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Molecular testing for achondroplasia [amniotic fluid]

Code: 3049

The availability and turnaround time of this test should be confirmed with the unit before collection.

Method
Sequencing
Collection requirements
Amniotic fluid (10 mL); EDTA: Blood (5 mL). Essential: state whether the mother has achondroplasia.
Sample stability
Refrigerated at 2-8 °C
Turnaround time
33 working days
Preparation and notes
IMPORTANT: Samples for this test should only be collected Monday to Thursday and never on the day before a public holiday.

Genes tested(1 gene)

  • FGFR3

Specialties

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