Fragile X gene analysis


Test Information

Test Name

Fragile X gene analysis

Synonyms

FraX; Fragile X syndrome

Preferred Specimen

EDTA (Whole blood)

Testing Location

Referral

Turn Around Time

6 weeks


Collection Information

Availability

All routine requests for both microarray and Fragile-X tests will be tested by microarray in the first instance. Fragile X testing will only be performed if there is a known family history or if the clinical features meet the UKGTN Fragile X testing criteria.

Preparation

  • Diagnostic referral <15years through a specialist service
  • Diagnostic referral >15years requires referral through Neurology; Psychiatry or Genetic Services
  • All predictive/carrier only through Genetic Services
  • Premature ovarian failure referrals can be accepted through Obstetrics
  • Contact Genetic Health Services NZ 0800 476123 for further query
  • Genetic Health Service NZ contact details click here

Processing Information

Registration Code

FRAX

Notes

  • DO NOT centrifuge
  • DO NOT share sample
  • DO NOT freeze sample

Methodology

Interpretations

View Interpretations

Contact Information

laura.yau@pathlab.co.nz

External Referral Information

Referral Location

LabPlus (via WHL)

Send Away Transport

Specimen delivery Ambient on day of collection. Refrigerate overnight or weekend then send ambient

External Lab Website