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• W4386504306 abstract "Abstract Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. This revision of the 2013 European Academy of Andrology (EAA) and EMQN CIC (previously known as the European Molecular Genetics Quality Network) laboratory guidelines summarizes recent clinically relevant advances and provides an update on the results of the external quality assessment program jointly offered by both organizations. A basic multiplex PCR reaction followed by a deletion extension analysis remains the gold‐standard methodology to detect and correctly interpret AZF deletions. Recent data have led to an update of the sY84 primer sequences, as well as to a refinement of what were previously considered as interchangeable border markers for AZFa and AZFb deletion breakpoints. More specifically, sY83 and sY143 are no longer recommended for the deletion extension analysis, leaving sY1064 and sY1192, respectively, as first‐choice markers. Despite the transition, currently underway in several countries, toward a diagnosis based on certified kits, it should be noted that many of these commercial products are not recommended due to an unnecessarily high number of tested markers, and none of those currently available are, to the best of our knowledge, in accordance with the new first‐choice markers for the deletion extension analysis. The gr/gr partial AZFc deletion remains a population‐specific risk factor for impaired sperm production and a predisposing factor for testicular germ cell tumors. Testing for this deletion type is, as before, left at the discretion of the diagnostic labs and referring clinicians. Annual participation in an external quality control program is strongly encouraged, as the 22‐year experience of the EMQN/EAA scheme clearly demonstrates a steep decline in diagnostic errors and an improvement in reporting practice." @default.
• W4386504306 created "2023-09-08" @default.
• W4386504306 creator A5022099945 @default.
• W4386504306 creator A5044653936 @default.
• W4386504306 creator A5052552560 @default.
• W4386504306 creator A5056502454 @default.
• W4386504306 date "2023-09-06" @default.
• W4386504306 modified "2023-10-16" @default.
• W4386504306 title "EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: State of the art 2023" @default.
• W4386504306 cites W1537628363 @default.
• W4386504306 cites W1753029111 @default.
• W4386504306 cites W1866715081 @default.
• W4386504306 cites W1934437195 @default.
• W4386504306 cites W1970788210 @default.
• W4386504306 cites W1985334950 @default.
• W4386504306 cites W1995743497 @default.
• W4386504306 cites W2002314897 @default.
• W4386504306 cites W2002582503 @default.
• W4386504306 cites W2007233513 @default.
• W4386504306 cites W2013660548 @default.
• W4386504306 cites W2015385813 @default.
• W4386504306 cites W2017462717 @default.
• W4386504306 cites W2018047282 @default.
• W4386504306 cites W2019491357 @default.
• W4386504306 cites W2021299847 @default.
• W4386504306 cites W2021998028 @default.
• W4386504306 cites W2023878109 @default.
• W4386504306 cites W2024885627 @default.
• W4386504306 cites W2032965533 @default.
• W4386504306 cites W2035752228 @default.
• W4386504306 cites W2041723064 @default.
• W4386504306 cites W2042478514 @default.
• W4386504306 cites W2044456487 @default.
• W4386504306 cites W2045087913 @default.
• W4386504306 cites W2049088133 @default.
• W4386504306 cites W2050568852 @default.
• W4386504306 cites W2055580090 @default.
• W4386504306 cites W2057671098 @default.
• W4386504306 cites W2058987786 @default.
• W4386504306 cites W2061745487 @default.
• W4386504306 cites W2063067265 @default.
• W4386504306 cites W2063536346 @default.
• W4386504306 cites W2064547278 @default.
• W4386504306 cites W2064951687 @default.
• W4386504306 cites W2069277865 @default.
• W4386504306 cites W2074881035 @default.
• W4386504306 cites W2074968742 @default.
• W4386504306 cites W2077233832 @default.
• W4386504306 cites W2078075583 @default.
• W4386504306 cites W2082233801 @default.
• W4386504306 cites W2082248170 @default.
• W4386504306 cites W2085901882 @default.
• W4386504306 cites W2096583481 @default.
• W4386504306 cites W2097512118 @default.
• W4386504306 cites W2100657356 @default.
• W4386504306 cites W2101730299 @default.
• W4386504306 cites W2103339246 @default.
• W4386504306 cites W2106111803 @default.
• W4386504306 cites W2106831308 @default.
• W4386504306 cites W2107923962 @default.
• W4386504306 cites W2108205121 @default.
• W4386504306 cites W2108349258 @default.
• W4386504306 cites W2108967510 @default.
• W4386504306 cites W2109814745 @default.
• W4386504306 cites W2111418342 @default.
• W4386504306 cites W2112468159 @default.
• W4386504306 cites W2112482499 @default.
• W4386504306 cites W2113773171 @default.
• W4386504306 cites W2120670577 @default.
• W4386504306 cites W2121186261 @default.
• W4386504306 cites W2121791548 @default.
• W4386504306 cites W2122394651 @default.
• W4386504306 cites W2122755693 @default.
• W4386504306 cites W2123016385 @default.
• W4386504306 cites W2123581103 @default.
• W4386504306 cites W2125644396 @default.
• W4386504306 cites W2128376740 @default.
• W4386504306 cites W2130012357 @default.
• W4386504306 cites W2132062714 @default.
• W4386504306 cites W2133230682 @default.
• W4386504306 cites W2133482618 @default.
• W4386504306 cites W2133748783 @default.
• W4386504306 cites W2134781509 @default.
• W4386504306 cites W2139342180 @default.
• W4386504306 cites W2141840718 @default.
• W4386504306 cites W2144329341 @default.
• W4386504306 cites W2145883275 @default.
• W4386504306 cites W2146280921 @default.
• W4386504306 cites W2148836413 @default.
• W4386504306 cites W2149476287 @default.
• W4386504306 cites W2151912241 @default.
• W4386504306 cites W2154263589 @default.
• W4386504306 cites W2154332823 @default.
• W4386504306 cites W2157015015 @default.
• W4386504306 cites W2159114579 @default.
• W4386504306 cites W2161414825 @default.
• W4386504306 cites W2163425429 @default.
• W4386504306 cites W2163849750 @default.
• W4386504306 cites W2165288344 @default.
• W4386504306 cites W2165506990 @default.

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