- Home
- Health Tests
- Allergy
- Anaemia
- Andrology
- Autoimmune
- Biochemistry
- Blood Clotting
- Blood Group
- Bone Health
- Bowel Health
- Cancer Related
- Cardiac Health
- Coagulation
- Diabetes
- Fertility
- Genetics
- Haematology
- Health Checks
- Hormones
- Immunity
- Immunology
- Infections
- Inflamations
- Liver Health
- Men's Health
- Microbiology
- Molecular Biology
- Occupational Health
- Pathology
- Pregnancy
- Screen for Drug of Abuse
- Sexual Health
- Thyroid Health
- Vitamins
- Vitamins and Minerals
- Women's Health
- Genetic Tests
- MBMC
- MBMSK
- Aesthetic medicine
- Allergology
- Anatomical Pathology
- Andrology
- Bone Skin And Immune Diseases
- Cardiology
- Cardiovascular
- Custom Panel
- Cytohistology
- Dentistry
- Dermatology
- Endocrinology
- Forensic
- Gastroenterology
- Geriatrics
- Gynecology
- Hematology
- Hepatology
- Immunology
- Infectiology
- Infectivology
- Maxillofacial surgery
- Metabolic diseases
- Miscellaneous
- Neonatology
- Nephrology
- Neurology
- Nutrigenetics
- Nutrition
- Oncology
- Ophthalmology
- Orthopedics
- Otolaryngology
- Pediatrics
- Pharmacogenetics
- Pneumology
- Prenatal
- Reproduction
- Rheumatology
- Senology
- Sports medicine
- Urology
- PrenatalSAFE® NIPT
- Cancer Screening
- Kits & Supplies
- Services
- About Us
- 0
- £0.000
- Sign in
Description
The SERPINA1 gene encodes alpha-1-antitrypsin (AAT), also known as protease inhibitor (PI), a major plasma serine protease inhibitor (serpin). Serpins control several types of chemical reactions by inhibiting the activity of certain enzymes. AAT complexes predominantly with elastase, but also with trypsin, chymotrypsin, thrombin, and bacterial proteases. The most important inhibitory action of AAT is that against neutrophil elastase (ELANE, OMIM: 130130), a protease that degrades elastin of the alveolar walls as well as other structural proteins of a variety of tissues (Cox, 2001).
External Information
Click here for more information about the Alpha-1-Antitrypsin deficiency, SERPINA1 whole gene NGS genetic test.Additional information
Samples | EDTA |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 1 |
Genes / Chromosomes / SNPs | SERPINA1 |
Related diseases | |Antitrypsin-alpha-1 deficiency |
External Information | Click here for more information about the Alpha-1-Antitrypsin deficiency, SERPINA1 whole gene NGS genetic test. |