Test Code: NGS Preferred Name Next Generation Sequencing
|Image||Specimen Type||Specimen Volume||Tube Type|
||Adult||2000||2x EDTA 3 mL whole blood (Lavender top)
||Paediatric||1000||EDTA 2 mL Paediatric ( Lavender Top)
--No collection notes--
No medicare rebate available.
Maturity-Onset Diabetes of the Young (MODY) Panel - $1100
(Includes copy-number analysis of selected genes)
Permanent Neonatal Diabetes Mellitus (PNDM) Panel - $1100
Familial Hyperinsulinism (FHI) Panel - $1100
Rasopathy Syndromes Panel - $1100
Cardiofaciocutaneous syndrome (CFC)
Neurofibromatosis, type 1
Legius syndrome (available on request)
Disorders of Sex Development (DSD) Panel - $1100
Single gene testing is available however this is not routine and requires discussion with department. Costs for single gene testing for index cases are as follows.
Testing for know mutations in family members $200
The Mater Molecular Genetics sequencing panel contains 62 candidate genes for monogenic disorders of insulin secretion (MDOIS), Noonan syndrome (NS) and Disorders of Sex development (DSD)
For more details about this test please refer to our website (pathology.mater.org.au/genepanels).
Shipping: Room Temperature (please contact the laboratory +61 7 3163 8500 for instructions on shipping samples from outside of Australia).
Address: Mater Pathology, Level 6, Mater Hospital Brisbane, Raymond Terrace, South Brisbane, QLD 4101, Australia.