Last update: 05/06/2006
Background to disease
Gender assignment using the markers AMELX, AMELY and SRY can be done when babies are born with ambiguous genitalia. DNA analysis can rule be used to help detect Y chromosome mosaicism in an essentially female karyotype. SRY is the primary testis determination factor in man and mutations in SRY can give rise to XY females with gonadal dysgenesis while translocations of part of the Y chromosome containing SRY to the X chromosome can result in XX males.
Laboratory Analysis
Contact scientist: Carol Delaney/Ruth Charlton
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Test |
Target reporting time (working days) |
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1. |
Multiplex PCR to amplify AMELX, AMELY and SRY |
10 |
| 2. | Sequencing of SRY | 40 |