Pathology Specimen Handbook

Recent changes for all departments


 Recent changes for 11 BETA HYDROXYLASE ALDOSTERONE SYNTHASE GENE MUTATION

Recent changes for 11 BETA HYDROXYLASE ALDOSTERONE SYNTHASE GENE MUTATION
DateFieldChanged FromChanged To
1st May 2024Request GroupMISCGENGMPTRAN

 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
26th June 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://monashpathology.org/wp-content/uploads/2024/01/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 - $185 for a routine test, $350 if an urgent (same day) result is required.

29th April 2024Request GroupATS13A (ATS13AU if request is URGENT)ATS13A

 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 ALLOPURINOL

Recent changes for ALLOPURINOL
DateFieldChanged FromChanged To
27th June 2024FrequencyTwice weekly

 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 GLYCINE RECEPTOR (GLYR) ANTIBODIES

Recent changes for ANTI GLYCINE RECEPTOR (GLYR) ANTIBODIES
DateFieldChanged FromChanged To
18th June 2024Collection & Request Instructions

This test is not covered by the Medicare Benefits Schedule.  The patient will be responsible for the cost of the test.

A "Consent for Payment" form must be signed by the patient before collection (Form FOR-CN-96).  Please note:  This consent form is not required for "Hospital In-Patients".

Contact Immunology 9594 3587 for further information.

 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 NEURONAL CELL ANTIBODIES - CSF

Recent changes for ANTI NEURONAL CELL ANTIBODIES - CSF
DateFieldChanged FromChanged To
8th July 2024Alternative namesAMPHIPHYSIN ANTIBODY, ANNA1 (Hu) ANTIBODY, ANNA2 (Ri) ANTIBODY, BRAIN ANTIBODY, CEREBELLUM ANTIBODY, CRMP5 ANTIBODY, CV2 ANTIBODY, HU ANTIBODY, MA1 ANTIBODY, MA2 ANTIBODY, NEURONAL CELL ANTIBODY - CSF, PARANEOPLASTIC ANTIBODY, PCA-1 (Yo) ANTIBODY, PURKINJE CELL (Yo) ANTIBODY, RI ANTIBODY, YO ANTIBODYAMPHIPHYSIN ANTIBODY, ANNA1 (Hu) ANTIBODY, ANNA2 (Ri) ANTIBODY, BRAIN ANTIBODY, CEREBELLUM ANTIBODY, CRMP5 ANTIBODY, CV2 ANTIBODY, HU ANTIBODY, MA1 ANTIBODY, MA2 ANTIBODY, NEURONAL CELL ANTIBODY - CSF, PARANEOPLASTIC ANTIBODY, PCA-1 (Yo) ANTIBODY, PURKINJE CELL (Yo) ANTIBODY, RI ANTIBODY, YO ANTIBODY GFAP - Anti-Glial Fibrillary Acidic Protein mGluR1, mGluR5 - metabotropic glutamate receptor 1 and 5

 Recent changes for ANTI NEURONAL CELL ANTIBODIES - SERUM

Recent changes for ANTI NEURONAL CELL ANTIBODIES - SERUM
DateFieldChanged FromChanged To
8th July 2024Alternative namesAMPHIPHYSIN ANTIBODY, ANNA1 (Hu) ANTIBODY, ANNA2 (Ri) ANTIBODY, BRAIN ANTIBODY, CEREBELLUM ANTIBODY, CRMP5 ANTIBODY, CV2 ANTIBODY, HU ANTIBODY, MA1 ANTIBODY, MA2 ANTIBODY, NEURONAL CELL ANTIBODY - SERUM, PARANEOPLASTIC ANTIBODY, PCA-1 (Yo) ANTIBODY, PURKINJE CELL (Yo) ANTIBODY, RI ANTIBODY, YO ANTIBODY, ZIC4 ANTIBODY, TR (DNER) ANTIBODY, PNMA/TA ANTIBODY, SOX1 ANTIBODY, TITIN ANTIBODY, RECOVERIN ANTIBODYAMPHIPHYSIN ANTIBODY, ANNA1 (Hu) ANTIBODY, ANNA2 (Ri) ANTIBODY, BRAIN ANTIBODY, CEREBELLUM ANTIBODY, CRMP5 ANTIBODY, CV2 ANTIBODY, HU ANTIBODY, MA1 ANTIBODY, MA2 ANTIBODY, NEURONAL CELL ANTIBODY - SERUM, PARANEOPLASTIC ANTIBODY, PCA-1 (Yo) ANTIBODY, PURKINJE CELL (Yo) ANTIBODY, RI ANTIBODY, YO ANTIBODY, ZIC4 ANTIBODY, TR (DNER) ANTIBODY, PNMA/TA ANTIBODY, SOX1 ANTIBODY, TITIN ANTIBODY, RECOVERIN ANTIBODY GFAP - Anti-Glial Fibrillary Acidic Protein mGluR1, mGluR5 - metabotropic glutamate receptor 1 and 5

