Who is the manufacturer of ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY?

Illumina, Inc. filed the 510(k) submission for ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY (K124006).

What is the FDA product code for ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY?

PFR. It is classified under 21 CFR 866.5900 as a Class 2 device in the Immunology panel.

What is the regulatory pathway for ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY?

510(k) clearance (submission type: Traditional).

Who can help prepare an FDA 510(k) submission like ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY?

Innolitics — a medical-device software consultancy — provides regulatory and engineering support for FDA 510(k) submissions. See https://innolitics.com/services/510ks/ or contact https://innolitics.com/contact.

ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY

Q: What are the predicate devices for ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY?

Luminex xTAG® Cystic Fibrosis 60 Kit v2 (K083845).

K124006 · Illumina, Inc. · PFR · Nov 19, 2013 · Immunology

Device Facts

Record ID	K124006
Device Name	ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY
Applicant	Illumina, Inc.
Product Code	PFR · Immunology
Decision Date	Nov 19, 2013
Decision	SESE
Submission Type	Traditional
Regulation	21 CFR 866.5900
Device Class	Class 2
Attributes	Pediatric

Intended Use

The Illumina MiSeqDx™ Cystic Fibrosis 139-Variant Assay is a qualitative in vitro diagnostic system used to simultaneously detect 139 clinically relevant cystic fibrosis disease-causing mutations and variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood specimens. The variants include those recommended in 2004 by the American College of Medical Genetics (ACMG) and in 2011 by the American College of Obstetricians and Gynecologists (ACOG). The test is intended for carrier screening in adults of reproductive age, in confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. The results of this test are intended to be interpreted by a board-certified clinical molecular geneticist or equivalent and should be used in conjunction with other available laboratory and clinical information. This test is not indicated for use for newborn screening, fetal diagnostic testing, preimplantation testing, or for stand-alone diagnostic purposes. The test is intended to be used on the Illumina MiSeqDx™ instrument.

Device Story

System uses genomic DNA from peripheral whole blood; performs library preparation (amplification/indexing) and Sequencing By Synthesis (SBS) on MiSeqDx instrument. Software analyzes sequencing data to detect 139 CFTR gene variants. Used in clinical labs by trained personnel; results interpreted by board-certified clinical molecular geneticists. Output aids diagnosis/carrier screening; used with other clinical/lab data. Benefits include simultaneous detection of clinically relevant CFTR mutations.

Clinical Evidence

Bench testing only. Accuracy assessed using 500 samples (clinical, cell line, synthetic) compared to Sanger sequencing/PCR. Genotype-level positive agreement 100%; negative agreement >99.99%; overall agreement >99.99%. Reproducibility study (3 sites, 2 operators) showed 99.77% positive agreement and 99.88% overall agreement.

Technological Characteristics

Targeted DNA sequencing (SBS). Reversible terminator-based chemistry. Dual-color laser detection. MiSeqDx instrument. RFID-tagged reagents. Software: MOS v1.0.27, RTA v1.16.18, MSR v2.2.30, IWM v1.0.14, UMS v1.0.0.5, MTS v1.0.7. Connectivity: Standalone instrument with networked PC for IWM/UMS.

Indications for Use

Indicated for carrier screening in adults of reproductive age, confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. Not indicated for newborn screening, fetal diagnostic testing, preimplantation testing, or stand-alone diagnostic purposes.

Regulatory Classification

Identification

The CFTR gene mutation detection system is a device used to simultaneously detect and identify a panel of mutations and variants in the CFTR gene. It is intended as an aid in confirmatory diagnostic testing of individuals with suspected cystic fibrosis (CF), carrier identification, and newborn screening. This device is not intended for stand-alone diagnostic purposes, prenatal diagnostic, pre-implantation, or population screening.

Special Controls

*Classification.* Class II (special controls). The special control is FDA's guidance document entitled “Class II Special Controls Guidance Document: CFTR Gene Mutation Detection System.” See § 866.1(e) for the availability of this guidance document.

