Test Guide Mobile

Diagnostic Genetics Send Away

Any
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics

Specimen Collection
4 mL Adult EDTA Blood
0.5 mL Paediatric EDTA Blood
Other sample types

Buccal Swab
Saliva
Post-mortem Tissues
Bone marrow (CPD or EDTA)
Fresh tissue biopsy
Prenatal specimens (Amniocentesis or Chorionic villus)

When requesting tests on multiple samples please indicate clearly on the form which specimen type is to be sent for send away testing.

Turnaround Time: 3 weeks
Batch sent weekly on Thursdays
Urgent samples - Sent 1-2 days after sample arrival
Please note: TATs will vary for different send away tests - please refer to the testing laboratory website.

Assay Method
DNA is extracted using a range of extraction methods depending on the sample type and test required.
The send away process is managed by the Diagnostic Genetic department and samples dispatched via specimen services.
DNA Extraction & Storage

Diagnostic Use and Interpretation
Extraction of DNA and dispatch to national and international laboratories for genomic tests which are not performed at LabPLUS.
The cost of testing is dependent on several factors. Please contact Diagnostic Genetics for send away costs.

Courier costs:

Approximate International Courier Prices

Australia

Asia Pacific

Europe

USA

Other

Routine

$80

$110

$120

$110

$150

Urgent

$1230

$1700

$1710

Please note: DNA is stored at -20 to -80 degrees C indefinitely unless disposal is requested. It is important that all patients are consented for their DNA to be stored.

The Genetic Health Service consent form is linked below:
Example consent form - DNA Sample Send Away Form.pdf
Download: Diagnostic Genetics Sendaway Form - Diagnostic Genetics Sendaway Form.pdf
Common Send Away Tests:

Test type

Recommended lab

Comments

Cardiac

Cardiac Panels

1. Blueprint Genetics, Finland

2. Invitae, USA

Aortopathy

1. Blueprint Genetics, Finland

2.Invitae, USA

Aorta panel

Endocrinology

CaSR

Canterbury Health Laboratories, NZ

Epigenetics

11p Methylation/ Beckwith Wiedemann Syndrome

1. Monash Medical Centre, Australia

2. Institut fur Humangenetik und Genommedizin (Thomas Eggermann), Germany

Gastroenterology

Chronic Pancreatitis Panel

1. Blueprint Genetics, Finland

2. Invitae, USA

3. Peter MacCallum Cancer Centre, Australia

Dosage and SNV 9 gene panel

Immunology

Primary Immune Deficiency

1. Blueprint Genetics, Finland

2. Invitae, USA

Bone Marrow Failure Panel

1. Blueprint Genetics, Finland

2. Invitae, USA

Neurology

Ataxia

CANVAS RFC1 - University of Chicago, USA

SCA - Concord, Australia

1. Blueprint Genetics, Finland

2. Invitae, USA

3. PathWest, Australia

SCA types 1, 2, 3, 6, 7 can be done at Wellington Regional Genetics Laboratory, NZ.

C9orf72

Canterbury Health Laboratories, NZ

Charcot Marie Tooth Panel

Blueprint Genetics, Finland

PMP22 can be done in-house.

Epilepsy

1. Blueprint Genetics, Finland

2. Invitae, USA

FSHD

1. Bristol Genetics Laboratory, UK

Mitochondrial DNA Analysis

1. Canterbury Health Laboratories, NZ

2. Blueprint Genetics, Finland

3. PathWest, Australia

Nuclear 1.VCGS or 2.BpG only.

VCGS has nuclear mitochondrial interpretation support for VOUS.

Myopathy Gene Panel

1. Blueprint Genetics, Finland

2. Invitae, USA

3. PathWest, Australia

PathWest is good at offering variant interpretation support.

Neuromuscular Gene Panel / Muscular NGS Panel

1. Blueprint Genetics, Finland

2. Invitae, USA

3. PathWest, Australia

Blueprint Genetics is always preferred.

PathWest don't report VOUS unless requested.

NF1/NF2

1. UAB Medical Genomics Laboratory, USA / Genomics for Life, Australia

2. Blueprint Genetics, Finland

3. Invitae, USA

Ideally if paired affected tissue with germline (lymphocytic DNA) - for number 1.

