Reproductive health | Health Services Laboratories

Genetics tests: Reproductive health

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Test name
Androgen Insensitivity – AR gene sequencing
Array CGH (Comparative Genomic Hybridisation)
Ashkenazi Jewish Carrier Screen
Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
Carrier Screen (Ashkenazi Jewish)
Carrier Screen (Ashkenazi Jewish) – Partnered Report
Carrier Screen (Pan-Ethnic)
Carrier Screen (Pan-Ethnic) – Partnered Report
Chromosome Analysis (Blood)
Chromosome Analysis (Products of Conception)
Chromosome Analysis (Products of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (10 days) + culture (25 days)
Chromosome Analysis (Solid Tissue)
Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY
Comparative Genomic Hybridisation (Array CGH)
Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions
Cystic Fibrosis (139 common variants) – reflex to Poly T when required
Factor V Leiden – G1691A Variant
Fragile X Syndrome screen – FMR1 repeat analysis PCR
Genetic Reproductive Profile (Male)
Kallmann Syndrome NGS Panel – full gene sequencing
Male Genetic Reproductive Profile
MTHFR – common C677T + A1298C variants
Products of Conception – rapid BOBs aneuploidy diagnosis for all chromosomes (10 days) + culture (25 days)
Products of Conception BOBs only – rapid aneuploidy diagnosis for all chromosomes
Recurrent Miscarriage Profile (female)
SRY (Sex-determining Region Y)
Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY