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azoospermia

Name azoospermia
Categories genetic test
Specimen requirements 1 ml of EDTA blood
Procedure remarks genetic test
The patient’s consent is required to carry out genetic tests.
Clinical utility for sperm concentrations < 5 x 106/mL: deletion screening for the Y chromosome;
with CBAVD-related male infertility: mutation screening
Methodology PCR and oligonucleotide ligation assay Mutation screening in the CFTR gene, including 5T, 7T, 9T variants in the intron 8
Remarks Testing currently takes place in a contract laboratory