Address Westmead Childrens Hospital
Molecular Genetics Laboratory
Westmead, NSW, Australia, 2145
Phone 02 9845 3244
Fax 02 9845 3204
5mL whole blood (EDTA), transport at room temperature
Clinical information and type of genetic testing required (see below). Provide family’s inherited point mutation If requesting predictive testing.
If the Local Health District is to be billed provide ordering doctor’s name, provider number, address and cost code.
If biller information is not indicated the patient will be billed.
Types of gene testing
1. Hereditary amyloidosis full screen
PCR and bi-drectional Sanger sequencing
Genes tested: TTR exons 1-4 (ref. sequence:NM_000371.3) ,FGA (ref.sequence NM_000508.4), APOAI exons 3 and 4 (ref.sequence NM_000039.2), and LYZ exons 2 and 4 (ref.sequence NM_000239.2), FGA codons p.510 to p.630 in exon 5
Screening for mutations in these regions accounts for 94% of the known pathogenic hereditary amyloidosis variants
2. TTR gene testing
PCR and bi-directional Sanger sequencing of TTR exons 1-4.
Screening in this region detects 99% of pathogenic TTR variants.
3. Predictive testing
Predictive testing for a proband’s family’s specific gene mutation
1. Full screen $800
2. TTR gene testing $400
3. Cascade/predictive testing for known familial variant $250
These tests are not Medicare rebated
More information available here.