Fragile X Tremor, ataxia syndrome (FXTAS)
Premature ovarian failure (POF)
| OMIM# | |
| Gen | FMR1 (Xq27.3) |
| Inheritance | X-linked recessive. |
| Mutations | CGG-repeat expansion in the pre-mutated area can lead to FXTAS or POF. |
| Specimen | 7,5 ml blood in EDTA-glass. |
| Analysis | Pre-screening with PCR. Determination of the repeat-length with Southern blotting technique. |
| Delivery | Mail. Monday to Friday. |
| Turn around time | 6 weeks. |
| Prenatal diagnosis | Only by prior arrangement and only for known familial amplifications. Turn around time: less than 2 weeks, contact the attending doctor for further information. |