Fragile X-associated primary ovarian insufficiency (FXPOI)
18 days (In some cases, additional time may be required for confirmatory or reflex tests.)
Polymerase chain reaction (PCR) followed by capillary electrophoresis, methylation PCR analysis and reflex to AGG interruption analysis when appropriate
Special Instructions To test foetal specimens, including cord blood, order test code 481718, Fragile X Syndrome, Foetal Analysis. Cause for Rejection: Frozen or haemolysed specimen, quantity not sufficient for analysis, improper container.
Accredited Laboratory Partner
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Genetic analysis used to diagnose Fragile X Syndrome, a leading cause of inherited intellectual disability and autism spectrum disorders. It detects mutations in the FMR1 gene, particularly CGG repeat expansions, which lead to gene silencing and reduced protein production necessary for normal brain development.
Whole Blood or PurFlock buccal swab kit or oragene Dx saliva kit
8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes, or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit
No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.
Standard phlebotomy. Follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
| Temperature | Period |
|---|---|
| Room temperature | Whole blood: 14 days Buccal: 60 days Saliva: 60 days |
| Refrigerated | Whole blood: 30 days |
Fragile X-associated primary ovarian insufficiency (FXPOI)
18 days (In some cases, additional time may be required for confirmatory or reflex tests.)
Polymerase chain reaction (PCR) followed by capillary electrophoresis, methylation PCR analysis and reflex to AGG interruption analysis when appropriate
Special Instructions To test foetal specimens, including cord blood, order test code 481718, Fragile X Syndrome, Foetal Analysis. Cause for Rejection: Frozen or haemolysed specimen, quantity not sufficient for analysis, improper container.
Accredited Laboratory Partner
Contact Technical Support
Genetic analysis used to diagnose Fragile X Syndrome, a leading cause of inherited intellectual disability and autism spectrum disorders. It detects mutations in the FMR1 gene, particularly CGG repeat expansions, which lead to gene silencing and reduced protein production necessary for normal brain development.
Whole Blood or PurFlock buccal swab kit or oragene Dx saliva kit
8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit
Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes, or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit
No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.
Standard phlebotomy. Follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
| Temperature | Period |
|---|---|
| Room temperature | Whole blood: 14 days Buccal: 60 days Saliva: 60 days |
| Refrigerated | Whole blood: 30 days |