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The AlphaID™ At Home Genetic Health Risk Service uses qualitative genotyping to detect clinically relevant genetic variants associated with alpha-1 antitrypsin deficiency (AATD) in genomic DNA isolated from human saliva collected from individuals ≥ 18 years with ORAcollect Dx OCD-100.014 for the purpose of reporting and interpreting Genetic Health Risks (GHR).

This Service is indicated for reporting 14 genetic variants in the SERPINA1 gene: PIS; PIM procida; PIM malton; PIS iiyama; PIQ0 granite falls; PIQ0 west; PIQ0 bellingham; PIF; PIQ0 mattawa; PIQ0 clayton, and PI*M heerlen. The report describes if a person is at an increased risk of developing either liver disease linked to AATD. The report does not describe a person's overall risk of developing lung and/or liver disease. AATD is more common in persons of European descent.

The AlphaID™ At Home Genetic Health Risk Service (AlphaID At Home) uses qualitative genotyping to detect clinically relevant genetic variants associated with alphal-antitrypsin deficiency (AATD) and provides a report describing if a person is at risk of developing either lung and/or liver disease linked to AATD. This Service is direct-to-consumer and intended for an Over-the Counter (OTC) use.

The AlphaID™ At Home Genetic Health Risk Service is composed by AlphaID™ At Home Saliva Collection kit for human saliva sample collection (ORAcollect®·Dx OCD-100.014), A1AT Genotyping Test for the genetic analysis and detection of genetic variants associated with alpha-1 antitrypsin deficiency (AATD), and AlphaID™ At Home Genetic Health Risk Service website and result portal software to provide the contents and the procedure to order and use the over the counter (OTC) Service.

A consumer's saliva is self-collected using custom version ORAcollect Dx (model OCD-100.014) device manufactured by DNA Genotek, Inc (See K212745) which consists of collection tube containing a stabilizing buffer solution. Once the sample is collected, it is shipped to Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory for processing.

Human DNA from the saliva sample is isolated and processed with the A1AT Genotyping Test device (K211115) that provides results on 14 genetic variants in the SERPINA / gene: PIS; PIZ; PIM procida; PIM malton; PIS iiyama; PIO0 granite falls: PIO0 west: PIO0 bellingham: PIF; PIP lowell; PIO0 mattawa; PIQ0 clayton, and PI*M heerlen.

Briefly, genomic DNA extracted from human saliva is amplified and biotinylated by multiplex PCR and PCR products are denatured and hybridized to oligonucleotide probes coupled to color-coded beads. Hybridized DNA is labeled with a fluorescent conjugate and the resulting signal is detected with a Luminex® 200™ system. Raw fluorescence data is processed with the A1AT Genotyping Test ANALYSIS SOFTWARE to provide allelic variant genotypes, which are subsequently converted into associated alleles, based on current scientific evidence. Additionally, the software application also provides the type of Genetic Health Risk Report associated with the identified alleles, which is subsequently used as the basis for the generation of personalized reports by the AlphaID™ At Home Genetic Health Risk Service website and result portal.

Depending on the specific variant combination detected, the AlphaID™ At Home Genetic Health Risk Service provides the individuals' genetic health risk for developing lung and liver disease linked to AATD. Personalized reports, in an easy-to-understand format are generated for each consumer that provide results of the testing performed.

Here's a breakdown of the acceptance criteria and study information for the AlphaID™ At Home Genetic Health Risk Service, based on the provided text:

1. Table of Acceptance Criteria and Reported Device Performance

• Increased risk: >80% development.
• Slightly at Increased risk: 20-80% development.
• Not likely at increased risk:

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The Progenika A1AT genotyping kit is a qualitative, polymerase chain reaction (PCR) and hybridization-based in vitro diagnostic test to be used with the Luminent (with xPONENT software) for the simultaneous detection and identification of 14 allelic variants and their associated alleles found in the Alpha-1 antitrypsin (AIAT) codifying gene SERPINA1. The test is intended for use with genomic DNA extracted from human whole blood samples collected as dry blood spots (DBS) or in K2-EDTA or from human saliva samples collected as buccal swabs using ORAcollect Dx OCD-100. The A1AT allelic variant genotypes and associated allele results, when used in conjunction with clinical findings and other laboratory tests, are intended as an aid in the diagnosis of individuals with A1AT deficiency (A1ATD). The kit is indicated for prescription use only.

Alpha 1 antitrypsin (A1AT) Genotyping Test utilizes Luminex xMAP technology. Genomic DNA is extracted from DBS, from human EDTA anticoagulated whole blood or from human saliva samples collected as buccal swabs using ORAcollect-Dx OCD-100. Extracted DNA is amplified and biotinylated by multiplex PCR and PCR products are denatured and hybridized to oligonucleotide probes coupled to color-coded beads. Hybridized DNA is labeled with a fluorescent conjugate and the resulting signal is detected with a Luminex® 200 system. Raw data obtained is processed with the A1AT Genotyping Test ANALYSIS SOFTWARE in order to obtain the final report. The A1AT Genotyping Test ANALYSIS SOFTWARE algorithm converts the allelic variant genotypes into associated alleles, based on the current literature.

