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| Test Name: | Fragile X Screening |
| Compliance: | LDT |
| Test Description: | Fragile X syndrome is an X-linked dominant genetic disorder that is caused by an expansion of the CGG triplet repeat within the FMR1 (Fragile X Mental Retardation 1) gene on the X chromosome. This mutation can cause a range of developmental and cognitive disabilities, as well as physical abnormalities. |
| Methodology: | Polymerase chain reaction (PCR) followed by fragment analysis of CGG repeats |
| Gene Name: | FMR1 |
| Protein Name: | |
| Specimen Requirements: | EDTA Blood (5mL) |
| Storage Condition: | Ambient Temperature / 4℃ (if overnight is needed) |
| Turn Around Time: | 5 working days from day of specimen received |
| OMIM: | |
| Genetic Home Reference: | |
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Personal health information or related information released to HKMPDC relating to the services requested may be subjected to re-disclosure by HKMPDC to health care providers, such as doctors, nurses, and others involved in the delivery of the services.
We may also disclose medical information about you to authorised public health or government officials for public health activities as required by law and accreditation body.
Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 1 July, 2023.
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