The INFINITI System

From Specimen to Result

Yasemin DALLI
Director,International B.

Design Goals of Platform

Load N Go Automation
Integrate DNA & Protein analysis
into one instrument
Create a cost efficient platform
Minimal lab space requirements
Wide spectrum of Applications

INFINITI Applications Portfolio (50)

Womens
Health
HPV
- Genotyping
- QUAD
- HR QUAD
- HR HEX
STD
- STD-6 QUAD
- Leuko QUAD
- Urogen QUAD
- CT-NG QUAD
Vaginitis
- Bacterial Vaginosis
- Candida Vaginitis

Oncology
Colorectal
- KRAS-BRAF
- KRAS
- 5-FU
- UGT1A1
- NAT-2
Melanoma/Thyroid
- BRAF
- BRAF XP
Breast
- CHEK-2
- BCP-AJ
Lung (NSCLC)
- EGFR

Pgx
Coumadin
- Warfarin
- 2C9-VKORC1
Clopidogrel
- CYP2C19
- Single format
- Quad format
- 2C19 Plus
Tamoxifen
- 2D6T
- TAMX3
Codeine
- CODX2
Pain Management
- 2D6I
- 3A4
- 3A5
Risk Assessment
- ApoE
- MDR1

Menu Exp
Infectious Diseases
- RVP Plus
- MDR-TB
- NTM
- Flu A-sH1N1
Genetic Disorders
- CFTR 31
- CFTR 15
- Ashkenazi Jewish Panel
- FMF Panel
Coagulation Disorders
- F II
- F V Leiden
- MTHFR
- F II-V (IVD)
- F II-V-MTHFR
- F II Plus
- F II Plus-V
- F II Plus-V-MTHFR
- F V Genotyping
3

INFINITI Womens Health Portfolio

Womens Health
HPV
- Genotyping
- QUAD
- HR QUAD
- HR HEX
STD
- STD-6 QUAD
- Leuko QUAD
- Urogen QUAD
- CT-NG QUAD
Vaginitis
- Bacterial Vaginosis
- Candida Vaginitis

AutoGenomics HPV Assays

HPV-Genotype

HPV-HR QUAD

Simultaneous multiplexed detection of

26 HPV types with a single sample

Simultaneous detection of 14
high-risk types individually

1 sample in one chip

4 samples in one chip

HPV-QUAD

HPV-HR HEX

Simultaneous detection of 5
individual high risk types,
8 high risk in pairs, and
2 low risk in pairs

Simultaneous detection of 14
high-risk types individually

4 samples in one chip

6 samples in one chip

Genotyping Matters
Genotyping offers superior Sensitivity and
Specificity over that of conventional screening.
Type 16 & 18 behave differently than other HR types
Discrimination between persistent and new
infection requires knowledge of genotype
Following persistent type specific infections is a
central part of management

AutoGenomics

Complete Genotyping at Screening Costs!

INFINITI STD-6 QUAD

Detects:

CT-NG QUAD

Chlamydia trachomatis
Neisseria gonorrhea
Trichomonas vaginalis
Mycoplasma genitalium
Mycoplasma hominis
Ureaplasma urealyticum

Leuko QUAD

Urogen QUAD

Sample:

Endocervical or urethral swabs

Liquid
cytology
DNA Lysis

Sample Preparation:

Single Tube Multiplex PCR

Results

16 samples in 4 hrs.
24 samples in 51/2 hrs.

INFINITI BV QUAD
Detects:

B. fragilis
M. mulieris
A. vaginae
G. vaginalis
M. curtisii
P. bivia

Sample:

Endocervical or urethral swabs

Urine
ThinPrep
SurePath

Sample Preparation:

Single Tube Multiplex PCR

Results

16 samples in 4 hrs.
24 samples in 51/2 hrs.

INFINITI CV QUAD
Detects:

C. albicans
C. krusei
C. tropicalis
C. glabrata
C. parapsilosis

Sample:

Endocervical or urethral swabs

Urine
ThinPrep
SurePath

Sample Preparation:

Single Tube Multiplex PCR

Results

16 samples in 4 hrs.
24 samples in 51/2 hrs.

