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YMICR<br />

82992<br />

FYSTG<br />

92000<br />

0-16 years: depends on dose given<br />

Xylose excretion, % dose 5 hr:<br />

0-16 years: 16-40 %<br />

<strong>Test</strong> Performed <strong>By</strong>: ARUP <strong>Laboratories</strong><br />

500 Chipeta Way<br />

Salt Lake City, UT 84108<br />

Y Chromosome Microdeletions, Molecular Detection<br />

Clinical Information: Yq microdeletions involving some or all of the azoospermic factor (AZF)<br />

region are the most frequently identified cause of spermatogenic failure in chromosomally normal men<br />

with nonobstructive azoospermia (3%-15%) or severe oligospermia (6%-10%). Among unselected<br />

infertile males, the overall frequency of Yq microdeletions is approximately 3%. The relative frequency<br />

of Yq microdeletions makes the evaluation for them an important aspect of the diagnostic work up in<br />

infertile males, especially those with azoospermia or severe oligospermia. Most cases of Yq<br />

microdeletions occur de novo, and due to the consequential infertile phenotype, they are typically not<br />

transmitted. However, in cases where assisted reproductive technology (example: TESE followed by<br />

ICSI) is used to achieve viable pregnancy, all male offspring born to a microdeletion carrier will carry the<br />

deletion and may be infertile. Men testing positive for 1 or more microdeletions who are enrolled in an in<br />

vitro fertilization treatment program may wish to consider alternative options to intracytoplasmic sperm<br />

injection (eg, donor sperm) and consultation with an experienced reproductive endocrinologist and<br />

medical geneticist is recommended. Most Y microdeletions are the result of homologous recombination<br />

between repeated sequence blocks. <strong>Test</strong>ing for deletions involves investigating for the presence or<br />

absence of markers located within non-polymorphic regions of the AZF region.<br />

Useful For: Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male<br />

factor infertility<br />

Interpretation: An interpretive report will be provided.<br />

Reference Values:<br />

An interpretive report will be provided.<br />

Clinical References: 1. Stahl PJ, Masson P, Mielnik A, et al: A decade of experience emphasizes<br />

that testing for Y microdeletions is essential in American men with azoospermia and severe<br />

oligozoospermia. Fertil Steril 2009 Nov 5 2. Shalender Bhasin: Approach to the infertile man. J Clin Endo<br />

& Metab 2007 June 92(6):1995-2004 3. Ferlin A, Arredi B, Speltra E, et al: Molecular and clinical<br />

characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy. J Clin<br />

Endo & Metab. 2007<br />

Yeast (Saccaromyces cerevisiae) IgG<br />

Reference Values:<br />

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