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Test & Specimen Requirements

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A

  • Acute Care Genomics
  • Alport Syndrome
  • Angelman Syndrome Test

B

  • Bulk billed exome for childhood syndromes

C

  • Charcot-Marie-Tooth Type 1A Test
  • Chimerism Test
  • Cystic Fibrosis Test

D

  • Dentatorubral Pollidoluysian Atrophy Test
  • Duchenne/Becker Muscular Dystrophy Test

E

  • Exome (clinical)

F

  • Familial Hypercholesterolaemia
  • Fragile X Syndrome Test
  • Friedreich Ataxia Test

H

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

I

  • Interphase FISH Test (postnatal)

M

  • Maternal Cell Contamination Test
  • Microarray (Paediatric) 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

O

  • Oncology Cytogenetics Test

P

  • Prader-Willi Syndrome Test

S

  • Spinal Muscular Atrophy Test
  • Spinocerebellar Ataxia (Types 1,2,3,6,7,15) Test

U

  • UPD Test

W

  • Whole genome sequencing

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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
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  • ABN: 51 007 032 760
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