Predicate Devices

Luminex xTAG® Cystic Fibrosis 60 Kit v2 (K083845)

Related Devices

K132750 — ILLUMINA MISEQDX CYSTIC FIBROSIS CLINICAL SEQUENCING ASSAY · Illumina, Inc. · Nov 19, 2013
K083294 — VERIGENE CFTR NUCLEIC ACID TEST AND VERIGENE CFTR POLYT NUCLEIC ACID TEST · Nanosphere, Inc. · Jul 24, 2009

Submission Summary (Full Text)

{0}------------------------------------------------ K124006 MiSeqDx Cystic Fibrosis System Premarket Notification # 510(k) Summary # GENERAL INFORMATION - Submitted by: Illumina Inc. 5200 Illumina Way San Diego, CA 92122 858-202-4500 (phone) NOV 1 9 2013 - Leanne M. Kiviharju Company Contact: Sr. Director, Regulatory Affairs 858-246-8811 (phone) lkiviharju@illumina.com Date Prepared: November 18, 2013 # DEVICE IDENTIFICATION Assay: | | Trade or Proprietary Name: Illumina MiSeqDx™ Cystic Fibrosis 139-Variant Assay | |----------------------|------------------------------------------------------------------------------------------------------------------------------| | Assay Common Name: | Next generation sequencing cystic fibrosis test | | Classification Name: | CFTR (cystic fibrosis transmembrane conductance regulator) gene mutation detection (21 CFR 866.5900, Product Code PFR) | | Predicate Device: | Luminex xTAG® Cystic Fibrosis 60 Kit v2 (k083845) | {1}------------------------------------------------ # DEVICE DESCRIPTION The Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay consists of library preparation and sample indexing reagents, sequencing reagents and consumables, MiSeqDx instrument and data analysis software. Testing begins with genomic DNA from a peripheral whole blood sample. The genomic DNA is processed through the library preparation steps, which specifically amplifies the intended genomic regions of each sample while also adding the indexes for sample identification. Flow cell capture sequences are also added to the amplified products. The resulting sample libraries are then transferred into a MiSeqDx reagent cartridge which contains all of the reagents required for cluster generation and sequencing (Sequencing By Synthesis). The MiSeqDx Cartridge, MiSeqDx Flow Cell, and MiSeqDx SBS Solution (PR2) are then inserted into the MiSeqDx instrument, which performs cluster generation, sequencing and data analysis. #### INTENDED USE ### Illumina MiSeqDx™ Cystic Fibrosis 139-Variant Assay The Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay is a qualitative in vitro diagnostic system used to simultaneously detect 139 clinically relevant cystic fibrosis disease-causing mutations and variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood specimens. The variants include those recommended in 2004 by the American College of Medical Genetics (ACMG) and in 2011 by the American College of Obstetricians and Gynecologists (ACOG). The test is intended for carrier screening in adults of reproductive age, in confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. The results of this test are intended to be interpreted by a board-certified clinical molecular geneticist or equivalent and should be used in conjunction with other available laboratory and clinical information. This test is not indicated for use for newborn screening, fetal diagnostic testing, pre-implantation testing, or for stand-alone diagnostic purposes. The test is intended to be used on the Illumina MiSeqDxTM Instrument. {2}------------------------------------------------ Image /page/2/Picture/0 description: The image shows the word "illumina" in a simple, sans-serif font. The letters are black and appear to be bolded. There is a superscript symbol after the last letter. # SUBSTANTIAL EQUIVALENCE # MiSeqDx Cystic Fibrosis 139-Variant Assay | Characteristic | Illumina | Luminex (K083845) | |------------------------|---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|-----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------| | Assay Name | Illumina MiSeqDx Cystic Fibrosis 139- Variant Assay | Luminex xTAG®Cystic Fibrosis 60 Kit v2 | | Intended Use | The Illumina MiSeqDx Cystic Fibrosis 139- Variant Assay is a qualitative in vitro diagnostic system used to simultaneously