Heparin Whole Blood (no gel) tube is required for the following tests:

- Lymphocyte Subsets (CD4 count) (collect Mon-Sat) - Performed in-house

- Double Negative T-cells (DNT)  (collect Mon-Sat) - Performed in-house

- Memory B-cells (collect Mon-Sat) - Performed in-house

- Naive T-cells  (collect Mon-Sat) - Performed in-house

- T-regulatory cells  (collect Mon-Sat) - Performed in-house

- T cell proliferation (collect between 3pm on Mon to 830am on Tues) - Sent to RCH on Tuesdays only.

Sample must be collected after midday on Mon-Thurs only (avoid collection on a public holiday or public holiday eve).

Sample must be received at the Royal Children's Hospital within 24 hours of collection.

Please collect an EDTA (2mL minimum) sample if no FBE tube is collected at the same time.

A single Heparin Whole Blood (no gel) tube (5mL adult / 2mL minimum) is sufficient to cover the following tests sent to RCH:

- High Sensitivity B cells

- HLA-DR expression

- Th17 cells

- T follicular helper cells (Tfh)

A separate Heparin Whole Blood (no gel) tube is required for the following tests:

- Lymphocyte Subsets (CD4 count) (collect Mon-Sat) - Performed in-house

- Double Negative T-cells (DNT)  (collect Mon-Sat) - Performed in-house

- Memory B-cells (collect Mon-Sat) - Performed in-house

- Naive T-cells  (collect Mon-Sat) - Performed in-house

- T-regulatory cells  (collect Mon-Sat) - Performed in-house

- T cell proliferation (collect between 3pm on Mon to 830am on Tues) - Sent to RCH on Tuesdays only.

 Recent changes for HLA-B27

Recent changes for HLA-B27
DateFieldChanged FromChanged To
26th March 2024Collection & Request Instructions

Please collect 2x3mL EDTA tubes for adults and children for HLA-B27.  This test requires separate tubes and cannot be added onto an FBE tube.

Note that the Lithium Heparin tube indicated in EMR and in Medipath is out of date (as of 01/01/2023).  A request for these to be updated has been logged.  If a lithium heparin tube has been collected, please send to Immunology.  For further clarification, please contact the Immunology lab on 9594 3587 (x43587).

For Coeliac Disease HLA typing (HLADQ2 / HLADQ8), refer to COELIAC GENETIC TEST.

For HLA Tissue Typing (Transplant patients), refer to entry HLA TISSUE TYPING (TRANSPLANT PATIENTS)

For other HLA typing (including HLA B57), refer to entry HLA TYPING.

For Coeliac Disease HLA typing (HLADQ2 / HLADQ8), refer to COELIAC GENETIC TEST.

For HLA Tissue Typing (Transplant patients), refer to entry HLA TISSUE TYPING (TRANSPLANT PATIENTS)

For other HLA typing (including HLA B57), refer to entry HLA TYPING.

14th February 2024Assay nameB27HLA-B27
Request GroupB27SAIB27

 Recent changes for IGD

Recent changes for IGD
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for JAK2 Exon 14

Recent changes for JAK2 Exon 14
DateFieldChanged FromChanged To
12th March 2024Assay nameJAKMPJAK2 Exon 14
Alternative namesJAK2, JAK2 V617F, JAK2 mutation, JAK2 exon 14, JAK2-PCR.JAK2, JAK2 V617F, JAK2 mutation, JAK2 PCR
Collection & Request Instructions

Please collect the specimen in a separate tube. The specimen must not be used for other testing. This is a DNA test and removal of specimen for other tests may cause the specimen to become contaminated. The same tube can be used for the JAK2 ex 12 test.

 

Please collect the specimen in a separate tube. The specimen must not be used for other testing. This is a DNA test and removal of specimen for other tests may cause the specimen to become contaminated. The same tube can be used for the JAK2 exon 12 test.

 

 Recent changes for JC PCR

Recent changes for JC PCR
DateFieldChanged FromChanged To
17th January 2024Alternative namesPolyomavirus PCRPolyomavirus PCR JCV PCR

 Recent changes for JC Virus ( Stratify Trial)

Recent changes for JC Virus ( Stratify Trial)
DateFieldChanged FromChanged To
18th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
18th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for KARYOTYPE - TISSUE/PRODUCTS OF CONCEPTION (POC)

Recent changes for KARYOTYPE - TISSUE/PRODUCTS OF CONCEPTION (POC)
DateFieldChanged FromChanged To
10th January 2024Alternative namesMICROARRAY, MOLECULAR KARYOTYPEMICROARRAY (Cytogenetics), MOLECULAR KARYOTYPE
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for METHYLMALONIC ACID (SERUM)

Recent changes for METHYLMALONIC ACID (SERUM)
DateFieldChanged FromChanged To
12th January 2024Collection & Request InstructionsCollect specimens on ice
Collection & Request Instructions

Please phone Chemical Pathology Registrar on (03) 9594 4551 for test request approval.

