Alpha-1 antitrypsin genotyping
Also see Alpha-1 Antitrypsin (AAT) and AAT phenotyping. Measurement of alpha-1 antitrypsin is useful in the investigation of emphysema and unexplained liver disease in adults. In paediatric practice, alpha-1 antitrypsin deficiency may be associated with neonatal jaundice.
| Tube | EDTA |
|---|---|
| ID | 12798 |
| Availability | Weekdays |
| Additional Information | Alpha1-Antitrypsin phenotyping is used as a first-line test to identify deficiency. Genotyping is only indicated when a deficiency phenotype has been identified. Phenotyping is used as a first-line test to identify deficiency. AAT genotyping can be used for the confirmation of the AAT phenotype. The genotyping method will identify the Pi*Z and Pi*S gene products, but assumes all non-S and non-Z are Pi*M. |
| Turn Around | See https://www.immqas.org.uk/TestItem.asp?id=40 for turn around time, allowing an additional 10 working days for sample processing and reporting |
| Send to | Samples should be sent to the department of Clinical Immunology at LGI who will refer to appropriate referral lab (Sheffield PRU) |
| Contact | https://www.leedsth.nhs.uk/a-z-of-services/pathology/specialist-laboratory-medicine-slm/immunology-laboratory/ |
| Advice | https://www.leedsth.nhs.uk/a-z-of-services/pathology/specialist-laboratory-medicine-slm/immunology-laboratory/ |
| Collection Con | No restrictions |
| Frequency | Referred to external laboratory |
| Sample REQ | Blood |
| Ref. Range Notes | See reference range on referral website |
| Units | NA |
| IP Acute TAT | See https://www.immqas.org.uk/TestItem.asp?id=40 |
| IP Routine TAT | See https://www.immqas.org.uk/TestItem.asp?id=40 |
| GP Acute TAT | See https://www.immqas.org.uk/TestItem.asp?id=40 |
| GP Routine TAT | See https://www.immqas.org.uk/TestItem.asp?id=40 |
| Telepath | AATG1L |
| ICE Codes | IAATG |
