Prader Willi / Angelman Syndrome, microarray &/or FISH
Test Identifier Information | |
| Registration Code | CTGN |
| Method | Karyotyping is no longer offered for the detection of Prader Willi or Angelman syndrome (PW/AS). Please refer to our testing flow chart. NB. Microarray testing has replaced karyotyping as the first tier test in paediatric investagations for chromosomal disorder. |
| Diagnostic Use / Indications | PW/AS is detected by a molecular genetic method called Methylation Sensitive HRM PCR. Please refer to our testing flow chart. A microarray should also be performed as microarray testing detects all currently known microdeletion syndromes in one assay and can also determine the exact region deleted. An array is especially recommended when the diagnosis of PW/AS is not certain, or in very young paediatric cases. Microarray testing will detect ~70% of PWS or AS, ie. all cases caused by chromosome 15 deletion and some cases of UPD(15). FISH testing is useful in the following situations: 1. Family follow-up where the syndrome has been shown previously to be caused by a deletion, to identify other affected relatives or to rule out the rare possibility of a parental balanced rearrangement involving the PWS/AS locus. 2. When the diagnosis is firm and urgency is required. 3. When methylation PCR has confirmed the diagnosis, but microarray testing has not been consented. FISH will detect only those cases caused by a 15q11q13 deletion. |
| External Price | $557.17(Exclusive of GST) |
Specimen Collection | |
| Pre-Testing Requirements | It may be useful to discuss this testing a Clinical Geneticist prior to requesting this test. Phone Genetic Services - toll-free on 0508 364 436 or Dr Alexa Kidd on 027 263 0015 Specific consent is required for microarray testing. Please refer to 'microarray' testing for a link to a form. |
| Specimen Collection Protocols | Whole blood is required for genetic testing; please do not centrifuge blood tubes. |
| Patient Specimen | 3mL EDTA blood + 1ml Lithium heparin blood |
| Paediatric Specimen | 1 mL EDTA blood - Neonates |
| Sample Delivery to Lab | Room temperature. DO NOT refrigerate or freeze |
CHLabs Laboratory | |
| Department | Haematology - Cytogenetics |
| Contact Details |
Email
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| Contact Phone Number | 03 364 1425 |
| Test Availability | Mon - Fri, business hours - urgent testing by arrangement |
| Turnaround Time | Microrray: urgent 10 days, non-urgent 28 days, FISH 5 days |
| Reference Interval | Comment on report |
| Interpretation | Comment on report |
| Delphic Number Test Number | 5445 |
