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

  • Fragile X Syndrome

  • Fragile X Tremor-Associated Syndrome

  • Premature Ovarian Failure (see also Infertility – Special Cases)

• 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

• IWK Clinical Genomics Genetic Testing General Requisition

  • Instructions for Genetic Testing General Requisition

  • Molecular Testing Section

• 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.