Prenatal diagnosis - single gene

Overview

For prenatal diagnosis of CVS or amniocentesis samples for single nuclear gene variants, please contact our dedicated prenatal diagnostics team on [email protected] to discuss requirements prior to arranging testing.

Cost

$800- prenatal diagnosis of known familial variant (previously set up by VCGS)

Add

$340 per variant if test set-up is required for a new VCGS identified variant

$440 per variant if test set-up is required for variant(s) identified in another laboratory

Maternal Cell Contamination (MCC) analysis is required for all prenatal samples.

Where a VCGS SNP microarray has been performed on the sample to be tested, MCC analysis is ascertained from the array data at no extra charge. If new MCC analysis is required, add $100.

Prenatal Mitochondrial DNA analysis via Next Generation Sequencing (NGS) on CVS samples (includes maternal/proband urine or EDTA blood sample as positive control) : $2500

Reporting time

2-3 weeks

Contacts

P: 1300 118 247
E: [email protected]

Specimen Requirements

Amniotic fluid: 15-20 ml

CVS: 10-20 mg

EDTA blood:

Adult: 2 x 5 ml
Child: 2 x 1-3 ml

Notes

Prenatal Sample and Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.