Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood)
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).
| 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 |
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.
Fluorescence In Situ Hybridization (FISH)
Sex Determining Region of Y
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.
Varies
This test must be ordered in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood).
Advise Express Mail or equivalent if not on courier service.
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.
| Question ID | Description | Answers |
|---|---|---|
| CG717 | Reason for Referral | |
| CG718 | Specimen |
Amniotic Fluid Autopsy Blood Chorionic Villi Fixed Cell Pallet Products of Conception or Stillbirth Skin Biopsy |
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:
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: 4 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.
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
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 Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Refrigerated (preferred) | ||
| Ambient | |||
Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood)
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).
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.
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.
An interpretive report will be provided.
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.
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
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
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/
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)
Monday through Friday
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.
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)
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| 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 |