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​Lab Guide
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G H I J K L
M N O P Q R
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Test ID: Achondroplasia
Achondroplasia
Achondroplasia
Method name and description

DNA sequencing
Reporting name

(p.Gly380Arg) in FGFR3
Specimen type / Specimen volume / Specimen container

Venous blood in EDTA (lavender top) tube

Adult (2-5ml),

Child (0.5-2ml)
Storage and transport instructions

4oC to ambient.

Do not Freeze
Specimen Rejection Criteria

- Inappropriate collection tube
- Lack of clinical information
- Inadequate specimen identification
Turnaround time / Days and times test performed / Specimen retention time

Sundays to Thursdays

3 weeks

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