Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)

Diagnostic Use

Usually one partner is known to carry a structural rearrangement which, if passed in an unbalanced form to their children, would result in a severe genetic disorder.

If PGT-SR is appropriate for a couple it is usually recommended by the Clinical Genetics service, and the couple is referred to a fertility clinic who will arrange the Feasibility Testing and the IVF treatment.

In most cases PGT-SR is funded, although there may be a waiting list to begin the process.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Laboratory Handling

Registration

Please store biopsies in a -80 freezer if they arrive out of hours.

Synonyms

Embryo analysis

Turnaround Time

6 weeks

Specimen Type

• Biopsy

Specimen Requirements

Tube/Container Type:

Additional Specimen Information

Patient sample: Trophectoderm biopsies from day 5-7 blastocysts
Samples should be collected into 2.5uL of 1x PBS already aliquoted in a 0.2mL PCR tube. Please contact the laboratory at genelab.test@cdhb.health.nz if you require tubes.

Aliquot Instructions

Additional Referral/Aliquot Information

All testing is arranged through the fertility clinic directly with CHL.

Test Method

PGT-SR involves analysis of embryos produced during in vitro fertilisation (IVF) to identify embryos that have abnormal chromosome copy numbers (aneuploidy). CHL uses ReproSeq™ by ThermoFisher Scientific to undertake PGT-SR.

Non-Funded Test Cost

$531.87 (Exclusive of GST)

Billing Code

9414

Contact Information

Enquiry Form