Strengths of INFINITI Womens Health

Not only do INFINITI Womens Health assays offer better
performance

All INFINITI Womens Health assays are automated with the

INFINITI Analyzer, processing 24 samples in 5.5 hrs.

All INFINITI Womens Health assays are compatible with

multiple sample types such as ThinPrep (1 mL) and SurePath
(0.5 mL) samples.

All INFINITI Womens Health assays utilize Simplified Sample

processing (HPV/STD Sample Processing Kit)
Sample lysis eliminates DNA extraction (lower costs)
Maintains integrity of DNA
Stored sample can be re-tested (if required)

INFINITI Oncology Portfolio

Oncology
Colorectal
- KRAS-BRAF
- KRAS
- 5-FU
- UGT1A1
- NAT-2
Melanoma/Thyroid
- BRAF
- BRAF XP
Breast
- CHEK-2
- BCP-AJ
Lung (NSCLC)
- EGFR

KRAS-BRAF Mutations
Mutations in the KRAS & BRAF oncogenes are frequently found in human
cancer.
Approximately 45% of metastatic colorectal cancer patients (KRAS)
Approximately 12% of metastatic colorectal cancer patients (BRAF)

Common in the following cancers:

Colorectal (primarily)
Pancreatic
Lung
Gall Bladder
Bile Duct
Thyroid

Identification of KRAS & BRAF mutations suggests that anti-EGFR therapies

will not work in most patients. (anti-EGFR drugs Cetuximab/Erbitux,
Panitumumab/Vectibix, Gefitinib/Iressa, Erlotinib/Tarceva).

INFINITI KRAS-BRAF
The INFINITI KRAS-BRAF Assay is designed to identify a total of 23 mutations in KRAS
Codons 12, 13, 61 and BRAF Codon 600.

Test Format:

Codon 12 (7 mutations) G12A, G12C, G12D, G12F, G12R, G12S, G12V

Codon 13 (6 mutations): G13A, G13C, G13D, G13R, G13S, G13V

Codon 61 (6 mutations): Q61E, Q61H, Q61K, Q61L, Q61P, Q61R

Codon 600 (4 mutations): V600A, V600D, V600E, V600KRM

Polymorphisms in these two genes may determine the grade of toxicity and effectiveness
of various anti-EGFR drugs.

Specimen Types
The following sample types are compatible with the
INFINITI KRAS-BRAF:
1.
2.
3.
4.
5.

DNA extracted FFPE Tissue tumor biopsies

Fresh Tissue
Frozen Tissue
Tissue Slides
Cell Lines

INFINITI BRAF XP
The INFINITI BRAF XP Assay is designed to identify a total of 17 mutations in BRAF
Codons 600, 464, 466, 469, 597, 601.
Test Format:
Codon 600 (7 mutations):

V600A, V600D, V600E, V600G, V600K, V600M, V600R

Codon 464 (2 mutations):

G464E, G464V

Codon 466 (3 mutations):

G466A, G466E, G466V

Codon 469 (2 mutations):

G469A, G469E

Codon 597 (2 mutations):

L597R, L597V

Codon 601 (1 mutations):

K601E

5- Fluorouracil

More than 2 million patients with breast cancer, colon cancer, skin cancer or head
and neck cancer are treated with 5-Fluorouracil (5-FU) each year.
Almost standard of care for colorectal cancer patients

Even with the arrival of new biologic agents against colon cancer, 5-FU remains a
mainstay of treatment but carries a high risk of adverse effects.

Approximately 30% of patients will experience dose-limiting toxicity that can be

severe to life-threatening.

Genetic variations in 3 different genes have been shown to impact the effectiveness
of 5-FU dosing.

INFINITI 5-FU
The INFINITI 5-FU Assay is designed to identify a total of 8 mutations in DPYD,
TYMS, and MTHFR genes in patients undergoing chemotherapy with 5-FU.

