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Molecular (DNA) Testing

 

CLINICAL INDICATION

  • Suspected microdeletion/microduplication syndrome

    • 22q deletion/ duplication

    • Angelman Syndrome

    • Beckwith-Wiedemann Syndrome

    • Charcot Marie Tooth 1A

    • Hereditary Neuropathy with Pressure Palsies

    • Prader Willi Syndrome

    • Russell Silver Syndrome

    • SMA (SMN dosage)

    • Williams Syndrome

    • XLI (steroid sulfatase deficiency)

    • Other microdeletion/microduplication syndrome

  • FMR1 Related Tests

  • General Molecular Tests

    • Becker/Duchenne Muscular Dystrophy

    • Cystic Fibrosis

    • Friedreich Ataxia

    • Hereditary Pancreatitis (recurrent mutations)

    • Huntington Disease (confirmation only)

    • Hypotonia Cascade (PWS, SMA, DM1)

    • Male Infertility (CBAVD/ Y microdeletion)

    • Maternal cell contamination

    • MCAD (common mutation)

    • Myotonic Dystrophy (Type 1/ Type 2)

    • Non Syndromic Deafness (GJB2/6 Screen)

    • Rapid Aneuploidy Detection (RAD) Postnatal

    • RETT (MECP2 screen)

    • Spinal and Bulbular Muscular Atrophy

    • Twin studies

    • Other molecular testing (including referred out testing)

  • Follow-up testing per proband’s abnormal result

  • DNA banking for future testing

 

TESTING

Molecular Testing

 

LABORATORY REQUISITION REQUIRED

  • Completed Referral Laboratory Requisition (if applicable)

    Testing will not proceed without appropriate referral paperwork

 

SAMPLE REQUIREMENTS

3-5 ml peripheral blood in EDTA (purple top) tube

(2 ml peripheral blood (EDTA) from newborn < 1 mo.)

All specimens must be sent with a completed requisition. Specimen and requisition must both be labelled with the following matching identifiers:

  • Patient’s full name (first and last)
    AND

  • Patient’s Health Card Number or Hospital Identification Number

Any specimens received without the appropriate requisition or identifiers may be rejected.

 

TURN AROUND TIME

6 weeks routine

If urgent – contact laboratory

(May be longer for referred out testing)

 

Direct all samples to
Clinical Genomics Laboratory, IWK Health Centre
5850/5980 University Ave, PO Box 9700, Halifax, NS, B3K 6R8
For more information, email (preferred): clinicalgenomics@iwk.nshealth.ca or call 902-470-6504.