 Recent changes for BRCA1

Recent changes for BRCA1
DateFieldChanged FromChanged To
2nd May 2024Alternative namesBREAST CANCER, BRCABREAST CANCER, BRCA, BRAC PLUS
Minimum/Paediatric Volumenull mL
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
2nd May 2024Alternative namesBREAST CANCER, BRCABREAST CANCER, BRCA, BRCA PLUS
Minimum/Paediatric Volumenull mL
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 CADASIL syndrome

Recent changes for CADASIL syndrome
DateFieldChanged FromChanged To
1st May 2024Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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 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

 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

 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 CSF (CEREBRAL SPINAL FLUID) FOR MICROSCOPY & CULTURE

Recent changes for CSF (CEREBRAL SPINAL FLUID) FOR MICROSCOPY & CULTURE
DateFieldChanged FromChanged To
30th April 2024Minimum/Paediatric Volumenull mL

 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

 Recent changes for Dexamethasone

Recent changes for Dexamethasone
DateFieldChanged FromChanged To
14th June 2024Collection & Request Instructions

This a send-out test to Queensland Pathology.

 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

 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
1st May 2024Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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
2nd July 2024Optional Container TypeHeparin Plasma (Gel)Heparin Plasma (Gel)
Serum - Gel tube - Contains Clot Activator
FrequencyWeekly
24th April 2024Alternative namesE2MS, E2 BY LCMSE2MS, E2 BY LCMS, OESTRADIOL BY LCMS, OESTRADIOL

 Recent changes for ETHYLENE GLYCOL

Recent changes for ETHYLENE GLYCOL
DateFieldChanged FromChanged To
14th June 2024Collection & Request Instructions

2x Tubes must be collected

This is a send-out test that requires the following steps:

1. Must screen with lactate gap first.

- Perform Paired Whole Blood Lactate on both ABL825 (Big Analyser) and ABL90 (Small Analyser) Blood Gas Analyser

- If ethylene glycol is present, ABL825 will give a falsely high lactate result compared to ABL90.

Test will only be sent if lactate gap is present.

2. Contact clinical toxicologist for approval.

- Name and contact details of the approving toxicologist and ordering clinician must be provided on the request slip.

3. If urgent sendout is required, contact Chemical Pathologist/Registrar.

Specimen required: 2x EDTA tubes (Purple Top). 

 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 FACTOR II, V, VII, VIII, IX, X, XI, XII, XIII ASSAYS

Recent changes for FACTOR II, V, VII, VIII, IX, X, XI, XII, XIII ASSAYS
DateFieldChanged FromChanged To
26th June 2024Collection & Request Instructions

Factor XIII (F13) Non CMBS test

Factor XIII (F13) Non-CMBS test - $145

 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
1st May 2024Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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
2nd May 2024Request GroupGMPTRANMISCGEN
1st May 2024Request GroupMISCGENGMPTRAN
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
1st May 2024Request GroupMISCGENGMPTRAN
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 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 Gilberts

Recent changes for Gilberts
DateFieldChanged FromChanged To
18th June 2024Assay nameGilbert's Syndrome GenotypingGilberts
Volume (Adults)10 mL4 mL
Minimum/Paediatric Volume2 mL
FrequencyFortnightly
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 HAEMOGLOBIN ELECTROPHORESIS

Recent changes for HAEMOGLOBIN ELECTROPHORESIS
DateFieldChanged FromChanged To
8th July 2024Collection & Request Instructions

Unsable Haemoglobin / Unstable Hb / Isopropanol Precipitation Test

(a) Tests must be booked with Special Haematology lab PH 9594 3490.

