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Test ID: FSRY    
Sex-Determining Region Y, Yp11.3 Deletion, FISH

Useful For Suggests clinical disorders or settings where the test may be helpful

Aiding in the detection of the SRY gene in males with primary infertility, XY females, and individuals with ambiguous genitalia, in conjunction with conventional chromosome studies (CMS / Chromosome Analysis, for Congenital Disorders, Blood)

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Appropriate to aid in detecting the presence or absence of the SRY gene in XX males, XY females, and infertile XY males. Must be ordered in conjunction with conventional chromosome studies (CMS / Chromosome Analysis, For Congenital Disorders, Blood).

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The SRY (sex-determining region on the Y chromosome) gene is required for normal embryonic wolffian (male) genital development, although numerous other genes are involved in completing the process of normal male development. Some gene mutations block the action of SRY in development. Thus, a 46,XY individual with an SRY deletion or mutation will develop as a female, and a 46,XX individual with translocation of SRY to 1 X chromosome will develop as a male. Structural abnormalities of the Y chromosome result in a spectrum of abnormalities from primary infertility (male or female) to various forms of ambiguous genitalia. SRY-negative 46,XX males often have ambiguous genitalia, whereas those who are positive for SRY usually have a normal male phenotype with azoospermia. SRY-negative 46,XY females may have another mutation, such as 1 involving the SOX9 gene.

 

We recommend conventional chromosome studies (CMS / Chromosome Analysis, for Congenital Disorders, Blood) to detect Y chromosome abnormalities and to rule out other chromosome abnormalities or translocations, and FISH studies to detect cryptic translocations involving the SRY region that are not demonstrated by conventional chromosome studies.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

Any male individual with an SRY signal on a structurally normal Y chromosome is considered negative for a deletion in the region tested by this probe. Any patient with a FISH signal pattern indicating loss of the critical region will be reported as having a deletion of the regions tested by this probe. Any patient with a FISH signal on an X chromosome will be reported as having a cryptic X;Y translocation involving the critical region.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This FISH test is not approved by the FDA.

Supportive Data

Using a probe for the SRY critical region, FISH analysis was performed on a series of 46 patient specimens, peripheral blood or amniotic fluid, and results were compared to cytogenetic analyses and the patient's phenotype.

 

Of 20 phenotypic females:

-12 with a 45,X karyotype or an X duplication exhibited no SRY signal

-8 with a 46,XY karyotype or an abnormal Y were SRY positive

 

Of 20 phenotypic males:

-7 of 8 with a 46,XX karyotype were SRY negative

-13 with a 46, XY with a normal or rearranged Y chromosome were SRY positive

 

Of 25 controls:

-13 males exhibited SRY on the Y chromosome

-12 females exhibited no SRY signal

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

1. Margarit E, Coll MD, Oliva R, et al: SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. Am J Med Genet 2000 Jan;90(1):25-28

2. Lopez M, Torres L, Mendez JP, et al: SRY alone can induce normal male sexual differentiation. Am J Med Genet 1995 Jan;55(3):356-358

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test