The A1AT Genotyping Test Kit is composed of 4 reagent components (A1AT PCR Master Mix, A1AT Beads Master Mix, SAPE, SAPE Dilution Buffer) required to perform all the abovementioned processing steps. The A1AT Genotyping Test ANALYSIS SOFTWARE, instructions for use and other necessary files are uploaded on a Grifols website. Two kit configurations are available: for 48 or 192 tests (different amounts of the same reagent components are provided in each case).

The provided document describes the A1AT Genotyping Test. This 510(k) submission (K211115) is for a modified version of a previously cleared device (K192858), primarily involving a software update. Therefore, much of the performance data refers back to the original submissions (K192858 and K171868).

Here's a breakdown of the acceptance criteria and study information based on the provided text:

1. Table of Acceptance Criteria and Reported Device Performance

2. Sample Sizes and Data Provenance

• Test Set Sample Size:
  • LoD: 20 replicates of nine DNA dilutions for a "Sample Panel" (total of 180 tests per lot, across two lots used).
  • Precision (Lot-to-Lot): Five DNA samples ("Sample Panel") tested in triplicate, with three different reagent lots, by two operators, on six non-consecutive days, alternating between two Luminex instruments (5 samples * 3 replicates * 3 lots * 2 operators * 6 days = 540 tests, plus additional factors for instruments).
  • Accuracy: For the predicate device, 147 samples were used. The document refers to K171868 and K192858 for specific method comparison data for the modified device, so the exact number for the modified device's accuracy testing isn't explicitly stated but would be similar to or larger than the predicate's 147.
• Data Provenance: Not explicitly stated as "country of origin for data" or "retrospective/prospective." However, the applicant is Progenika Biopharma S.A. based in Spain, suggesting the studies likely occurred in Spain or affiliated regions. The nature of the studies (analytical performance) implies laboratory-based testing, which can be seen as a form of controlled prospective data collection for the device's technical performance.

3. Number of Experts and Qualifications for Ground Truth (Test Set)

• The document does not mention the use of experts to establish ground truth for the test set for the analytical performance studies described (LoD, Precision). These studies focus on the device's ability to consistently and accurately detect specific genetic variants based on known DNA samples.
• For Accuracy (Method Comparison), the ground truth was established by Bi-directional Sanger sequencing. This is considered a gold standard in genetic sequencing, not typically requiring "experts" to interpret the sequence output, but rather highly skilled laboratory personnel and bioinformaticians.

4. Adjudication Method (Test Set)

• Not applicable as the ground truth for analytical performance studies is typically objective (e.g., known DNA concentrations, Sanger sequencing results). The results are compared directly to these objective standards.

5. Multi-Reader Multi-Case (MRMC) Comparative Effectiveness Study

• No, an MRMC comparative effectiveness study was not done. This device is an in vitro diagnostic (IVD) genetic test, which generates objective results (detection of allelic variants). The performance evaluation focuses on the analytical accuracy and precision of the device itself, rather than human interpretation of complex images or clinical scenarios that would necessitate an MRMC study.

6. Standalone Performance Study (Algorithm Only)

• Yes, a standalone performance study was done. The entire "Performance Data" section (H) describes the analytical studies to determine the device's capabilities (LoD, precision, stability, accuracy). These are evaluations of the algorithm and the assay itself, demonstrating its standalone performance from DNA input to reported genotype. The device includes "A1AT Genotyping Test ANALYSIS SOFTWARE" which processes raw data to obtain the final report, indicating its role as a standalone algorithm in the diagnostic process once the PCR and hybridization steps are completed.

7. Type of Ground Truth Used

• For LoD and Precision: Known DNA samples with established genotypes/concentrations were used.
• For Accuracy (Method Comparison): Bi-directional Sanger sequencing was used as the comparator (a gold standard laboratory method) to establish the ground truth for the samples tested.

8. Sample Size for the Training Set

• The document does not explicitly state the sample size used for the training set. This is a 510(k) submission for a device with a software update (v1.0.8.16 from v1.0.6.1). The software's algorithm for converting allelic variant genotypes into associated alleles is based on current literature. It's possible that the "training" for such an algorithm is not based on a 'training set' in the machine learning sense, but rather on established scientific knowledge and rules coded into the software. If any machine learning components were present, their training data is not disclosed here.

9. How the Ground Truth for the Training Set Was Established

• Given that the document refers to the algorithm converting genotypes into alleles "based on the current literature," the ground truth for the "training" (or more accurately, the ruleset development) of the algorithm would be derived from published scientific literature and established genetic associations between allelic variants and their corresponding alleles for the SERPINA1 gene. There is no indication of a specific "training set" of patient samples with prospectively established ground truth for algorithm development in this context.

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