detect 139 clinically relevant cystic fibrosis disease-causing mutations and variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood specimens. The variants include those recommended in 2004 by the American College of Medical Genetics (ACMG) and in 2011 by the American College of Obstetricians and Gynecologists (ACOG). The test is intended for carrier screening in adults of reproductive age, in confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. The results of this test are intended to be interpreted by a board- certified clinical molecular geneticist or equivalent and should be used in conjunction with other available laboratory and clinical information. This test is not indicated for use for newborn screening, fetal diagnostic testing, pre-implantation testing, or for stand-alone diagnostic purposes. The test is intended to be used on the Illumina MiSeqDx™ instrument. | The xTAG® Cystic Fibrosis 60 kit v2 is a device used to simultaneously detect and identify a panel of mutations and variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in human blood specimens. The panel includes mutations and variants currently recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists (ACMG/ACOG) plus some of the world's most common and North American prevalent mutations. The xTAG Cystic Fibrosis 60 kit v2 is a qualitative genotyping test which provides information intended to be used for carrier testing in adults of reproductive age, as an aid in newborn screening, and in confirmatory diagnostic testing in newborns and children. The kit is not indicated for use in fetal diagnostic or pre- implantation testing. The kit is also not indicated for stand- alone diagnostic purposes. | | Assay type | Next generation sequencing test | Qualitative nucleic acid multiplex test | | Variants | 139 clinically relevant variants | 60 CFTR mutations and 4 | | Characteristic | Illumina | Luminex (K083845) | | Detected | | variants (benign polymorphisms) | | Technology | Sequencing by Synthesis (SBS) | Multiplex PCR followed by multiplex allele specific primer extension for genotyping, hybridized to multiplex fluorescent microparticles, detected by flow cytometry. | | Sample Type | Nucleic acid from EDTA anticoagulated blood | Nucleic acid from whole blood anticoagulated with either EDTA or citrate. | | Sample Preparation | DNA extraction using validated laboratory method | Same | | Contra- indications | Not indicated for newborn screening, fetal diagnostic testing, pre-implantation testing, or for stand-alone diagnostic purposes. | The kit is not indicated for use in fetal diagnostic or pre- implantation testing. This kit is also not indicated for stand- alone diagnostic purposes | | Assay Controls | Positive and negative controls required, not supplied | Negative controls required, not supplied. Positive controls recommended, not supplied. | | Instrument System | MiSeqDx instrument | Luminex 100 or 200 IS | {3}------------------------------------------------ ### PERFORMANCE CHARACTERISTICS ### Accuracy Accuracy of the Illumina MiSeqDx Cystic Fibrosis 139-Variant assay was assessed by evaluating 500 samples representing a wide variety of CFTR variants from four separate sources. The primary source of accuracy data was a clinical accuracy study conducted using a panel of 366 samples. The majority (n=355) of samples consisted of archived, anonymized clinical gDNA specimens isolated from human blood, the remaining 11 samples were obtained from commercially available cell line specimens. Data from this study was supplemented with accuracy data from 68 cell line samples evaluated in the reproducibility study, 14 clinical samples from the extraction method evaluation analytical study, and 52 synthetic plasmid samples. The synthetic plasmids {4}------------------------------------------------ were designed to include the genomic context of the rare variants, and contained anywhere from 1 to 9 variants within the same construct. They were linearized, diluted to genomic DNA equivalent copy numbers, and blended with human genomic DNA samples of wild type genotype at equivalent copy numbers to mimic a