Test ID: FSRY
Sex-Determining Region Y, Yp11.3 Deletion, FISH
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
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/8696 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 (#8696 Chromosome Analysis, For Congenital Disorders, Blood).
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
Method Name A short description of the method used to perform the test
Fluorescence In Situ Hybridization (FISH)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Sex Determining Region of Y
SRY
Yp Deletion
Yp11.3
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.
Forms:
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
2. If not ordering electronically, submit a Cytogenetics/AFP Congenital Disorders Request Form (Supply T238) with the specimen.
Advise Express Mail or equivalent if not on courier service.
Submit only 1 of the following specimens:
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20-25 mL
Collection Instructions:
1. Optimal timing for specimen collection is during 14 to 18 weeks of gestation, but specimens collected at other weeks of gestation are also accepted. Provide gestational age at the time of amniocentesis.
2. Discard the first 2 mL of amniotic fluid.
Additional Information:
1. Place the tubes in a Styrofoam container (Supply T329).
2. Fill remaining space with packing material.
3. Unavoidably, about 1% to 2% of mailed-in specimens are not viable.
4. Bloody specimens are undesirable.
5. If the specimen does not grow in culture, you will be notified within 7 days of receipt.
6. Results will be reported and also telephoned or faxed, if requested.
Specimen Type: Autopsy
Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline
Specimen Volume: 4 mm diameter
Collection Instructions:
1. Wash biopsy site with an antiseptic soap.
2. Thoroughly rinse area with sterile water.
3. Do not use alcohol or iodine preparations.
4. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.
Specimen Type: Blood
Container/Tube: Green top (sodium heparin)
Specimen Volume: 5 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
Specimen Type: Chorionic villus
Container/Tube: 15-mL tube containing 15 mL of transport media
Specimen Volume: 20-25 mg
Collection Instructions:
1. Collect specimen by the transabdominal or transcervical method.
2. Transfer chorionic villi to a Petri dish containing transport medium (Supply T095).
3. Using a stereomicroscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots and maternal decidua.
Specimen Type: Fixed cell pellet
Container/Tube: Sterile container with a 3:1 fixative (methanol:glacial acetic acid)
Specimen Volume: Entire specimen
Specimen Type: Products of conception or stillbirth
Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline
Specimen Volume: 1 cm(3) of placenta (including 20-mg of chorionic villi) and a 1-cm(3) biopsy specimen of muscle/fascia from the thigh
Collection Instructions: If a fetus cannot be specifically identified, collect villus material or tissue that appears to be of fetal origin.
Additional Information: Do not send entire fetus.
Forms: Final Disposition of Fetal/Stillborn Remains (if fetal specimen is sent) in Special Instructions
Specimen Type: Skin biopsy
Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline
Specimen Volume: 4 mm diameter
Collection Instructions:
1. Wash biopsy site with an antiseptic soap.
2. Thoroughly rinse area with sterile water.
3. Do not use alcohol or iodine preparations.
4. A local anesthetic may be used.
5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | Clotted blood |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Refrigerated | ||
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/8696 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
Method Description Describes how the test is performed and provides a method-specific reference
The detection of the deletion of SRY is based on FISH of the critical region on the short arm of the Y chromosome. Ten metaphase cells are examined for the presence of the critical region loci (SRY) at Yp11.3 (orange signal) and the control probe at the X centromere (green signal). In metaphase cells from normal males, the SRY probe signal will be present on the Y chromosome and normal females will not exhibit a SRY probe signal. Patients with a cryptic translocation of X and Y will exhibit an SRY signal on the distal short arm of an X chromosome. (Van Dyke DL: Unpublished Mayo information)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
88271 x 2-DNA probe, each
88273-Chromosomal in situ hybridization
88291-Interpretation and report
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 23296 | Specimen | 31208-2 |
| 23297 | Specimen ID | N/A |
| CG249 | Source | N/A |
| 23299 | Order Date | N/A |
| CG251 | Reason For Referral | 42349-1 |
| 23301 | Method | In Process |
| 23302 | Result | In Process |
| 23303 | Interpretation | 69965-2 |
| 23304 | Amendment | In Process |
| 23305 | Consultant | N/A |
| 23306 | Released Date | N/A |
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