Onward Referral for Genetic Testing

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

External genetic testing
Genetic Sendaway testing
Referral for Genetic testing
Sendaway referral: Genetics

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

Minimum Sample Volume (ml)

3.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2.0

Minimum Sample Volume (ml)

1.0

Pre-testing Requirements

Prior to genetic testing, it is important that patients are aware of the implications for themselves and their extended families. It is expected that informed consent is obtained before samples are taken and sent to our laboratory.

Ideally, the referral should be approved by a specialist health professional, such as a Clinical Geneticist or Genetic Pathologist. All requests for external genetic testing are therefore reviewed prior to onward referral. We therefore ask that referral forms are completed clearly and enable us to obtain additional or supporting information, if required.

As part of the pre-testing process, we may request that you complete an additional information form. If you wish to complete this in advance you can locate this form here and email a copy to genelab.test@cdhb.health.nz.

We also ask that you include the patient NHI in the title of any email correspondance with the laboratory. This makes it easier for the team to search for specific patient-related emails.

Aliquot Instructions

Test Method

Genetic testing can have significant implications for individual patients and their families. Genetic changes (variants) can also affect different individuals in different ways. It is therefore important that genetic testing is carried out in laboratories with sufficient expertise and experience in each testing area.

Historically, genetic diagnostic laboratories have tested a finite number of genes associated with genetic disorders. In recent years technology has advanced and genomic testing has become more affordable and mainstream. It is now possible to screen all 20-30,000 genes in the human genome, including many that laboratories within New Zealand have no experience investigating.

The Genetics Department at CHL therefore offers an onward referral service which includes the following:

•Sample receipt and preparation eg. DNA or RNA extraction (charged separately)
•Indentification of an appropriate referral laboratory
•Collation of the required information, documentation and samples
•Packaging and shipping
•Ensuring a copy of the external report is available in the patient record

Contact Canterbury Health Laboratories on +64 3 364 0484 or email LabInfo@cdhb.health.nz

Additional Costing Information

The cost of testing can vary widely depending on the specific testing requested. We recover the amount charged to us by the referral laboratory, the shipping costs and add a handling fee of $40. If sample preparation, such as DNA or RNA extraction is alos required, this is invoiced separately.

Please contact this laboratory for details of the costs for specific tests as required.

Turn-around times:

The turnaround time for results varies widely among referrals for external testing due to a number of factors. These include:

•The time required to collate all the necessary information. This includes obtaining consent forms, identifying an appropriate referral laboratory and completing specific referral forms/processes required by the referral laboratories
•The time to receipt of a second sample (if predictive testing is requested)
•The complexity of testing requested (eg. whole genome or exome sequencing takes much longer than a single gene disorder test)
•The frequency of requesting of the specific test required. Testing for rare disorders often takes much longer than the more common referrals due to the need/desire to run a viable batch size of samples
The table below provides indicative TATs for tests based on test type. For anticipated TATs for a specific test, or to request more urgent analysis, please contact this laboratory directly.

Table 1: Indicative TATs for Genetics Tesing that Requires Onward Referral

Test type
Approximate TAT

Single gene screening tests such as:

BRCA screen

Duchenne Muscular Dystrophy

Lynch syndrome

TP53 gene test

4-6 weeks

Full sequencing of large genes such as:

Allan Hernon Dudley Syndrome

Familial Hypertrophic Cardiomyopathy

Acrodermatitis Enteropathica

5-16 weeks

MPS/NGS gene panel testing such as:

Noonan Syndrome NGS Panel

MPS for Bone Fragility

Aortopathy panel by MPS
16-20 weeks

Very rare or research only testing

~9-12 months

Contact Information

Enquiry Form