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Test Code: NGS Preferred Name Next Generation Sequencing

No
N/A
N/A
4-6 weeks
Non-medicare Item
N/A

Test Tubes

ImageSpecimen TypeSpecimen VolumeTube Type
Adult20002x EDTA 3 mL whole blood (Lavender top)
Paediatric1000EDTA 2 mL Paediatric ( Lavender Top)

COLLECTION NOTES

--No collection notes--

GENERAL 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
Noonan syndrome
Cardiofaciocutaneous syndrome (CFC)
Costello syndrome
LEOPARD syndrome
Neurofibromatosis, type 1
Legius syndrome (available on request)

Disorders of Sex Development (DSD) Panel - $1100
XX-DSD
XY-DSD

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.

HNF4A $1000
GCK $750
HNF1A $745
HNF1B $850
ABCC8 $2500
KCNJ11 $250
NR5A1 $550
SRD5A2 $400
HSD17B3 $750

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.

Email: Molecular.Genetics@mater.org.au

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