(b) Samples must be collected on Mon - Thurs (preferably AM). DO NOT collect blood for this test on Fridays or days preceding public holiday. Samples MUST be transported at 4oC.

(c) Phone Special Haematology lab before collection on ext 43490.

(d) Adult Volume - 3 mL and Paediatric Volume - 2 mL. A separate dedicated EDTA tube is preferred. 

Hb H Preparation / Hb H inclusions

(a) Samples must be collected on Sun - Fri. Collections on Fridays must arrive at the Clayton laboratory by 1pm. DO NOT collect blood for this test on Saturdays or days preceding public holidays.

(b) Phoned Special Haematology lab before collection on ext 43490 (Mon - Fri).

 

 

Unstable Haemoglobin / Unstable Hb / Isopropanol Precipitation Test

(a) Tests must be booked with Special Haematology lab PH 9594 3490.

(b) Samples must be collected on Mon - Thurs (preferably AM). DO NOT collect blood for this test on Fridays or days preceding public holiday. Samples MUST be transported at 4oC.

(c) Phone Special Haematology lab before collection on ext 43490.

(d) Adult Volume - 3 mL and Paediatric Volume - 2 mL. A separate dedicated EDTA tube is preferred. 

Hb H Preparation / Hb H inclusions

(a) Samples must be collected on Sun - Fri. Collections on Fridays must arrive at the Clayton laboratory by 1pm. DO NOT collect blood for this test on Saturdays or days preceding public holidays.

(b) Phone Special Haematology lab before collection on ext 43490 (Mon - Fri).

 

 

 Recent changes for HEPARIN INDUCED THROMBOCYTOPENIA SCREEN (HITS)

Recent changes for HEPARIN INDUCED THROMBOCYTOPENIA SCREEN (HITS)
DateFieldChanged FromChanged To
26th June 2024Minimum/Paediatric Volumenull mL
Collection & Request Instructions

Non CMBS test

ALL HIT testing to be approved by Haematologist

Non-CMBS test - $185 for a routine test, $285 if an urgent (same day) result is required.

ALL HIT testing to be approved by Haematologist

 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 INHIBIN B

Recent changes for INHIBIN B
DateFieldChanged FromChanged To
25th June 2024Volume (Adults)4 mL1 mL

 Recent changes for INTRINSIC FACTOR ANTIBODIES

Recent changes for INTRINSIC FACTOR ANTIBODIES
DateFieldChanged FromChanged To
22nd July 2024Alternative namesINTRINSIC FACTOR ANTIBODY, IF ANTIBODY, IFABINTRINSIC FACTOR ANTIBODY, IF ANTIBODY, IFAB, ANTI IF

 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 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 LIPOPROTEIN (a)

Recent changes for LIPOPROTEIN (a)
DateFieldChanged FromChanged To
8th May 2024Alternative namesLPaLPa; Lp(a), Lp (a)

 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
1st May 2024Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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
1st May 2024Request GroupMISCGENGMPTRAN
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

 Recent changes for Motor neuron disease gene panel

Recent changes for Motor neuron disease gene panel
DateFieldChanged FromChanged To
1st May 2024Alternative namesWES, Exome Next generation sequencing, Motor neurone disease, ALS, Amyotrophic lateral sclerosis, ALS, MND, Lou Gehrig's DiseaseMotor neurone disease, ALS, Amyotrophic lateral sclerosis, ALS, MND, Lou Gehrig's Disease
Minimum/Paediatric Volumenull mL
1st May 2024Alternative namesWES, Exome Next generation sequencing, Motor neurone disease, ALS, Amyotrophic lateral sclerosis, ALS, MND, Lou Gehrig's DiseaseWES, Exome Next generation sequencing, Motor neurone disease, ALS, Amyotrophic lateral sclerosis, ALS, MND, Lou Gehrig's Disease
Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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 Mycobacterium leprae PCR