 Recent changes for MGMT promoter methylation studies

Recent changes for MGMT promoter methylation studies
DateFieldChanged FromChanged To
18th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
13th March 2024Assay nameMGMTMGMT promoter methylation studies
Alternative namesMGMT promoter methylation, MGMT methylation.
Request GroupGMPTRANMISCGEN
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for Mitochondrial - nuclear DNA

Recent changes for Mitochondrial - nuclear DNA
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - POLGMitochondrial - nuclear DNA
Alternative namesPOLG DNAPOLG gene, SURF1 gene, mitochondrial disease

 Recent changes for MND/SMA panel

Recent changes for MND/SMA panel
DateFieldChanged FromChanged To
12th March 2024Alternative namesSOD-1 gene mutation analysisSOD1 gene mutation analysis, Motor neuron disease, IPOA
Minimum/Paediatric Volumenull mL
12th March 2024Assay nameDNA - SOD-1 (FOR FAMILIAL MND)MND/SMA panel
Alternative namesSOD-1 (FOR FAMILIAL MND)SOD-1 gene mutation analysis
Minimum/Paediatric Volumenull mL

 Recent changes for MODY Panel

Recent changes for MODY Panel
DateFieldChanged FromChanged To
13th March 2024Alternative namesMaturity Onset Diabetes in the Young
Request GroupGMPTRANMISCGEN

 Recent changes for MOLECULAR KARYOTYPE (Blood/ Saliva)

Recent changes for MOLECULAR KARYOTYPE (Blood/ Saliva)
DateFieldChanged FromChanged To
8th March 2024Alternative namesMICROARRAY, ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIES, HNPP, PMP22, CMT1AMICROARRAY, ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIES, HNPP, PMP22, CMT1A, HNF1B
8th March 2024Alternative namesMICROARRAY, ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIESMICROARRAY, ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIES, HNPP, PMP22, CMT1A
7th March 2024Alternative namesMICROARRAY (Cytogenetics), ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIESMICROARRAY, ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIES
10th January 2024Alternative namesMICROARRAY(Cytogenetics), ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIESMICROARRAY (Cytogenetics), ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIES
10th January 2024Alternative namesMICROARRAY(Cytogenetics, Blood/Saliva), ARRAY(Blood/Saliva), SNP MICROARRAY(Cytogenetics, Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIESMICROARRAY(Cytogenetics), ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIES
10th January 2024Alternative namesMICROARRAY(Blood/Saliva), ARRAY(Blood/Saliva), SNP MICROARRAY(Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIESMICROARRAY(Cytogenetics, Blood/Saliva), ARRAY(Blood/Saliva), SNP MICROARRAY(Cytogenetics, Blood/Saliva), MOLECULAR KARYOTYPE, CMA, PARENTAL/FAMILY SEGREGATION STUDIES

 Recent changes for Motor neuron disease gene panel

Recent changes for Motor neuron disease gene panel
DateFieldChanged FromChanged To
13th March 2024Assay nameMND DNAMotor neuron disease gene panel
Alternative namesDNA - MNDWES, Exome Next generation sequencing, Motor neurone disease, ALS, Amyotrophic lateral sclerosis, ALS, MND, Lou Gehrig's Disease
Minimum/Paediatric Volumenull mL

 Recent changes for Multiple Endocrine Neoplasia Type 1

Recent changes for Multiple Endocrine Neoplasia Type 1
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - MULTIPLE ENDOCRINE NEOPLASIA TYPE 1Multiple Endocrine Neoplasia Type 1
Alternative namesMEN-1, HYPERPARATHYROID INSULOMA GENEMEN-1, Hyperparathyroid Insuloma gene, Wermer Syndrome Genetic Analysis, Menin genetic analysis, Familial One panel, Endocrine panel

 Recent changes for Myeloid NGS gene panel

Recent changes for Myeloid NGS gene panel
DateFieldChanged FromChanged To
12th March 2024Alternative namesMPN panel, acute myeloid leukemia, AML, Myeloid fibrosis, ET, PRV, CALR, JAK2 exon 12, MPLMPN panel, acute myeloid leukemia, AML, Myeloid fibrosis, ET, PRV, CALR, Calreticulin, JAK2 exon 12, MPL
8th March 2024Alternative namesMPN panel, acute myeloid leukemia, AML, Myeloid fibrosis, ET, PRVMPN panel, acute myeloid leukemia, AML, Myeloid fibrosis, ET, PRV, CALR, JAK2 exon 12, MPL
Collection & Request Instructions

Samples collected close of business Friday or prior to public holidays, store 4C.

