CLINICAL INDICATION
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Suspected microdeletion/microduplication syndrome
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22q deletion/ duplication
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Angelman Syndrome
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Beckwith-Wiedemann Syndrome
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Charcot Marie Tooth 1A
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Hereditary Neuropathy with Pressure Palsies
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Prader Willi Syndrome
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Russell Silver Syndrome
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SMA (SMN dosage)
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Williams Syndrome
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XLI (steroid sulfatase deficiency)
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Other microdeletion/microduplication syndrome
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FMR1 Related Tests
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Fragile X Syndrome
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Fragile X Tremor-Associated Syndrome
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Premature Ovarian Failure (see also Infertility – Special Cases)
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General Molecular Tests
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Becker/Duchenne Muscular Dystrophy
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Cystic Fibrosis
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Friedreich Ataxia
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Hereditary Pancreatitis (recurrent mutations)
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Huntington Disease (confirmation only)
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Hypotonia Cascade (PWS, SMA, DM1)
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Male Infertility (CBAVD/ Y microdeletion)
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Maternal cell contamination
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MCAD (common mutation)
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Myotonic Dystrophy (Type 1/ Type 2)
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Non Syndromic Deafness (GJB2/6 Screen)
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Rapid Aneuploidy Detection (RAD) Postnatal
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RETT (MECP2 screen)
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Spinal and Bulbular Muscular Atrophy
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Twin studies
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Other molecular testing (including referred out testing)
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Follow-up testing per proband’s abnormal result
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DNA banking for future testing
TESTING
Molecular Testing
LABORATORY REQUISITION REQUIRED
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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:
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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.