Recent changes for Mycobacterium leprae PCR
DateFieldChanged FromChanged To
7th June 2024Assay nameMycobacterium lepraeMycobacterium leprae PCR
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 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
1st May 2024Request GroupGMPTRAN MISCGEN
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 NEUTROPHIL OXIDATIVE BURST

Recent changes for NEUTROPHIL OXIDATIVE BURST
DateFieldChanged FromChanged To
22nd July 2024Assay nameIMMUNE FUNCTION TESTSNEUTROPHIL OXIDATIVE BURST
Alternative namesLEUKOCYTE (LEUCOCYTE) PHENOTYPE AND FUNCTION, LYMPHOCYTE PHENOTYPE AND FUNCTION, NBT TEST, NEUTROPHIL FUNCTION (NPHIL), NEUTROPHIL PHAGOCYTOSIS, NEUTROPHIL ROS, PHAGOCYTE FUNCTION, REACTIVE OXYGEN SPECIESNBT TEST, NEUTROPHIL FUNCTION (NPHIL), NEUTROPHIL PHAGOCYTOSIS, NEUTROPHIL ROS, PHAGOCYTE FUNCTION, REACTIVE OXYGEN SPECIES
Preferred Container TypeHeparin Whole Blood (No Gel) and EDTAHeparin Whole Blood (No Gel)
Collection & Request Instructions

All immune function tests can be collected Monday to Friday anytime.  Saturday samples must be collected before 2pm.  Please send in RED BAG.

4 mL EDTA must be collected at the same time unless an FBE has been requested and collected at the same time.

For clarification please contact the Immunology Lab on 9594 3587 (x43587). 

For Monday to Friday collection only. Any exceptions to this must be discussed with the immunopathologist on-call.

Must be performed within 24 hours of collection.

22nd July 2024Assay nameIMMUNE FUNCTION TESTSNEUTROPHIL FUNCTION
Alternative namesLEUKOCYTE (LEUCOCYTE) PHENOTYPE AND FUNCTION, LYMPHOCYTE PHENOTYPE AND FUNCTION, NBT TEST, NEUTROPHIL FUNCTION (NPHIL), NEUTROPHIL PHAGOCYTOSIS, NEUTROPHIL ROS, PHAGOCYTE FUNCTION, REACTIVE OXYGEN SPECIESNBT TEST, NEUTROPHIL FUNCTION (NPHIL), NEUTROPHIL PHAGOCYTOSIS, NEUTROPHIL ROS, PHAGOCYTE FUNCTION, REACTIVE OXYGEN SPECIES, NEUTROPHIL OXIDATIVE BURST
Preferred Container TypeHeparin Whole Blood (No Gel) and EDTAHeparin Whole Blood (No Gel)
Collection & Request Instructions

All immune function tests can be collected Monday to Friday anytime.  Saturday samples must be collected before 2pm.  Please send in RED BAG.

4 mL EDTA must be collected at the same time unless an FBE has been requested and collected at the same time.

For clarification please contact the Immunology Lab on 9594 3587 (x43587). 

For Monday to Friday collection only. Any exceptions to this must be discussed with the immunopathologist on-call.

Must be performed within 24 hours of collection.

 Recent changes for NK CELL FUNCTION

Recent changes for NK CELL FUNCTION
DateFieldChanged FromChanged To
15th May 2024Volume (Adults)8 mL15 mL
Minimum/Paediatric Volume8 mL15 mL
Collection & Request Instructions

Please contact the Immunology Lab on 9594 3587 prior to collection/registration for confirmation.  This test is performed at the Royal Children's Hospital (RCH) by appointment only.