Samples collected close of business Friday or prior to public holidays, store at 4C.

Do NOT spin (centrifuge) or separate.

Specimen must be collected in a separate tube and must not be passed through an analyser. 

 Recent changes for Myotonia Congenita (Becker Type)

Recent changes for Myotonia Congenita (Becker Type)
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - MYOTONIA CONGENITA (Becker Type)Myotonia Congenita (Becker Type)
Alternative namesCLCN1 gene mutation analysis
Minimum/Paediatric Volumenull mL

 Recent changes for MYOTONIC DYSTROPHY

Recent changes for MYOTONIC DYSTROPHY
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - MYOTONIC DYSTROPHYMYOTONIC DYSTROPHY
Alternative namesDM1, CTG Triplet repeatsDMPK, CTG Triplet repeats, DM1
12th March 2024Alternative namesMYOTONIC DYSTROPHY, DM1 GeneDM1, CTG Triplet repeats

 Recent changes for Neurofibromatosis

Recent changes for Neurofibromatosis
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - NEUROFIBROMATOSIS NF2Neurofibromatosis
Alternative namesNEUROFIBROMATOSIS NF2 DNANF2 gene mutation analysis, Familial One panel
Minimum/Paediatric Volumenull mL

 Recent changes for NEUROMYELITIS OPTICA AUTOANTIBODY

Recent changes for NEUROMYELITIS OPTICA AUTOANTIBODY
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for NEUROMYELITIS OPTICA AUTOANTIBODY (CSF)

Recent changes for NEUROMYELITIS OPTICA AUTOANTIBODY (CSF)
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for NMDA RECEPTOR ANTIBODY

Recent changes for NMDA RECEPTOR ANTIBODY
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for Omithine transcarbamlyasa deficiency genetic testing

Recent changes for Omithine transcarbamlyasa deficiency genetic testing
DateFieldChanged FromChanged To
13th March 2024Assay nameORNITHINE TRANSCARBAMYLASE GENE (DNA)Omithine transcarbamlyasa deficiency genetic testing
Alternative namesOTC GENE (DNA), DNA OTC GENE, DNA - ORNITHINE TRANSCARBAMYLASE GENEOTC gene, OTC
Minimum/Paediatric Volumenull mL

 Recent changes for QUAD TEST

Recent changes for QUAD TEST
DateFieldChanged FromChanged To
29th December 2023Minimum/Paediatric Volumenull mL
Collection & Request Instructions

Slip must state LNMP, H X, DOWNS NTD, DIABETES, RACE

Ist Trimester Testing: 11 - 13 weeks (13 weeks + 6 days cutoff)

                                        

2nd Trimester Testing: 14 - 20 weeks (20 + 6 days cutoff).

                                            15 - 17 weeks preferred

 

NOTE: If only PE Biochemistry is requested then refer to pre-eclampsia in the handbook. QUAD will not need to be registered in this instance.

 

Non-CMBS test

Slip must state LNMP, H X, DOWNS NTD, DIABETES, RACE

Ist Trimester Testing: 11 - 13 weeks (13 weeks + 6 days cutoff)

                                        

2nd Trimester Testing: 14 - 20 weeks (20 + 6 days cutoff).

                                            15 - 17 weeks preferred

 

Non-CMBS test

29th December 2023Minimum/Paediatric Volumenull mL
Collection & Request Instructions

Slip must state LNMP, H X, DOWNS NTD, DIABETES, RACE

Ist Trimester Testing: 11 - 13 weeks (13 weeks + 6 days cutoff)

                                        

2nd Trimester Testing: 14 - 20 weeks (20 + 6 days cutoff).

                                            15 - 17 weeks preferred

 

Non-CMBS test

Slip must state LNMP, H X, DOWNS NTD, DIABETES, RACE

Ist Trimester Testing: 11 - 13 weeks (13 weeks + 6 days cutoff)

                                        

2nd Trimester Testing: 14 - 20 weeks (20 + 6 days cutoff).

