Sex-Determining Region Y, Yp11.3 Deletion, FISH
Use
Detects the deletion or addition of the SRY gene in conjunction with conventional chromosome studies. It is used for detecting the presence or absence of the SRY gene in patients with specific karyotypes and phenotypically normal external genitalia, aiding in diagnosing 46,XX testicular disorder of sex development and 46,XY complete gonadal dysgenesis.
Special Instructions
Testing must be ordered alongside conventional chromosome studies such as Chromosome Analysis, Congenital Disorders, Blood or Amniotic Fluid. A reason for testing must be provided, though testing will not be rejected if omitted. Inform the laboratory of the gestational age during amniocentesis, and discard the first 2 mL of amniotic fluid for optimal results.
Limitations
This test is not FDA approved and is recommended to be used alongside other established methods to confirm SRY deletions/duplications. It is not designed to detect low-level mosaicism and cannot substitute a complete cytogenetic analysis. Interfering factors such as improper specimen handling, excessive transport time, and contamination may affect results.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
LOINC Codes
- 81748-6
- 50397-9
- 69965-2
- 62356-1
- 42349-1
- 31208-2
- 85069-3
- 48767-8
- 18771-6
- 62364-5
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
20 to 25 mL
Minimum Volume
5 mL
Container
Amniotic fluid container
Collection Instructions
Optimal collection during 14 to 18 weeks of gestation. Discard first 2 mL of amniotic fluid.
Storage Instructions
Specimen cannot be frozen.