Test Format:

DPYD (5 Mutations):

85T>C,
IVS14+1 G>A
1590T>C
1679T>G
2846A>T

TYMS (1 Mutation):

Ins/del TTAAAG in the 3untranslated region.

MTHFR (2 Mutations):

677C>T, 1298A>C

Polymorphisms in these three genes may determine the grade of toxicity and
effectiveness of 5-FU.

Benefits of INFINITI 5-FU Test

1.
2.
3.
4.
5.

INFINITI 5-FU can help predict a patients risk of toxicity

Patient management can be enhanced by avoiding adverse
events
Allows for considerations of alternate chemotherapies for
patients at risk
Implement dose reduction and enhanced monitoring strategies
where appropriate
Personalized treatment by identifying high risk patients before
beginning their chemotherapy

UGT1A1

UGT 1A1 is responsible for conjugating SN 38, the active

metabolite of irinotecan HCl.
Studies have shown that testing an individual for UGT 1A1*28
polymorphism will allow the physician to determine the
specific dosage of irinotecan per the individual
UGT 1A1*37 polymorphism also results in high levels of active
metabolite , thus *37 also presents a risk for neutropenia.
UGT 1A1*36 polymorphism enhances the metabolism , thus
*36 tolerate a higher irinotecan dosage

INFINITI UGT1A1 Test

Only comprehensive panel in market that detects:
*1, *28, *36, *37

Automated procedure enhances workflow

efficiency.

Sample: Whole Blood with EDTA

NAT-2 and INFINITI NAT-2 Test

NAT-2 is a highly polymorphic enzyme that plays a key role in drug detoxification
and elimination of many drugs.
NAT-2 allele identification reduces the risk of hepatotoxicity.
NAT-2 has been linked to Colorectal, Bladder, Breast, Prostate & Lung Cancers

NAT-2 Panel
Variants detected (7):

G191A, C282T, T341C, C481T, G590A, A803G, G857A

CHEK-2 and INFINITI CHEK-2

CHEK-2 is classified as a tumor supressor gene.
A mutation (1100 delC) in this gene has been linked to breast cancer. If it is present, it
may account for 1% of all breast cancer in women and 9% of breast cancer in men.
Having the mutated genotype increases a womans likelihood of breast cancer two-fold,
and increases a mans chance of breast cancer 10-fold.

CHEK-2 Panel
Variants detected:

1100 delC, I157T

EGFR
Lung cancer is leading cause of mortality in the world.
Non-Small Cell Lung Carcinomas (NSCLC) account for 85% of
lung cancer cases, and chemotherapy is only marginally
effective as a treatment.
Epidermal Growth Factor Receptors (EGFR) are present on
cells of epithelial origin and is often over-expressed in cases
of NSCLC.

It has been observed that some patients with NSCLC are

more responsive to therapies that target the EGFR.

INFINITI EGFR
The INFINITI EGFR assay detects mutations in exons 18, 19, 20 and 21 that confer
sensitivity to drugs such as Gefitinib and Erlotinib.
Exon 18: (10)

2125-MA, 2125-MC, 2126-MC, 2126-MG, 2126-MT,

2155-MA, 2155-MC, 2155-MT, 2156-MT, 2159-MT

Exon 19: (17)

2235-MA, 2236-MA, 2236-MC, 2236-MT, 2237-MG, 2237-MT,

2238-MC, 2238-MG, 2239-MC, 2239-MG, 2240-MC, 2241-MC,
2245-MT, 2252-MA, 2252-MG, 2252-MT, 2253-MC

Exon 20: (16)

2291-MG, 2291-MT, 2303-MT, 2305-MA, 2305-MT, 2309-MCl

2310-MA, 2315-MG, 2312-MG, 2318-MG, 2318-MT, 2320-MA
2326-MT, 2335-MT, 2369-MT, 2375-MC

Exon 21: (6)