                                            15 - 17 weeks preferred

 

NOTE: If only PE Biochemistry is requested then refer to pre-eclampsia in the handbook. QUAD will not need to be registered in this instance.

 

Non-CMBS test

 Recent changes for RABIES SEROLOGY

Recent changes for RABIES SEROLOGY
DateFieldChanged FromChanged To
30th January 2024Assay nameRABIES (LYSSA VIRUS) SEROLOGYRABIES SEROLOGY
Alternative namesLyssavirus Serology

 Recent changes for Rett syndrome MECP2 genetic testing

Recent changes for Rett syndrome MECP2 genetic testing
DateFieldChanged FromChanged To
13th March 2024Assay nameRETT FOR MECP2 GENE MUTATION DETECTIONRett syndrome MECP2 genetic testing
Alternative namesDNA - RETT MECP2MECP2

 Recent changes for RNA fusion panel

Recent changes for RNA fusion panel
DateFieldChanged FromChanged To
8th March 2024Alternative namesNGS Solid Tumour RNA Panel, RNA Fusion Panel, Next Generation Sequencing (NGS), NGS Fusion PanelNGS Solid Tumour RNA Panel, Next Generation Sequencing (NGS), NGS Fusion Panel
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
8th March 2024Assay nameNGS Targeted RNA PanelRNA fusion panel
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for Sphingomyelinase

Recent changes for Sphingomyelinase
DateFieldChanged FromChanged To
13th March 2024Assay nameSPHINGOMYELINASESphingomyelinase
Alternative namesNiemann-Pick disease
Minimum/Paediatric Volumenull mL

 Recent changes for Spinal and bulbar muscular atrophy

Recent changes for Spinal and bulbar muscular atrophy
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - KENNEDYSpinal and bulbar muscular atrophy
Alternative namesKENNEDY'S DISEASE - DNA, DNA - KENNEDY'S DISEASEKennedy' Disease, X-linked type 1 AR known gene variant testing, SMAX1, SBMA, AR
Optional Specimen TypeAmniotic Fluid
Chorionic Villus Sample (CVS)
Optional Container TypeEDTA Whole BloodEDTA Whole Blood
Sterile Yellow Top Container

 Recent changes for Spinal muscular atrophy

Recent changes for Spinal muscular atrophy
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - SPINAL MUSCULAR ATROPHYSpinal muscular atrophy
Alternative namesSPINAL MUSCULAR ATROPHY (DNA), SMASMN1, SMN2, SMA

 Recent changes for Spinocerebellar ataxia 1,2,3,6,7

Recent changes for Spinocerebellar ataxia 1,2,3,6,7
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - CACNA1ASpinocerebellar ataxia 1,2,3,6,7
Alternative namesEPISODIC ATAXIA TYPE 2 (EA2) CACN1A GENE, DNA - SCA6CACNA1A, ATXN7, ATXN3, ATXN2, ATXN1
Optional Specimen TypeAmniotic Fluid
Chorionic Villus Sample (CVS)

 Recent changes for Spinocerebellar ataxia 15

Recent changes for Spinocerebellar ataxia 15
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - SCA GENESpinocerebellar ataxia 15
Alternative namesSCA, SPINO CEREBELLAR ATAXIA (SCA)ITPR1 gene mutation analysis, SCA 15
Optional Specimen TypeAmniotic Fluid
Chorionic Villus Sample (CVS)
Saliva

 Recent changes for THALASSAEMIA GENE ANALYSIS

Recent changes for THALASSAEMIA GENE ANALYSIS
DateFieldChanged FromChanged To
8th December 2023Assay nameALPHA THALASSAEMIA GENE ANALYSISTHALASSAEMIA GENE ANALYSIS
8th December 2023Alternative namesDNA THALASSAEMIA, THALASSAEMIA DNA STUDIES, BETA THALASSAEMIA GENE ANALYSIS, ALPHA GENE ANALYSIS, ALPHA THALASSAEMIA GENE ANALYSIS, Hb DNA ANALYSIS, HAEMOGLOBIN DNA ANALYSIS, HAEMOGLOBIN SEQUENCING, HAEMOGLOBINOPATHY DNA TESTDNA THALASSAEMIA, THALASSAEMIA DNA STUDIES, BETA THALASSAEMIA GENE ANALYSIS, ALPHA GENE ANALYSIS, ALPHA THALASSAEMIA GENE ANALYSIS, Hb DNA ANALYSIS, HAEMOGLOBIN DNA ANALYSIS, HAEMOGLOBIN SEQUENCING, HAEMOGLOBINOPATHY DNA TEST, SICKLE CELL GENETIC TEST

 Recent changes for TRYPTASE

Recent changes for TRYPTASE
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for TUMOUR CYTOGENETICS - FISH (Paediatric and Adult)

Recent changes for TUMOUR CYTOGENETICS - FISH (Paediatric and Adult)
DateFieldChanged FromChanged To
7th March 2024Alternative namesCHROMOSOMAL STUDIES, CYTOGENETICS LYMPH NODE, TUMOUR FISHCHROMOSOMAL STUDIES, CYTOGENETICS LYMPH NODE, TUMOUR FISH, NEUROBLASTOMA, NMYC, NEUROBLASTOMA CYTOGENETICS
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology when requested.

