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General |
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| Clinical Use: | The 3 gene reproductive carrier screening is a genetic screening test for carrier status for any of the three common genetic disorders cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. Females are tested first and if found to be a carrier of either cystic fibrosis or spinal muscular atrophy, an additional test of the relevant gene will be offered to her partner (full details will accompany the test report). Fragile X syndrome is screened in females only. PathWest currently assists in send-away for this test. There is no cost associated for Medicare-eligible patients. |
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| Availability: | Testing is not performed at PathWest. Samples will be forwarded to Clinipath for testing. Reports are issued directly from the external provider to the requesting doctor. For results enquiries please contact Clinipath directly. |
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| Aliases/Synonyms: | Carrier Reproductive Screening, Cystic Fibrosis, Fragile X, Spinal Muscular Atrophy, Preconception Genetic Carrier Screening, Prenatal Genetic Screening, Prepair Genetic Carrier Screening, Reproductive Carrier Screening, Standard Reproductive Carrier Screening, Three Gene Screening, | |||||||||
| Code: | XRCSS | |||||||||
| Handling Instructions (to laboratory): | Send sample ambient. | |||||||||
| Hyperlink: | https://pathwest.health.wa.gov.au/Our-Services/Clinical-Services/Diagnostic-Genomics/Prenatal-Perinatal-Diagnosis | |||||||||
| Reference Interval: |
Not applicable |
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Collection Requirements |
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| Container: | EDTA (LAVENDER), | |||||||||
| Sample Type: | See container | |||||||||
| Minimum Collection Volume: | 2mL | |||||||||
| Collection Instructions: | Samples can be collected at any PathWest collection centre. Non-PathWest request forms for reproductive carrier screening are permitted, provided request is for Cystic Fibrosis, Fragile X & Spinal Muscular Atrophy (SMN1/SMA) gene testing only. For collection enquiries, please contact PathWest QEII Sendouts on 6383 4074. For AssurePlus expanded reproductive carrier screening, please refer to the separate test directory entry. |
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Processing Requirements |
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| Alternate Containers: |
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| Processing Instructions: | Do not centrifuge sample. Store sample ambient. |
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| Minimum Assay Volume: | 2mL | |||||||||
| Stability: | 7 days ambient | |||||||||
| Transport Instructions (to testing laboratory): | Send sample ambient. | |||||||||
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Testing Locations |
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| Performed at: |
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Last Updated : 12-12-2024 08:07 |
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