AlphaID™ Testing:
AAT Genotyping Assay
AlphaIDTM Testing:
AAT Genotyping Assay
What is the Impact of Alpha-1 Antitrypsin?
Alpha-1 Antitrypsin (AAT), mainly produced in the liver, protects lungs from damage during inflammatory or infectious episodes. AAT deficiency (AATD) is a rare genetic condition that can cause serious lung and/or liver disease, including chronic obstructive pulmonary disease (COPD), chronic bronchitis, cirrhosis, and liver cancer.1,2
Emphysema: Approximately two-thirds of people with AATD will experience early-onset emphysema.2
Advanced Liver Fibrosis and Cirrhosis: Reports indicate that advanced liver fibrosis occurs ~25% of patients with AATD, while cirrhosis is observed in ~11% of cases.5
Liver Disease Progression: Approximately 15% of adults with AATD develop liver damage (cirrhosis) due to scar tissue formation in the liver.6
90% of people with AATD are undiagnosed.
Inhered AATD: Severe inherited AATD affects about 1 in 3000 people in the US,3 and approximately 90% of them are undiagnosed; this leaves them ineligible for both currently approved and investigational AATD-specific treatments.1
Liver Transplantation: In adults with AATD-related chronic liver disease, 14.7% may require liver transplantation.7
People who may be harboring AATD and for whom AATD screening may be appropriate include those with COPD, unexplained bronchiectasis, unresponsive asthma, necrotizing panniculitis, or unexplained chronic liver disease, and first-degree relatives of those with AATD.2,4
The American Thoracic Society recommends screening all patients with COPD and treatment-resistant asthma. Screening may lead to earlier diagnosis and treatment.5
Facts & Logistics
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TURNAROUND TIME: Results will be available within 5 business days after the sample is received at the laboratory |
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ACCURACY: The assay demonstrated 100% concordance with bi-directional Sanger sequencing, ensuring the reliability of its results during FDA approval |
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REPORTING: Results are processed using specialized analysis software to identify the genetic variants. Reports are provided by secure fax, email, portal and/or the respective EMR |
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SAMPLE STABILITY: The buccal swab is stable for 60 days at room temperature |
*AlphaID™ CONFIRM uses a fingerstick blood collection kit, with dried blood spot card, to confirm the genotype and report the alpha-1 antitrypsin serum level.
AlphaID™ analysis is conducted by TrilliumBiO, a certified, independent laboratory, free of charge and may not be billed to patients or insurers. Results are strictly confidential and only shared with the ordering clinician.
The receipt of these free testing services does not create any expectation or obligation to purchase or use any product or service offered by any manufacturer.
Screening patients with COPD for AATD with AlphaID™
The Alpha-1 Antitrypsin (AAT) Genotyping Test is a polymerase chain reaction (PCR) and hybridization-based diagnostic test. It is used to detect and identify 14 genetic variants in the SERPINA1 gene2 which helps diagnose individuals with AATD.
The AlphaID™ screening test uses a buccal swab collected in-office by a healthcare professional. A negative result rules out alpha-1 as a contributing cause of COPD; a positive variant requires confirmatory diagnosis.
QUICK & COMPREHENSIVE
AlphaID™ EMR Integration
| STREAMLINED WORKFLOW Quick test ordering directly within your EMR |
SEAMLESS DATA MANAGEMENT Automatically generates requisition forms from your EMR and sends test results directly to the patient’s chart—no manual data entry or separate logins |
AUTOMATED PATIENT IDENTIFICATION Built-in flags within the EMR identify patients who meet screening criteria, ensuring no patient is overlooked |
| REAL-TIME UPDATES Instant notifications when test specimens arrive at Trillium Lab and when results are ready, enhancing the efficiency |
SECURITY AND COMPLIANCE Secure data transfer between the health system and lab through protocols like SFTP or VPN, based on customer preference |
ENHANCED EFFICIENCY Reduces time and effort for screening, diagnosis, and management of AATD by integrating the entire process within the existing EMR infrastructure |
AlphaID™ EMR integration is designed to make the screening process for AATD smooth and efficient, ensuring a timely and accurate diagnosis while minimizing administrative burdens.
