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Fanconi Anaemia Testing

Blood
Test performed by: LabPLUS Diagnostic Genetics transport this to a 3rd party for testing


Test performed by: Central and Southern Genetic Services,Wellington Hospital



THESE REQUESTS MUST BE ARRANGED WITH THE CYTOGENETIC LABORATORY THE WEEK BEFORE SPECIMEN COLLECTION (see below)


Testing for Fanconi anaemia is performed by Mitomycin C (MMC) stressed cultures; using blood samples from the patient along with an appropriate control (see below).

For optimal testing conditions, the following procedure must be adhered to:

1. THE WEEK BEFORE COLLECTING THE SPECIMEN , please phone the laboratory to arrange collection and testing of specimens:
Cytogenetics (LabPlus) ext 22008 or 22012, or via LabLink

2. SPECIMENS REQUIRED : ( Patient and Control samples to be arranged by the requesting doctor )

1. Patient

SPECIMEN: Adult: 8 - 10 mL blood, equivalent to two full heparin tubes.

Paediatric: 3 - 4 ml blood in a heparin tube.

.

2. Control : A control sample is required to assist with validation of the results.

SPECIMEN: Control: as above, but to be collected:

    • From an unrelated person, sex and age matched as close as possible.
    • At the same time as the patient specimen.
    • The control person must be healthy with no haematological disease.

3. SPECIMEN COLLECTION DAY & TIME

Specimen must be collected on Monday mornings only, and must reach LabPlus no later than 11:30 a.m. on that day to be in time for the courier.

Please contact the laboratory before, and on the morning of the collection to arrange for a scientist to pick up the samples.

Specimens must reach the Wellington testing laboratory within 24 hours of collection, by Tuesday morning at the latest.

4. REFERRAL FORMS

Specimens must be accompanied by a referral form clearly stating:

  • clinical details
  • test required (MMC test for Fanconi anaemia)
  • Patient ID; including name, date of birth and sex.
  • Control ID: must include the date of birth and sex.
  • The date and time of collection (also written on all collection tubes).

    5. TRANSPORT

    Please arrange for a Cytogenetic Laboratory Scientist to pick up the samples (see 3. above).

    For further information, contact ACH Cytogenetics Laboratory via Lablink: 22000 or (09) 307-8995 or 0800 522 7587.


    • Last updated at 15:13:39 02/02/2017