Fragile X Syndrome (Blood)

Testing Laboratory

Auckland Te Toka Tumai | Auckland Hospital

Department

Refer to Testing Lab link

Delphic Registration Code (Alpha Code)

FRAG

Test Code (Numeric Code)

7216

Synonyms

FMR1 gene testing,
Fragile X associated tremor,
FXTAS,
Primary ovarian insufficiency,
POI

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• EDTA (Microtainer)

Preferred Sample Volume (ml)

8

Minimum Sample Volume (ml)

4

Preferred Specimen Type:
2x EDTA (Purple)

Minimum Volume:
Paediatric : 0.5 mL
Adult : 8 mL

Collection instructions:
Full clinical details including family history must be recorded on the form.
Ask for both Fragile X Syndrome testing and a Molecular Karyotype (Microarray).

Laboratory instruction:
Whole blood.
Transport within 24hrs.
Store overnight at 4’C, transport at room temperature.

Contact Information