heterozygous sample. The genotyping results for 137 SNA/small InDel sites, including the PolyTG/Poly T region were compared to Sanger bi-directional sequence analysis. A PCR based assay was used as the reference method for the two large deletions in the panel. Each duplex PCR assay made use of 2 primer sets to discriminate between wild type, heterozygous, and homozygous genotypes. One of the primer sets was designed to flank the deletion breakpoints, whereas the other amplified a region internal to the deletion. The two products were detected by size separation on an agarose gel. The assays were validated using a panel of 28 samples in all (22 samples for each deletion) consisting of cell line and blood derived genomic DNA samples, and synthetic plasmids which encompassed the WT, HET and HOM genotypes for each large deletion. The PCR assays were confirmed to have 100% specificity and reproducibility for all samples tested, by evaluation of PCR products on an agarose gel. The accuracy of the PCR assays was confirmed using Sanger Sequencing and found to be 100% for all sample Accuracy was determined for each genotype through three statistical measures. Positive Agreement (PA) was calculated for each variant genotype by dividing the number of samples with agreeing variant calls by the total number of samples with that variant as identified by the reference methods. Negative Agreement (NA) was calculated across all wild type (WT) positions by dividing the number of concordant WT positions by the total number of WT positions as defined by the reference methods. Overall Agreement (OA) was calculated across all reported positions by dividing the number of concordant WT and variant positions by the total number of reported positions as determined by the reference methods. The MiSegDx Cystic Fibrosis 139-Variant Assay had a genotype-level PA of 100%. The NA for all wild types was >99.99% and the OA for all reported positions was >99.99%. All test results were based on initial testing. {5}------------------------------------------------ able 1: Overall Accuracy for the MiSeqDx Cystic Fibrosis 139-Variant Assa | Mutation (Common Name) | Total calls per mutation | Positive calls (Variants) | | | Negative calls (Wild Type) | # Miscalls | # No Calls | Positive Agreement (%) | Negative Agreement (%) | Overall Agreement (%) | |---------------------------|--------------------------------|---------------------------|---------------------------------------------------|----------------------|-------------------------------|------------|---------------------|------------------------------|------------------------------|-----------------------------| | | | Clinical Samples | Cell Line Samples | Synthetic Samples | | | | | | | | CFTR dele2, 3 | 500 | 4 | 1 | 0 | 495 | 0 | 0 | 100 | 100 | 100 | | E60X | 500 | 6 | 1 | 0 | 493 | 0 | 0 | 100 | 100 | 100 | | P67L | 500 | 1 | 0 | 1 | 498 | 0 | 0 | 100 | 100 | 100 | | R75X | 500 | 3 | 1 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | G85E | 500 | 6 | 2 | 0 | 492 | 0 | 0 | 100 | 100 | 100 | | 394delTT | 500 | 3 | 1 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | 406-1G>A | 500 | 4 | 0 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | E92X | 500 | 0 | 1 | 1 | 498 | 0 | 0 | 100 | 100 | 100 | | D110H | 500 | 1 | 0 | 1 | 498 | 0 | 0 | 100 | 100 | 100 | | R117C | 500 | 4 | 0 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | R117H | 500 | 17 | 2 | 0 | 481 | 0 | 0 | 100 | 100 | 100 | | Y122X | 500 | 0 | 1 | 0 | 499 | 0 | 0 | 100 | 100 | 100 | | 621+1G>T | 500 | 7 | 5 | 0 | 488 | 0 | 0 | 100 | 100 | 100 | | 663delT | 500 | 1 | 1 | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | G178R | 500 | 1 | 1 | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | 711+1G>T | 500 | 3 | 1 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | P205S | 500 | 1 | 0 | 1 | 498 | 0* | 0 | 100 | 100 | 100 | | L206W | 500 | 8 | 1 | 0 | 491 | 0 | 0 | 100 | 100 | 100 | | 1078delT | 500 | 1 | 1 | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | G330X | 500 | 1 | 1 | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | R334W | 500 | 6 | 1 | 0 | 493 | 0 | 0 | 100 | 100 | 100 | | | otal call | Positiv | calls (Variants | | Negative calls (Wild Type) | Miscal | ମାସେ ଚନ୍ଦ୍ର ମଧ୍ୟ # | Positive | Negative | Overal | | Mutation ommon Nam | per nutation | ລາວປັນຈ ເຖິງແມງດ | Cell Line Sample: | Synthetic Samples | | | | greement | Agreemen 196 | Agreemer 1961 | | 1336K | 500 | | T | 0 | ਪਰੇਰੇ | 0 | 0 | 100 | 100 | 100 | | 154insT | 500 | 0 | I | 0 | ਪਰੇਰੇ | 0 | 0 | 100 | 100 | 100 | | R347H | ર૦૮ | 9 | โ | t | 492 | 0 | 0 | 100 | 100 | 100 | | R347F | 500 | t | ਟ | 0 | 495 | 0 | 0 | IDT | 100 | 100 | | R352C | 500 | S | 0 | 0 | 495 ﺴﻨ | 0 | 0 | 100 | 100 | 100 | | A455E | 500 | ਸ | て | 0 | ਪਰੇਵ | 0 | 0 | 100 | 100 | 100 | | 466X (C->G | 500 | โ | 0 | T | 498 r | 0 | i T T 0 | 100 | 100 | 100 | | 548del | ર૦૮ | โ | 0 | T | 498 | 0 | 0 | 100 | 100 | 00T | | Q493) | ર૦૮ | t | ਟ | 0 | 494 | | 0 | 100 | 100 | 100 | | 507de | ક્વવ | 7 | ਟ | 0 | 4 ਰੋਪ | 0 : 0 | 0 | 100 | 100 | 100 | | 508de | 500 | 78 | රිට | 0 | 387 | 0 | 0 | 100 | 100 | 100 | | 677delT | 500 | L | 0 | 0 | ਧਰੇਰੇ | 0 | 0 | 100 | 100 | 100 | | V520F | 500 | て | 0 | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | 717-1G> | 500 | b | I | 0 | 495 | 0 | 0 | 100 | 100 | 100 | | G542) | 200 | ਟ ਦ | € | 0 | 485 | 0 | 0 | 100 | 100 | 100 | | 549N | 500 | ਟ | ਟ | T | ਕਰੇ ਟ | 0 | 0 | 100 | 100 | 100 | | S549R 1647T>G | 500 | ಕ | T | 0 | ૫૦૦ | 0 | 0 | 100 | 100 | 100 | | GSS10 | నంద | 8 | દ | 0 | 489 | 0 | 0 | 100 | 100 | 100 | | R553X | ડવ્યુ | 8 | ਟ | 0 | 490 | 0 | 0 | 100 | 100 | 100 | | 4559. | 500 | 7 | 0 | T | વવાયુ | 0 | 0 | 100 | 100 | 100 | | R5601 | 500 | 9 | T | 0 | ਖਰੇਤ | 0 | 0 | 100 | 100 | 100 | | 812-1 G-> | ર૦ત | 0 | ਟ | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | Mutation (Common Name) | Total calls per mutation | Positive calls (Variants) | | Synthetic Samples | Negative calls (Wild Type) | # Miscalls | # No Calls | Positive Agreement (%) | Negative Agreement (%) | Overall Agreement (%) | | | | Clinical Samples | Cell Line Samples | | | | | | | | | 1898+1G>A | 500 | 2 | 1 | 0 | 497 | 0 | 0 | 100 | 100 | 100 | | 2143delT | 500 | 2 | 1 | 0 | 497 | 0 | 0 | 100 | 100 | 100 | | 2183AA>G | 500 | 3 | 1 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | 2184insA | 500 | 3 | 0 | 1 | 496 | 0 | 0 | 100 | 100 | 100 | | 2184delA | 500 | 1 | 1 | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | R709X | 500 | 1 | 0 | 2 | 497 | 0 | 0 | 100 | 100 | 100 | | K710X | 500 | 3 | 0 | 0 | 497 | 0 | 0 | 100 | 100 | 100 | | 2307insA | 500 | 3 | 0 | 2 | 495 | 0 | 0 | 100 | 100 | 100 | | R764X | 500 | 1 | 0 | 2 | 497 | 0 | 0 | 100 | 100 | 100 | | W846X | 500 | 0 | 1 | 0 | 499 | 0 | 0 | 100 | 100 | 100 | | 2789+5G>A | 500 | 9 | 1 | 0 | 490 | 0 | 0 | 100 | 100 | 100 | | Q890X | 500 | 1 | 0 | 0 | 499 | 0 | 0 | 100 | 100 | 100 | | 3120G>A | 500 | 1 | 0 | 0 | 499 | 0 | 0 | 100 | 100 | 100 | | 3120+1G>A | 500 | 7 | 1 | 0 | 492 | 0 | 0 | 100 | 100 | 100 | | 3272-26A>G | 500 | 0 | 1 | 0 | 499 | 0 | 0 | 100 | 100 | 100 | | R1066C | 500 | 6 | 0 | 0 | 494 | 0 | 0 | 100 | 100 | 100 | | R1066H | 500 | 1 | 0 | 1 | 498 | 0 | 0 | 100 | 100 | 100 | | W1089X | 500 | 4 | 0 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | Y1092X (C>A) | 500 | 3 | 1 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | M1101K | 500 | 2 | 2 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | R1158X | 500 | 7 | 1 | 0 | 492 | 0 | 0 | 100 | 100 | 100 | | R1162X | 500 | 5 | 1 | 0 | 494 | 0 | 0 | 100 | 100 | 100 | | 3659delC | 500 | 4 | 1 | 0 | 495 | 0 | 0 | 100 | 100 | 100 | | Mutation (Common Name) | Total calls per mutation | Positive calls (Variants) | | | Negative calls (Wild Type) | # Miscalls | # No Calls | Positive Agreement (%) | Negative Agreement (%) | Overall Agreement (%) | | | | Clinical Samples | Cell Line Samples | Synthetic Samples | | | | | | | | S1196X | 500 | 1 | 0 | 0 | 499 | 0 | 0 | 100 | 100 | 100 | | 3791delC | 500 | 2 | 0 | 0 | 498 | 0 | 0 | 100 | 100 | 100 | | 3849+10kbC>T | 500 | 11 | 2 | 0 | 487 | 0 | 0 | 100 | 100 | 100 | | 3876delA | 500 | 6 | 1 | 0 | 493 | 0 | 0 | 100 | 100 | 100 | | S1251N | 500 | 1 | 0 | 1 | 498 | 0 | 0 | 100 | 100 | 100 | | 3905insT | 500 | 3 | 1 | 0 | 496 | 0 | 0 | 100 | 100 | 100 | | W1282X | 500 | 9 | 1 | 0 | 490 | 0 | 0 | 100 | 100 | 100 | | N1303K | 500 | 9 | 1 | 0 | 490 | 0 | 0 | 100 | 100 | 100 | | CFTRdele22,23 | 500 | 1 | 0 | 1 | 498 | 1" | 0 | 100 | 99.8 | 99.8 | | M1V | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | Q39X | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 405+1 G->A | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | E92K | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | Q98X | 500 | 0 | 0 | 2 | 498 | 0 | 0 | 100 | 100 | 100 | | 457TAT->G | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 574delA | 500 | 0 | 0 | 2 | 498 | 0 | 0 | 100 | 100 | 100 | | 711+3A>G | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 711+5 G->A | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 712-1 G->T | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | H199Y | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | Q220X | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 852del22 | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | Mutation (Common Name) | Total calls per mutation | Clinical Samples | Positive calls (Variants) Cell Line Samples | Synthetic Samples | Negative calls (Wild Type) | # Miscalls | # No Calls | Positive Agreement (%) | Negative Agreement (%) | Overall Agreement (%) | | T3381 | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | S341P | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 1213delT | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 1248+1G>A | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 1259insA | 500 | 0 | 0 | 2 | 498 | 0 | 0 | 100 | 100 | 100 | | W401X (c.1202G>A) | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | W401X (c.1203G>A) | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 1341+1G->A | 500 | 0 | 0 | 2 | 498 | 0 | 0 | 100 | 100 | 100 | | 1461ins4 | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 1525-1G->A | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | S466X (C->A) | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | L467P | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | S489X | 500 | 0 | 0 | 2 | 498 | 0 | 0 | 100 | 100 | 100 | | S492F | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | Q525X | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 1717-8G->A | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | S549R (c.1645A>C) | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | Q552X | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | R560K | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | 1811+1.6kb A->G | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | | E585X | 500 | 0 | 0 | 1 | 499 | 0 | 0 | 100 | 100 | 100 | 27 . Confidential . {6}------------------------------------------------ iSeqDx Cystic Fibrosis System 28 Confidential {7}------------------------------------------------ MiSeqDx Cystic Fibrosis System 29 {8}------------------------------------------------ MiSeqDx Cystic Fibrosis System Confidential 30 {9}------------------------------------------------ MiSeqDx Cystic Fibrosis System 31 {10}------------------------------------------------ MiSeqDx Cystic Fibrosis System | Overal | greemen ಳಿಕ | 100 | 100 | 100 | 100 | 00T | 001 00T | | 100 | 00T | 100 | 00T | 100 | 100 | 100 | 00T | 00T | 100 | 100 | 100 | 100 | 100 | |-----------------------------|--------------------------|---------|-------|---------|---------|-------|-----------|-------|-------|-----------|-------|--------|---------|-------|----------|------------|--------|------------|--------|--------|--------------------------------------------------------------------------------------------------|--------------| | Negative | Agreemer (%) | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | 100 | от | 100 | 100 | 00T | 100 | 100 | 100 | 100 | 100 | 100 | | Positive | greemer (%) | 100 | 100 | 100 | 100 | 100 | 00 T | 100 | 100 | 100 | 100 | 100 | 100 | 00T | 100 | 00T | 00 I | 100 | 100 | 100 | 100 | 100 | | siles ON # | | 0…

ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY

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ILLUMINA MISEQDX CYSTIC FIBROSIS 139-VARIANT ASSAY

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