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Discover our tests Test & Specimen Requirements
Reproductive Genetic Testing
  • percept™ NIPT
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Biochemical Genetics
  • Newborn Bloodspot Screening
  • Metabolic
Genetics and Genomics
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  • Disorders of Sex Development (DSD)
  • Neurogenetic Diagnostics
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  • Paediatric Microarray
  • Single Gene Diagnostics
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Test & Specimen Requirements

Search Tests & Specimen Requirements
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3

  • 3-Hydroxyglutaric Acid Test

A

  • Acyl Carnitines Test
  • Alport Syndrome
  • Amino Acids - Blood Test
  • Amino Acids - CSF Test
  • Angelman Syndrome Test

B

  • Bile Acid Profile Test
  • Bulk billed exome for childhood syndromes

C

  • Carnitine - Free And Total Test
  • Charcot-Marie-Tooth Type 1A Test
  • Chimerism Test
  • Chromosome Analysis (recurrent Miscarriage, Infertility, Family History) Test
  • Chromosome Breakage Disorders Test
  • Cystic Fibrosis Test
  • Cystine Test

D

  • Dentatorubral Pollidoluysian Atrophy Test
  • DNA Extraction
  • DNP Test
  • Duchenne/Becker Muscular Dystrophy Test

E

  • Exome (clinical)

F

  • Familial Hypercholesterolaemia
  • Family and confirmatory testing
  • Fragile X Syndrome Test
  • Free Fatty Acids Test
  • Friedreich Ataxia Test
  • Frontotemporal Dementia [FTD] C9orf72 Test
  • Frontotemporal Dementia [FTD] Test

G

  • Galactoscreen Test
  • Glycosaminoglycan Screen Test
  • Guanidinoacetic Test

H

  • Hereditary Hearing Loss Test
  • Hereditary Neuropathy With Liability To Pressure Palsy HNPP Test
  • Huntington Disease Test
  • Hydroxy Butyrate Test

I

  • Interphase FISH Analysis Test
  • Interphase FISH Test (postnatal)

M

  • Maternal Cell Contamination Test
  • Maternal Serum Screening Test
  • Metabolic Screen Test
  • Methylmalonic Acid Test
  • Microarray (Paediatric) Test
  • Microarray And Chromosome Analysis Test
  • Microdeletion/Microduplication FISH Test
  • Mito - Cascade and family testing
  • Mito - Nuclear DNA analysis: exome or genome sequencing
  • Mito - Quantitative testing mtDNA
  • Mito - Respiratory chain enzymes
  • Mito - Whole Genome Sequencing (WGS)
  • Mito - Whole mitochondrial genome (mtDNA) analysis
  • MLPA - Sensorineural Hearing Loss (SNHL)
  • MLPA Screening Aortopathy Test
  • MLPA Screening Brugada Test
  • MLPA Screening Cardiomyopathy Test
  • MLPA Screening LongQT Test
  • Myotonic Dystrophy Test

N

  • New Family Proband Test
  • Newborn Bloodspot Screening Test

O

  • Oncology Cytogenetics Test
  • Orotic Acid Test

p

  • percept™ Non-Invasive Prenatal Test
  • prepair™ carrier screening test

P

  • Piperideine-6-Carboxylic Test
  • Polyols Test
  • Prader-Willi Syndrome Test
  • Pre-eclampsia Test
  • Prenatal diagnosis - single gene
  • Purine & Pyrimidine Screen Test
  • Pyruvate - Blood Test
  • Pyruvate - CSF Test

R

  • Reducing Substances Test

S

  • Spinal Muscular Atrophy Test
  • Spinocerebellar Ataxia (Types 1,2,3,6,7,15) Test
  • Sterols Test
  • Sticklers Syndrome, Spondyloepiphyseal Dysplasia Congenita Test
  • Succinyl Acetone Test
  • Sulphite Test

T

  • Transferrin Isoforms Test

U

  • UPD Test

W

  • Whole genome sequencing

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  • Biochemical Genetics (27) Apply Biochemical Genetics filter
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Filter by labs:

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  • Laboratory Services (1) Apply Laboratory Services filter
  • Mitochondrial (1) Apply Mitochondrial filter
  • Newborn Screening (1) Apply Newborn Screening filter
  • Non-invasive Prenatal Testing (1) Apply Non-invasive Prenatal Testing filter
  • Single Gene Diagnostics (1) Apply Single Gene Diagnostics filter

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Victorian Clinical Genetics Services

Murdoch Children's Research Institute
Royal Children's Hospital
Flemington Road, Parkville
Victoria 3052 Australia
  • +61 1300 11 8247
  • +61 3 8341 6366
  • [email protected]
  • ABN: 51 007 032 760
  • Reproductive Genetic Testing
    • percept™ NIPT
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    • Metabolic
  • Genetics and Genomics
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