Fresh tissue is not acceptable for this test. Testing will only be performed on FFPE slides.

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology when requested.

Fresh tissue is not acceptable for this test. Testing will only be performed on FFPE slides by the external laboratory performing the test.

7th March 2024Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology when requested by a pathologist.

Fresh tissue is not acceptable for this test. Testing will only be performed on FFPE slides.

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology when requested.

Fresh tissue is not acceptable for this test. Testing will only be performed on FFPE slides.

7th March 2024Assay nameTUMOUR CYTOGENETICS (adult)TUMOUR CYTOGENETICS FISH (Paediatric and Adult)
Alternative namesCHROMOSOMAL STUDIES, CYTOGENETICS LYMPH NODE, FISHCHROMOSOMAL STUDIES, CYTOGENETICS LYMPH NODE, TUMOUR FISH
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Preferred Specimen TypeTissue - Fixed (Formalin)FFPE Slide (1 H&E tumour marked, 4 unstained)
Collection & Request Instructions

No fresh tissue is required for this request. Histopathology staff will cut spare sections of the paraffin embedded tissue and send for testing to cytogenetics.

This is a FISH test which must be ordered by a pathologist. Testing is performed on FFPE tissue sections organised through histopathology when requested by a pathologist.

Fresh tissue is not acceptable for this test. Testing will only be performed on FFPE slides.

 Recent changes for TUMOUR CYTOGENETICS - MICROARRAY (Paediatric)

Recent changes for TUMOUR CYTOGENETICS - MICROARRAY (Paediatric)
DateFieldChanged FromChanged To
7th March 2024Assay nameTUMOUR CYTOGENETICS (Paediatric)TUMOUR CYTOGENETICS-MICROARRAY (Paediatric)
Alternative namesMICROARRAY, MOLECULAR KARYOTYPE
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL
Collection & Request Instructions

This is a send away test for tumour cytogenetics on paediatric patients. A fresh specimen in RPMI medium is required for this request.

This is a send away test for tumour cytogenetics on paediatric patients. A fresh specimen in RPMI medium or normal saline is required for this request.

Frozen sample via the tissue bank are also accepted.

 Recent changes for UPD7

Recent changes for UPD7
DateFieldChanged FromChanged To
13th March 2024Assay nameRussell-Silver Syndrome Genetic testingUPD7
Alternative namesUPD7Russell Silver syndrome
13th March 2024Assay nameUPD7Russell-Silver Syndrome Genetic testing
Alternative namesUPD7 for Russell Silver syndrome. UPD7 RSS.UPD7
13th March 2024Request GroupMISMMISCGEN

 Recent changes for VHL gene mutation analysis

Recent changes for VHL gene mutation analysis
DateFieldChanged FromChanged To
12th March 2024Assay nameDNA - VHL MUTATION DELETIONVHL gene mutation analysis
Alternative namesVON HIPPEL LINDAU GENE TESTVon Hippel-Lindau
Minimum/Paediatric Volumenull mL

 Recent changes for VOLTAGE GATED CALCIUM ANTIBODIES

Recent changes for VOLTAGE GATED CALCIUM ANTIBODIES
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for VOLTAGE GATED POTASSIUM ANTIBODIES

Recent changes for VOLTAGE GATED POTASSIUM ANTIBODIES
DateFieldChanged FromChanged To
10th November 2023LaboratoryBiochemistryImmunology

 Recent changes for Y-CHROMOSOME MICRODELETION STUDIES

Recent changes for Y-CHROMOSOME MICRODELETION STUDIES
DateFieldChanged FromChanged To
7th March 2024Assay nameY-CHROMOSOME MICRODELETION STUDIESY-CHROMOSOME MICRODELETION STUDIES, AZF
Minimum/Paediatric Volumenull mL
Uncontrolled when downloaded or printed.
Date printed: 26th April, 2024 12:21:29