A minimum of 8mL blood must be collected in a lithium heparin tube.  A minimum of 0.5mL blood must be collected in an EDTA tube.

Please contact the Immunology Lab on 9594 3587 prior to collection/registration for confirmation.  This test is performed at the Royal Children's Hospital (RCH) by appointment only.

A minimum of 15mL blood must be collected in a lithium heparin tube.  A minimum of 0.5mL blood must be collected in an EDTA tube.

 Recent changes for Omithine transcarbamlyasa deficiency genetic testing

Recent changes for Omithine transcarbamlyasa deficiency genetic testing
DateFieldChanged FromChanged To
1st May 2024Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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 PARATHYROID HORMONE RELATED PEPTIDE

Recent changes for PARATHYROID HORMONE RELATED PEPTIDE
DateFieldChanged FromChanged To
25th June 2024FrequencyNot applicableThursday

 Recent changes for PLASMINOGEN

Recent changes for PLASMINOGEN
DateFieldChanged FromChanged To
26th June 2024Collection & Request Instructions

Non CMBS test

Non-CMBS test - $42

 Recent changes for PLASMINOGEN ACTIVATOR

Recent changes for PLASMINOGEN ACTIVATOR
DateFieldChanged FromChanged To
26th June 2024Collection & Request Instructions

Non CMBS test

Non CMBS test - $121

 Recent changes for PLASMINOGEN ACTIVATOR INHIBITOR

Recent changes for PLASMINOGEN ACTIVATOR INHIBITOR
DateFieldChanged FromChanged To
26th June 2024Collection & Request Instructions

Non CMBS test

Non-CMBS test - $88

Please note that PAI testing is not currently being offered at Monash Health Pathology. Please contact Special Coagulation lab on 9594 6751 for more information.

 Recent changes for PRION PROTEIN GENE TESTING

Recent changes for PRION PROTEIN GENE TESTING
DateFieldChanged FromChanged To
2nd May 2024Alternative namesCJD GENE TESTINGCJD GENE TESTING PRNP
Collection & Request InstructionsSample must reach the reference laboratory within 48 hours of collection, therfore do not send samples on Friday or Saturday. Notification of sample being sent must be made by the clinician directly to the reference laboratory prior to sending sample. A patient consent form (available directly from the reference laboratory) is required to be completed before testing can proceed. http://ancjdr.path.unimelb.edu.au/

 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
1st May 2024Request GroupMISCGENGMPTRAN
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 SERUM FOR STORAGE

Recent changes for SERUM FOR STORAGE
DateFieldChanged FromChanged To
29th May 2024Alternative namesHOLD SERUM FOR SEROLOGYHOLD SERUM FOR SEROLOGY, SPARE SERUM
Request GroupidsSTOR
Volume (Adults)null mL
Minimum/Paediatric Volumenull mL

 Recent changes for Sphingomyelinase

Recent changes for Sphingomyelinase
DateFieldChanged FromChanged To
1st May 2024Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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
1st May 2024Alternative namesKennedy' Disease, X-linked type 1 AR known gene variant testing, SMAX1, SBMA, ARKennedy' Disease, X-linked type 1 AR known gene variant testing, SMAX1, SBMA, AR
Request GroupMISCGENGMPTRAN
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 TH17 CELLS

Recent changes for TH17 CELLS
DateFieldChanged FromChanged To
8th July 2024Preferred Container TypeHeparin Whole Blood (No Gel)Heparin Whole Blood (No Gel) and EDTA
Collection & 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 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 (0.5mL 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 THIOPURINE METHYL TRANSFERASE GENOTYPING

Recent changes for THIOPURINE METHYL TRANSFERASE GENOTYPING
DateFieldChanged FromChanged To
21st May 2024Alternative namesTPMTG, TPMTTPMTG, TPMT, NUDT, NUDT-15

 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
1st May 2024Request GroupMISCGENGMPTRAN
Minimum/Paediatric Volumenull mL
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 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: 27th July, 2024 17:06:00