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Genetics tests: Prenatal diagnosis

Please use the search box below to filter this list

Test name
1p36 Deletion Syndrome – karyotype + FISH
22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days)
22q11 & 10p14 deletion (Di George Syndrome) – BOBs only
Alpha Fetoprotein on Amniotic fluid
AmnioBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
Amniocentesis – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Amniocentesis – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Amniocentesis culture (karyotype) only
AmnioPCR only – rapid common aneuploidy diagnosis by QF-PCR
Array CGH (Comparative Genomic Hybridisation)
Blood PCR for Chromosome 13, 18, 21 and sex chromosomes
Chromosome Analysis (Amniocentesis) – culture only
Chromosome Analysis (Amniocentesis) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Chromosome Analysis (Amniocentesis) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Chromosome Analysis (Chorionic Villus) – culture only
Chromosome Analysis (Chorionic Villus) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
Chromosome Analysis (Chorionic Villus) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)
Comparative Genomic Hybridisation (Array CGH)
CVS PCR for common aneuploidies (2 days) + culture (10-15 days)
CVSBOBs – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)
CVSBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes
DiGeorge Syndrome (22q11 & 10p14 deletion) – BOBs (5 days) + karyotype (15 days)
DiGeorge Syndrome (22q11 & 10p14) – BOBs only
Microdeletion (common) Syndromes – BOBs only
Neurofibromatosis Type 1 – NF1 + SPRED1 sequencing + deletions/duplications
Neuronal Ceroid Lipofuscinosis (Batten Disease) NGS Panel – full gene sequencing
Non-Invasive Prenatal Testing – common aneuploidy screening from maternal blood
Noonan Syndrome Prenatal Screening – PTPN11 exons 3 & 8 only
Prenatal array CGH
Prenatal Diagnosis (BOBs + Culture)
QF-PCR rapid common aneuploidy screen
Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days)
Wolf-Hirschhorn Syndrome – BOBs only

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