2477-MG, 2504-MT, 2572-MA, 2573-MG, 2582-MA, 2582-MG

INFINITI Pharmacogenetics Portfolio

PGx
Coumadin
- Warfarin
- 2C9-VKORC1
Clopidogrel
- CYP2C19
- 2C19 Plus
Tamoxifen
- 2D6T
- TAMX3
Codeine
- CODX2
Pain Management
- 2D6I
- 3A4
- 3A5
Risk Assessment
- ApoE
- MDR1

Drug Treatment Paradigm

Trial & Error

Genotype Based Treatment

Genetic Test

Drug A
Side effects

Metabolic
Character

Drug B
Ineffective

Drug C

Drug D
TARGETED

Significance of Pharmacogenomics
A patients inherited genetic makeup and their
response to pharmaceutical drugs are seen with
regards to their metabolism.

Ultra-rapid

Normal

Poor

Metabolizer

Metabolizer

Metabolizer

Under-dosed:

Expected

Lack of Efficacy

Response

Over-dosed:
Adverse Drug
Reactions

Cytochrome P450 Enzymes

The super-family of cytochrome P450 enzymes has a

critical role in the metabolism of drugs.

CYP450 Testing Applications

Psychiatry Antidepressants, Antipsychotics

Anticoagulants Plavix, Warfarin, Prasrugel
Oncology Tamoxifen, Chemotherapy

Pain management Codeine, Vicodin

2C19 and Plavix

Plavix also known as Clopidogrel
Indicated for Acute Coronary Heart Disease (especially in Stent
procedures), Recent Myocardial Infarction, Recent Stroke, PAD

2nd highest selling drug in the world for the past 4 years
Sales of $6.35 Billion in 2010 (2nd only to Lipitor 12.9B)
Current Estimated Growth = 16%
~$4/pill, ~$120/month, ~$1500/year

> 90 million patients worldwide

2C19 and Plavix

* Plavix, if dosed properly will avoid clotting from occurring.
Stents Clotting (Stent Thrombosis) within 90 days 12 months (ineffectiveness to eliminate
clots especially after stents is big issue for cardiologists)
* Often times failure in Plavix therapy leads to Death or Acute Stent Thrombosis

Respiratory Tract Infections 8.7%

Chest Pain = 8.3%
Flu Symptoms 7.5%
Hypertension = 4.7%
Diarrhea = 4.5%
Major Bleeding Events 3.7%
Depression 3.6%
Gastrointestinal Bleeding - 2.0%
Intracranial Hemorrhage = 0.4%
Fatal Bleeding = 0.2%

INFINITI 2C19
The 2C19 test for Plavix should be considered for any patient taking or
considering Plavix (especially those with stents or considering stents).

INFINITI CYP2C19:

*2, *3, *17

First complete 2C19 FDA Cleared panel.

INFINITI CYP 450 2C19+: *2, *3, *4, *6, *7, *8, *9, *10, *17

Expanded Panel of 2C19 mutations.

2C19 Multiple Uses

Not only does CYP450 2C19 play a significant role in relation to
Plavix, but it also plays a large role in metabolizing other groups
of drugs (15% of all drugs):
1.

Antidepressants (Prozac)

2.

Antiepileptics (Valium)

3.

Proton Pump Inhibitors (PPIs)

2C9 and Warfarin

-

Most frequently prescribed oral

anticoagulant

Second leading cause of drugrelated emergency room visits

Most warfarin-related adverse

effects (50%) occur during the first
30 days of therapy

1-5% of new patients will have

minor or major bleeding events.

Dosage outside range (2-3), results

in increased risk of clotting or
bleeding

INFINITI Warfarin and XP-2C9-VKORC1

2C9 Variants:

*2, *3, *4, *5, *6, *11

VKORC1 Variants:

3673, 6009, 6484, 6853

7566, 8773, 9041

Sample:

Whole Blood
Buccal Cells

Sample Preparation:

Single Multiplex 1 PCR For All 2C9

and VKORC1 Variants

2D6
Metabolizes more than 25% of all approved drugs
(mainly associated with Antidepressants & Pain
Management medications).
Ultrarapid
Metabolizer

Normal
Metabolizer

Underdosed Lack of
Efficacy

Expected
Response

Poor
Metabolizer
Overdosed
Serious ADRs=
seizure, stroke,
cardiac arrest, death

INFINITI 2D6 Tamoxifen

Tamoxifen is indicated for the treatment of breast cancer. 3.5 million
prescriptions per year.
2D6 significantly impacts the metabolism of Tamoxifen.
7-10% of women with breast cancer may not receive the full medical
benefit from taking Tamoxifen due to their unique genetic makeup.