NOTCH3/CADASIL

Canterbury Health Laboratories, NZ

Oncology

Fanconi Anaemia (Molecular Testing)

1. Blueprint Genetics, Finland

2. Invitae, USA

Cytogenetic test is done at Wellington Regional Genetics Laboratory, NZ.

Hereditary Cancer

1.Peter MacCallum Cancer Centre, Australia

2. Invitae, USA

3. Blueprint Genetics, Finland

For familial cases where positive controls were tested in another lab, sometimes testing will need to be sent to original lab.

Hereditary Paraganglioma-Pheochromocytoma Panel

1. Blueprint Genetics, Finland

2. Canterbury Health Laboratories, NZ

3. Invitae, USA

Single gene testing can be done in-house. Panels will require sendaway.

Myeloid Gene Panel

1. Peter MacCallum Cancer Centre, Australia

2. Pathwest, Australia

Skeletal Dysplasia

Ehlers-Danlos Syndrome Panel (Connective Tissue Disorder Panel/Collagenopathy)

1. Blueprint Genetics, Finland

2. Invitae, USA

Overgrowth Syndrome / NDS1/ Sotos Dyndrome

1. Blueprint Genetics, Finland

2. Invitae, USA

Macrocephaly/overgrowth panel

Skeletal Dysplasia / Ciliopathies Panel/Osteogenesis Imperfecta Panel

1. Blueprint Genetics, Finland

2. Invitae, USA

Other

Confirmatory Analysis

Canterbury Health Laboratories, NZ

CHL will need to be contacted prior to sendaway request.

Macular Dystrophy panel

1. Blueprint Genetics, Finland

2. Invitae, USA

3. Molecular Vision Laboratories, USA

Sensorineural Hearing Loss

1. Blueprint Genetics, Finland

2. Invitae, USA

3. VCGS, Australia

BpG exome based virtual panels.

Invitae enhanced panels. VCGS exome based targeted panel (longer TAT).

TSC1/TSC2 panel

1. Blueprint Genetics, Finland

2. Invitae, USA

WES

1. Blueprint Genetics, Finland

2. VCGS, Australia

3. Revvity Health Sciences, USA

BpG for all standard exomes - singleton, duo, trio, quad.

VCGS can do Ultra rapid for urgent baby requests. Revvity is the only one that does Prenatal WES.

Note:

This is a simplified table of the send away tests that we can send to external laboratories. If the test is not listed in the table above, please contact Diagnostic Genetics ( dgen@adhb.govt.nz ) and they will be able to assist further.

Contact Information
Diagnostic Genetics Pre-Processing

Auckland City Hospital (09) 307 4949
Lablink ext 22000
Neha Kumar (Section Leader) ext 22008

Email DGen@adhb.govt.nz

Specimen Transport Instructions for Referring Laboratories
A minimum of 0.5ml can be processed. However, sufficient DNA for downstream testing cannot be guaranteed if less than 4.0ml blood is collected.
Transport all bloods between >8 degrees C to <24 degrees C within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at the temperatures stated above the following day.
For testing of other sample types please contact the laboratory prior to sending.

Last updated at 10:06:34 28/08/2024

Approximate International Courier Prices
	Australia	Asia Pacific	Europe	USA	Other
Routine	$80	$110	$120	$110	$150
Urgent	$1230		$1700	$1710