References: 1. Brantly M, Campos M, Davis AM, et al. Detection of alpha-1 antitrypsin deficiency: The past, present and future. Orphanet J Rare Dis.
2020;15(1):96. doi:10.1186/s13023-020-01352-5 2. Dasí F. Alpha-1 antitrypsin deficiency. Med Clín (Barc). 2024;162(7):336-342. doi:10.1016/j.medcli.2023.10.014 3. Silverman EK. Genetics of COPD. Annu Rev Physiol. 2020;82:413-431. doi:10.1146/annurev-physiol-021317-121224 4. Sandhaus RA, Turino G, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. doi:10.15326/jcopdf.3.3.2015.0182 5. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900. 5. ERS Publications. Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews. March 23, 2022. Accessed March 17, 2025. https://publications.ersnet.org/content/errev/31/163/210262 6. Medline Plus. Alpha-1 antitrypsin deficiency. September 15, 2021. Accessed March 17, 2025. https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/ 7. COPD Foundation. Alpha-1 Antitrypsin Deficiency-Mediated Liver Toxicity: Why Do Some Patients Do Poorly? What Do We Know So Far? December 11, 2019. Accessed March 17, 2025. https://journal.copdfoundation.org/jcopdf/id/1279/Alpha-1-Antitrypsin-Deficiency-Medicated-Liver-Toxicity-Why-Do-Some-Patients-Do-Poorly-What-Do-We-Know-So-Far?utm_source=chatgpt.com
QUICK & COMPREHENSIVE
AlphaID™ EMR Integration
| STREAMLINED WORKFLOW Quick test ordering directly within your EMR |
| SEAMLESS DATA MANAGEMENT Automatically generates requisition forms from your EMR and sends test results directly to the patient’s chart—no manual data entry or separate logins |
| AUTOMATED PATIENT IDENTIFICATION Built-in flags within the EMR identify patients who meet screening criteria, ensuring no patient is overlooked |
| REAL-TIME UPDATES Instant notifications when test specimens arrive at Trillium Lab and when results are ready, enhancing the efficiency |
| SECURITY AND COMPLIANCE Secure data transfer between the health system and lab through protocols like SFTP or VPN, based on customer preference |
| ENHANCED EFFICIENCY Reduces time and effort for screening, diagnosis, and management of AATD by integrating the entire process within the existing EMR infrastructure |
AlphaID™ EMR integration is designed to make the screening process for AATD smooth and efficient, ensuring a timely and accurate diagnosis while minimizing administrative burdens.
References: 1. Brantly M, Campos M, Davis AM, et al. Detection of alpha-1 antitrypsin deficiency: The past, present and future. Orphanet J Rare Dis.
2020;15(1):96. doi:10.1186/s13023-020-01352-5 2. Dasí F. Alpha-1 antitrypsin deficiency. Med Clín (Barc). 2024;162(7):336-342. doi:10.1016/j.medcli.2023.10.014 3. Silverman EK. Genetics of COPD. Annu Rev Physiol. 2020;82:413-431. doi:10.1146/annurev-physiol-021317-121224 4. Sandhaus RA, Turino G, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. doi:10.15326/jcopdf.3.3.2015.0182 5. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900. 5. ERS Publications. Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews. March 23, 2022. Accessed March 17, 2025. https://publications.ersnet.org/content/errev/31/163/210262 6. Medline Plus. Alpha-1 antitrypsin deficiency. September 15, 2021. Accessed March 17, 2025. https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/ 7. COPD Foundation. Alpha-1 Antitrypsin Deficiency-Mediated Liver Toxicity: Why Do Some Patients Do Poorly? What Do We Know So Far? December 11, 2019. Accessed March 17, 2025. https://journal.copdfoundation.org/jcopdf/id/1279/Alpha-1-Antitrypsin-Deficiency-Medicated-Liver-Toxicity-Why-Do-Some-Patients-Do-Poorly-What-Do-We-Know-So-Far?utm_source=chatgpt.com
