Genetics Sendaway Tests to CHL (Blood)

Referring Laboratory

LabPLUS - Diagnostic Genetics

Testing Laboratory

Canterbury Health Laboratories Christchurch Hospital

Department

Diagnostic Genetics

Delphic Registration Code (Alpha Code)

DGCH

Test Code (Numeric Code)

5061

Synonyms

Calcium sensing receptor gene analysis, CaSR gene Analysis, CPT2, Cystic Fibrosis gene test, DYPD, FGFR2, Hereditary Pancreatitis Test, Notch3/CADASIL, Pendred gene testing, SLC26A4, SPINK1/CFTR/PRSS1,Transthyretin Mutational Analysis, NUDT15, Mitochondrial DNA sequencing, Y chromosome microdeletion

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• EDTA (Microtainer)

Preferred Sample Volume (ml)

4

When NUDT15 and TPMT are requested together, one sample should go to CHL for NUDT15 and TPMT should be registered here (see TPMT entry). There should be 3x EDTA tubes, if not please see below.

Potential scenarios:

1. If only 1x EDTA is received for NUDT15 and TPMT (or "TPMT activity" or "TPMT levels" or "TPMT phenotype"):
TPMT: Register for TPMT and send to Biochem for enzymatic testing, then they will forward to DGen if required.
NUDT15: Issue a "No sample received" comment for the send-away test.

2. If only 1x EDTA is received for NUDT15 and TPMT genotyping:
TPMT: Register for DNAT and sent to DGen.
NUDT15: Issue a "No sample received" comment for the send-away test.

3. If 2x EDTA are received for NUDT15 and TPMT:
TPMT: Register for TPMT and send to Biochem for enzymatic testing, then they will forward to DGen if required.
NUDT15: Send 1x EDTA to CHL for testing.

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

Contact Information