Test Entry - Detail

FSHD Genetic Testing


General
  Clinical Use: Genetic testing, differential diagnosis and predictive testing. Prenatal testing not available.
  Availability: Samples are tested routinely during the testing laboratory's hours of operation.
  Aliases/Synonyms: Facioscapulohumeral Muscular Dystrophy,   FSHD1,  
  Code: GFMD
  Handling Instructions (to laboratory): Send sample chilled.
Sample must arrive within 5 days of collection.
  Hyperlink: https://www9.health.gov.au/mbs/fullDisplay.cfm?type=item&q=73435&qt=item&criteria=73435
  Reference Interval:
Not Applicable


Collection Requirements
  Container: EDTA (LAVENDER),  
  Sample Type: See container
  Minimum Collection Volume: 4mL
  Collection Instructions: Do not collect prior to public holidays.
Metro: Collect sample Monday-Wednesday.
Regional/Interstate: Collect sample Monday-Tuesday. Consider express courier for timely delivery.


Processing Requirements
  Alternate Containers:
  Processing Instructions: Store sample chilled. Do not freeze.
Do not centrifuge sample.
  Minimum Assay Volume: 4mL
  Stability: 72 hours ambient; 5 days chilled
  Transport Instructions (to testing laboratory): Send sample chilled.
Sample must arrive within 5 days of collection.


Testing Locations
  Performed at:
Section Department Site Contact Phone
Neurogenetics Diagnostic Genomics QEII Medical Centre 6383 4219


Last Updated : 26-06-2025 09:09