About this test
Undiagnosed monogenic disorders – fetal or childhood anomalies when karyotype/CMA are non-diagnostic.
Parameters
2 parameters available in the current test details.
- COMMENT
- Nx Gen Clinical Exome Sequencing Thermofisher
Sample & preparation
- Sample
- EDTA blood (proband ± parents); amniotic fluid / CVS for prenatal
- Preparation
- Written consent and pre-test counselling; bring family history and prior reports. Prenatal procedures: Form F (PC&PNDT).
Confirm preparation and reporting time with OnePLUS when booking. Your referring clinician can advise which investigation is appropriate.