Hypertriglyceridaemia NGS gene panel

Diagnostic Use

Hypertriglyceridaemia NGS gene panel testing is indicated for patients with persistently elevated triglycerides, which may be associated with episodes of pancreatitis.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

LPL sequencing
Type 1 hyperlipoproteinaemia

Turnaround Time

4 weeks

Test Code

4580

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Additional Specimen Information

This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please do not centrifuge or freeze blood samples.
If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Test Method

Patient DNA is analysed using a Twist Bioscience next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. The panel targets the following genes that have been implicated in hypertriglyceridaemia: APOA5 (NM_052968.5), APOC2 (NM_000483.5), APOE (NM_000041.4), GPD1 (NM_005276.4), GPIHBP1 (NM_178172.6), LMF1 (NM_022773.4), LPL (NM_000237.3).

Non-Funded Test Cost

$806.72 (Exclusive of GST)

Billing Code

9619

Contact Information

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