Test code: 2825
Mnemónic code: GA1AT
Effective update from 18/03/2024
Effective update from 18/03/2024
PREVIOUS | NEW |
Description: Alpha 1-Antitrypsin Deficiency (SERPINA1) genotype, total blood Method: Amplification Refractory Mutation System (ARMS-PCR) Result format: R1 Result Reference Values: Technique: Qualitative detection of Pi*S, Pi*Z and Pi*M (without variants) alleles of the Alpha-1 A gene (AAT) in peripheral whole blood by PCR-ARMS. The congenital deficiency of alpha-1 AT is the most common genetic cause of increased risk of developing lung and liver disease. Most individuals affected by this deficit are carriers of Pi*ZZ or Pi*SZ genotypes. | Description: ALPHA-1-ANTITRYPSIN (PI*S and Pi*Z GENOTYPE), DEFICIENCY· SERPINA1 · RT-PCR Method: Multiplex PCR/Real-Time PCR Result format: R1 Sample R2 Result References Values: Interpretation Alpha-1-antitrypsin deficiency (AAT) is autosomal recessive inherited and it is the most common genetic cause for increased risk of developing lung and liver diseases. PI*M allele is associated with an AAT normal activity and PI*Z allele is the most common variant that causes AAT deficiency (homozygosity is associated to high risk of both emphysema and liver disease). PI*SZ genotype presents a mildly increased risk of lung disease (not liver) while PI*SS genotype it is not related to none of them. PI*MS and PI*MZ genotypes might also be associated with a very low-moderate decrease in AAT serum levels which may confere (in case of Pi*MZ) a slightly increased risk for emphysema and, eventually, liver disease. This report should be evaluated by a specialist in the context of all available clinical and family information in conjunction with other laboratory findings. Genetic counselling is recommended. Test method DNA extraction followed by real-time PCR amplification (CE-IVD commercial method) for detection of SERPINA1 gene regions including variants PI*S (rs17580 c.863A>T p.Glu288Val according to reference sequence NM_000295.4; Glu264Val or Pi*S Allele according to traditional nomenclature), PI*Z (rs28929474 c.1096G>A p.Glu366Lys according to reference sequence NM_000295.4; Glu342Lys or Pi*Z Allele according to traditional nomenclature) related to alpha-1-antitrypsin congenital deficiency. Test limitations Variants other than those studied are not analyzed. Normal/polymorphic genomic variation in the patient may interfere with variant detection in the sample. References Stoller et al. (2006, updated 2023). Gene Reviews. Fregonese et al. (2008). Orphanet J Rare Dis, 3(16). Brode et al. (2012). CMAJ, 184(12). Strnad et al. (2020). NEJM 382;15. Version of Test: 17 |
Find the record of the test by clicking here
No comments:
Post a Comment