FISH, SRY/X Centromere
Also known as: Sex Chromosome Abnormalities, Turner Syndrome, SRY/X Centromere, Sex Reversal, Sex Determining Region
Use
This test is used to detect the SRY chromosome region (Yp11.3) and the X chromosome centromeric region using fluorescence in situ hybridization. It may be useful in cases of discrepancy between chromosomal sex and phenotypic sex, studies of marker chromosomes of suspected sex chromosome origin, and Y chromosome morphology studies. It can detect deletions or duplications involving the SRY gene and assess sex chromosome abnormalities such as sex reversal, Turner syndrome, or disorders of sex development.
Special Instructions
Not provided.
Limitations
Not provided.
Methodology
Chromosomal / Cytogenetics
Biomarkers
Unknown CNV
Copy Number RegionUnknown CNV
Copy Number Region
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2‑5 mL (2‑3 mL for infants)
Minimum Volume
2 mL (2 mL for infants)
Container
Sodium heparin (green‑top tube)
Storage Instructions
Ambient; not frozen
Causes for Rejection
Frozen specimens unacceptable
Other tests from different labs that may be relevant