Haematology
| Full details for "Prothrombin gene mutation analysis". | |
|---|---|
Name |
Prothrombin gene mutation analysis |
Alternative name/Profile |
PTGA, G20210A, Genetic testing for thrombophilia |
Department |
Haematology |
Investigation |
|
Specimen type |
Peripheral Blood |
Sample type |
|
Sample container & volume |
1 x 4ml Purple EDTA sample |
Frequency of analysis |
Test is performed as batch analysis. Frequency as required within turnaround time. |
Turnaround time |
8 weeks |
Availability |
Please refer to thrombophilia testing guidelines below prior to ordering this test. Routine hours Monday - Friday 9am-5pm. |
Notes |
Please follow links below to the specific thrombophilia request form and the guidelines for thrombophilia testing. Testing for APCR, Factor V Leiden and Prothrombin gene mutation analysis requires genetic consent. A fully completed thrombophilia request form should be sent with samples for testing. The coagulation team can be consulted for advice for thrombophilia screen requests. Samples from St James's Hospital must be received in the National Coagulation Laboratory, Centre for Laboratory Medicine and Molecular Pathology, by 4pm Monday - Friday. Samples from external institutions can be refrigerated and sent to the National Coagulation Laboratory, Centre for Laboratory Medicine and Molecular Pathology, within 5 days of phlebotomy. Enquiries to 01 416 2049 during routine hours, Monday - Friday 9am-5pm. This test is not generally performed during childhood unless specifically requested by a Consultant Paediatric Haematologist. The Coagulation Consultant on-call can be contacted through the hospital switchboard on 01 410 3000. |
Related links |
Thrombophilia Screen Request Form Thrombophilia Mutation Analysis Consent Form Thrombophilia Testing Guidelines Genetic Testing for Thrombophilia - Patient information Leaflet |
Reference range |
Prothrombin (20210G>A) variant analysis G/G: * VARIANT IS ABSENT * Prothrombin (20210G>A) variant analysis G/A: ** HETEROZYGOUS ** Prothrombin (20210G>A) variant analysis A/A: ** HOMOZYGOUS **
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Last updated |
Wed, 26 Feb 2025 16:04:17 GMT |