Test Catalog

Test Id : SRYF

Sex-Determining Region Y, Yp11.3 Deletion, FISH

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

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood)

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

This test is appropriate to aid in detecting the presence or absence of the SRY gene in XX males and XY females. Testing must be ordered in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood).

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test Id Reporting Name Available Separately Always Performed
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_M30 Metaphases, >=10 No, (Bill Only) No
_ML10 Metaphases, 1-9 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_PB1 Probe Set, 1st No, (Bill Only) No

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Fluorescence In Situ Hybridization (FISH)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

SRY, Yp11.3, FISH

Aliases
Lists additional common names for a test, as an aid in searching

Sex Determining Region of Y

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

Specimen Type
Describes the specimen type validated for testing

Varies

Additional Testing Requirements

This test must be ordered in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood).

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

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.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:

 

Supplies: Refrigerate/Ambient Shipping Box, 5 lb (T329)

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.

3. Place the tubes in a Styrofoam container (T329).

4. Fill remaining space with packing material.

Additional Information:

1. Unavoidably, about 1% to 2% of mailed-in specimens are not viable.

2. Bloody specimens are undesirable.

3. If the specimen does not grow in culture, you will be notified within 7 days of receipt.

4. Results will be reported and also telephoned or faxed, if requested.

 

Supplies: Hank's Solution (T132)

Specimen Type: Autopsy

Container/Tube: Sterile container with sterile Hank's balanced salt solution (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.

 

Supplies: CVS Media (RPMI) and Small Dish (T095)

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 (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

 

Supplies: Hank's Solution (T132)

Specimen Type: Products of conception or stillbirth

Container/Tube: Sterile container with sterile Hank's balanced salt solution (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.

 

Supplies: Hank's Solution (T132)

Specimen Type: Skin biopsy

Container/Tube: Sterile container with sterile Hank's balanced salt solution (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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Final Disposition of Fetal/Stillborn Remains (if fetal specimen is sent) in Special Instructions.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Amniotic Fluid: 5 mL

Autopsy, Skin Biopsy: 4 mm

Blood: 2 mL

Chorionic Villi: 5 mg

Fixed Cell Pellet: 1 pellet

Products of Conception: 1 cm(3)

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Refrigerated (preferred)
Ambient

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

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood)

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

This test is appropriate to aid in detecting the presence or absence of the SRY gene in XX males and XY females. Testing must be ordered in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood).

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results. Additional charges will be incurred for application of all reflex probes performed. Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

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

This test is appropriate for individuals with a 46,XX karyotype and phenotypically normal male external genitalia, a 46,XY karyotype and phenotypically normal female external genitalia, clinical features suggestive of 46,XX testicular disorder of sex development with normal male external genitalia, and clinical features suggestive of 46,XY complete gonadal dysgenesis.

 

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 (CHRCB / Chromosome Analysis, 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

Because this FISH test is not approved by the U.S. Food and Drug Administration, it is important to confirm SRY deletions/duplications by other established methods, such as clinical history or physical evaluation.

Chromosomal microarray (CMAC / Chromosomal Microarray, Congenital, Blood or CMAP / Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling) may be the more appropriate test to detect unbalanced translocations, deletions or duplications.  

 

Interfering factors

-Cell lysis caused by forcing the blood quickly through the needle

-Use of an improper anticoagulant or improperly mixing the blood with the anticoagulant

-Excessive transport time

-Inadequate amount of specimen may not permit adequate analysis

-Improper packaging may result in broken, leaky, and contaminated specimen during transport

-Exposure of the specimen to temperature extremes (freezing or >30 degrees C) may kill cells and interfere with attempts to culture cells

-In prenatal specimens, a bloody specimen may interfere with attempts to culture cells and contamination by maternal cells may cause interpretive problems

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
Recommendations for in-depth reading of a clinical nature

1. Ostrer H: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis. 2008 May 21 (Updated 2009 Sep 15). In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews (Internet). Seattle (WA): University of Washington, Seattle; 1993-2014. Available at http://www.ncbi.nlm.nih.gov/books/NBK1547/Accessed 05/27/2013

2. Vilain EJ: 46,XX Testicular Disorder of Sex Development. 2003 Oct 30 (Updated 2009 May 26). In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews (Internet). Seattle (WA): University of Washington, Seattle; 1993-2014. Accessed 05/27/2013. Available at http://www.ncbi.nlm.nih.gov/books/NBK1416/

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

This test is performed using a commercially available enumeration strategy probe set including SRY (Yp11.3) and X chromosome control probe (DXZ1). Metaphase cells are examined for the presence of SRY.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

7 to 10 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Amniotic Fl. (remaining supernatant/whole fluid aliquots): Discarded 14 days after report. Blood: 4 weeks. Products of Conception (identifiable fetal tissue): Cremated quarterly after results reported. All Other Specimens: Discarded when results reported.

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

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 Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

88271x2, 88291-DNA probe, each (first probe set), Interpretation and report

88271x2-DNA probe, each; each additional probe set (if appropriate)

88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88273 w/modifier 52-Chromosomal in situ hybridization, less than 10 cells (if appropriate)

88273-Chromosomal in situ hybridization, 10-30 cells (if appropriate)

88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)

88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)

LOINC® Information

Test Id Test Order Name Order LOINC Value
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
SRYF SRY, Yp11.3, FISH 81748-6
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
52003 Result Summary 50397-9
52005 Interpretation 69965-2
54565 Result 62356-1
CG717 Reason for Referral 42349-1
CG718 Specimen 31208-2
52006 Source 31208-2
52007 Method 85069-3
52004 Additional Information 48767-8
52008 Released By 18771-6
53850 Disclaimer 62364-5

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

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Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports