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

Useful For

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

Reflex 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

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.

 

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

SRY, Yp11.3, FISH

Specimen Type

Varies


Specimen Required


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.

 

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 (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 (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 (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 (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.

 

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.


Specimen Minimum Volume

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)

Specimen Stability Information

Specimen Type Temperature Time
Varies Refrigerated (preferred)
  Ambient 

Clinical Information

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

An interpretive report will be provided.

Interpretation

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.

Clinical Reference

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 from: 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. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1416/ Accessed 05/27/2013

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m. to 5 p.m. CST.

Analytic Time

7 days

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

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 Code Information

Test ID Test Order Name Order LOINC Value
SRYF SRY, Yp11.3, FISH In Process

 

Result ID Test Result Name Result LOINC Value
52003 Result Summary 50397-9
52005 Interpretation In Process
54565 Result In Process
CG717 Reason for Referral 42349-1
CG718 Specimen 31208-2
52006 Source 31208-2
52007 Method 49549-9
52004 Additional Information 48767-8
53850 Disclaimer 62364-5
52008 Released By No LOINC Needed

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 (T576) is available in Special Instructions.

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

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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