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.
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).
Submit only 1 of the following specimens:
This test must be ordered in conjunction with conventional chromosome studies (CHRCB / Chromosome Analysis, Congenital Disorders, Blood).
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
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.
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.
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.
1. Invert several times to mix blood.
2. Other anticoagulants are not recommended and are harmful to the viability of the cells.
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.
Products of conception or stillbirth:
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.
4. A local anesthetic may be used.
5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.
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.
-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
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.