Test type	Recommended lab	Comments
Cardiac
Cardiac Panels	1. Blueprint Genetics, Finland 2. Invitae, USA
Aortopathy	1. Blueprint Genetics, Finland 2.Invitae, USA	Aorta panel
Endocrinology
CaSR	Canterbury Health Laboratories, NZ
Epigenetics
11p Methylation/ Beckwith Wiedemann Syndrome	1. Monash Medical Centre, Australia 2. Institut fur Humangenetik und Genommedizin (Thomas Eggermann), Germany
Gastroenterology
Chronic Pancreatitis Panel	1. Blueprint Genetics, Finland 2. Invitae, USA 3. Peter MacCallum Cancer Centre, Australia	Dosage and SNV 9 gene panel
Immunology
Primary Immune Deficiency	1. Blueprint Genetics, Finland 2. Invitae, USA
Bone Marrow Failure Panel	1. Blueprint Genetics, Finland 2. Invitae, USA
Neurology
Ataxia	*CANVAS RFC1 -* University of Chicago, USA SCA - Concord, Australia 1. Blueprint Genetics, Finland** 2. Invitae, USA 3. PathWest, Australia	SCA types 1, 2, 3, 6, 7 can be done at Wellington Regional Genetics Laboratory, NZ.
C9orf72	Canterbury Health Laboratories, NZ
Charcot Marie Tooth Panel	Blueprint Genetics, Finland	PMP22 can be done in-house.
Epilepsy	1. Blueprint Genetics, Finland 2. Invitae, USA
FSHD	1. Bristol Genetics Laboratory, UK
Mitochondrial DNA Analysis	1. Canterbury Health Laboratories, NZ 2. Blueprint Genetics, Finland 3. PathWest, Australia	Nuclear 1.VCGS or 2.BpG only. VCGS has nuclear mitochondrial interpretation support for VOUS.
Myopathy Gene Panel	1. Blueprint Genetics, Finland 2. Invitae, USA 3. PathWest, Australia	PathWest is good at offering variant interpretation support.
Neuromuscular Gene Panel / Muscular NGS Panel	1. Blueprint Genetics, Finland 2. Invitae, USA 3. PathWest, Australia	Blueprint Genetics is always preferred. PathWest don't report VOUS unless requested.
NF1/NF2	1. UAB Medical Genomics Laboratory, USA / Genomics for Life, Australia 2. Blueprint Genetics, Finland 3. Invitae, USA	Ideally if paired affected tissue with germline (lymphocytic DNA) - for number 1.
NOTCH3/CADASIL	Canterbury Health Laboratories, NZ
Oncology
Fanconi Anaemia (Molecular Testing)	1. Blueprint Genetics, Finland 2. Invitae, USA	Cytogenetic test is done at Wellington Regional Genetics Laboratory, NZ.
Hereditary Cancer	1.Peter MacCallum Cancer Centre, Australia 2. Invitae, USA 3. Blueprint Genetics, Finland	For familial cases where positive controls were tested in another lab, sometimes testing will need to be sent to original lab.
Hereditary Paraganglioma-Pheochromocytoma Panel	1. Blueprint Genetics, Finland 2. Canterbury Health Laboratories, NZ 3. Invitae, USA	Single gene testing can be done in-house. Panels will require sendaway.
Myeloid Gene Panel	1. Peter MacCallum Cancer Centre, Australia 2. Pathwest, Australia
Skeletal Dysplasia
Ehlers-Danlos Syndrome Panel (Connective Tissue Disorder Panel/Collagenopathy)	1. Blueprint Genetics, Finland 2. Invitae, USA
Overgrowth Syndrome / NDS1/ Sotos Dyndrome	1. Blueprint Genetics, Finland 2. Invitae, USA	Macrocephaly/overgrowth panel
Skeletal Dysplasia / Ciliopathies Panel/Osteogenesis Imperfecta Panel	1. Blueprint Genetics, Finland 2. Invitae, USA
Other
Confirmatory Analysis	Canterbury Health Laboratories, NZ	CHL will need to be contacted prior to sendaway request.
Macular Dystrophy panel	1. Blueprint Genetics, Finland 2. Invitae, USA 3. Molecular Vision Laboratories, USA
Sensorineural Hearing Loss	1. Blueprint Genetics, Finland 2. Invitae, USA 3. VCGS, Australia	BpG exome based virtual panels. Invitae enhanced panels. VCGS exome based targeted panel (longer TAT).
TSC1/TSC2 panel	1. Blueprint Genetics, Finland 2. Invitae, USA
WES	1. Blueprint Genetics, Finland 2. VCGS, Australia 3. Revvity Health Sciences, USA	BpG for all standard exomes - singleton, duo, trio, quad. VCGS can do Ultra rapid for urgent baby requests. Revvity is the only one that does Prenatal WES.

Auckland City Hospital	(09) 307 4949
Lablink	ext 22000
Neha Kumar (Section Leader)	ext 22008
Email	DGen@adhb.govt.nz