INFINITI 2D6T : * 2,*3,*4,*5,*6,*7, *8, *9,*14, *29,*41

INFINITI 2D6 I
INFINITI CYP2D6i Assay
Reduced Function Alleles:
*9, *10, *17, *29, *41
Non-Functional Alleles:
*3, *4, *5, *6, *7, *8, *12, *14
Notable Mention:
*10, *12:
Affects metabolism of
neuroactive substances
*10, *14:

Top variants found in Asians

3A4/3A5
CYP450 3A4/3A5 is the most abundant CYP450 isoenzyme in
humans
Responsible for the metabolism of the widest range of
drugs/substances (55%) .

5-10% of Caucasians have an inactive enzyme (poor metabolizers)

5-8% of African Americans have an inactive enzyme (poor
metabolizers)

INFINITI 3A4/3A5
Involved in the metabolism and clearance of:
Antidepressants
Statins
HIV protease Inhibitors
Anti-thrombolytics
Calcium Channel Blockers
INFINITI 3A4 : *1B, *2, *3, *12, *17
INFINITI 3A5 : *1D, *2, *3A, *3B, *6, *7, *8, *9

MDR1 and INFINITI MDR1

MDR1 protein is involved in:
Cancer drug resistance
Transport of hydrophobic drugs in the
bowel, kidney, liver, and the blood-brain barrier
Drugs that interact with the MDR1 protein may be useful for:
the reversal of cancer drug resistance
increasing the absorption or the brain entry of various
pharmacological agents

INFINITI MDR1: (-)1A>G, 61A>G, 1199G>A, 1236C>T, 2677G>A, 3435C>T

INFINITI Infectious Diseases Portfolio

Infectious Diseases
- RVP Plus
- MDR-TB
- NTM
- Flu A-sH1N1

INFINITI RVP Plus

Detects:

Influenza A/Swine H1N1 and B

Human Parainfluenza Virus (HPIV) 1, 2, 3, 4
Rhinovirus A and B
Enterovirus A, B, C, D
Coronavirus HKU1, OC43, NL63, 229E
Human Metapneumovirus (HMPV) A, B
Human Respiratory Syncytial (HRSV) A and B
Adenovirus A, B, C, E

Sample:

Purified RNA

INFINITI RVP Plus Benefits

Walk-away system Load and go!
Reduced time to results from 1 week to overnight

Only comprehensive testing option in the market

o Simultaneous detection of 25 respiratory viruses
o Differentiates between common Flu A and Flu A sH1N1

Amplification-based assay provide high sensitivity

Excellent correlation to gold standard

TB and TB Facts
TB causes about 1.6 million deaths worldwide each year
In humans, TB can also be caused by:
-M. tuberculosis
-M. bovis
-M. africanum
-M. microti
-M. canettii
First-line TB drugs include:

Rifampin (RIF)
Isoniazid (INH)
Pyrazinamide (PZA)
Ethambutol
Streptomycin

Multidrug Resistant TB
Multidrug resistant TB: resistance to at least two first-line drugs
An estimated 50 million persons worldwide may be infected with
drug-resistant strains of TB, with 300,000 new cases each year*
Seventy-nine percent of multidrug resistant cases now show
resistance to three or more drugs
Extreme drug resistance (XDR-TB): resistance to three or more of
the six classes of second-line
drugs

INFINITI MDR-TB

Detects:

Tuberculous complex
Resistant strains:
Wild Types
Isoniazid Resistant
Pyrazinamide Resistant
Rifampin Resistant

Sample:

Decontaminated Cell Lysate

Sample Preparation:

Single Tube Multiplex PCR

INFINITI MDR-TB

Simultaneous detection of MTBC & drug susceptibility to

Rifampin, Isoniazid, Pyrazinamide

Reduced time to result from 6 weeks to 6 hours

Simplified sample processing (bacterial lysis)

- No need for DNA extraction

Amplification-based assay provides high sensitivity

- As low as 100 copies

Unparalleled specificity

Excellent correlation to gold standard

NTM
Nontuberculous mycobacteria (NTM):
All mycobacteria other than:
Mycobacterium tuberculosis complex (MTB)
Mycobacterium leprae

More than 125 species of NTM have been identified

Certain NTM species are now recognized as true
pathogens and important causes of human infection.

INFINITI NTM
Detects:

M. avium complex
M. kanasii
M. chelonae
M. abscessus / M. mucogenicum
M. marinum/M. ulcerans
M. haemophilum
M. xenopi
M. gordonae
M. scrofulaceum
M. fortuitum
M. smegmatis.

Sample:

Decontaminated Cell Lysate

Sample Preparation:
Method of Identification:
Method of Hybridization:

Single Tube Multiplex PCR

PCR / Detection Primer Extension
Zipcode / Anti-Zipcode

INFINITI NTM

Load-and-go automation!

Detection of mycobacteria presence and identification of 13

different species
- ALL SPECIES detected on one chip

Reduced time to 1st result from weeks to 6 hours

Simplified sample processing (bacterial lysis)

- No need for DNA extraction

Amplification-based assay provides high sensitivity

- As low as 100 copies

Excellent correlation to gold standard

INFINITI Genetic Disorders Portfolio

Genetic Disorders
- CFTR 31
- CFTR 15
- Ashkenazi Jewish
Panel
- FMF Panel
- F II (IVD)
- F V Leiden
- MTHFR
- F II-V (IVD)
- F II-V-MTHFR
- F II Plus
- F II Plus-V
- F II Plus-V-MTHFR
- F V Genotyping

Factors
The INFINITI System Assay for Factor II (Prothrombin) & Factor V Leiden is
indicated for use as an aid to diagnosis in the evaluation of patients with
suspected thrombophilia.
The Factor II (Prothrombin) variant gene is the second most common genetic
defect for inherited thrombosis.

INFINITI Factors

The increased risk of venous thrombosis in patients who are heterozygous for the FII
polymorphism is 3-fold.

The Factor V Leiden mutation is the most common variant associated with
inherited thrombosis.
MTHFR mutations have strongly been linked to cause hyperhomocysteinemia.
High levels of homocysteine (if high can be strongly correlated to risk of
cardiovascular disease)

INFINITI FII/FV/MTHFR
Factor II :

G20210A

Factor II Plus:

G20210A, G20209A

Factor V :

G1691A

MTHFR:

A1298C, C677T

FII-FV Panel :

G20210A, G1691A

FII-FV-MTHFR Panel:

G20210A, G1691A, A1298C, C677T

CFTR
-

Most common life-shortening genetic disorder

Testing Volume 15 millions tests world wide

Median age of survival: 31 years

Test is mandatory in some countries

INFINITI CFTR
CFTR31: 25 Mutations + 6 Reflex
Genetic Variants on Panel (31):

G85E
R117H
I148T
621+1G>T
711+1G>T
1078delT
R334W
R347P
A455E

Delta I507
Delta F508
1717-1G>A
G542X
G551D
R553X
R560T
W1282X

1898+1G>A
2184delA
2789+5G>A
3120+1G>A
R1162X
3659delC
3849+10kbC>T
N1303K

IVS8 5T
IVS8 7T
IVS8 9T
I506V
I507V
F508C

Ashkenazi Jewish Panel and INFINITI AJP

Ashkenazi Jewish Panel detects 31 mutations associated with the following eight
disorders that commonly occur in Ashkenazi-Jewish individuals:

Clinical Utility:

Most frequently used for individuals of

Ashkenazi Jewish ancestry and their
partners who are pregnant or
contemplating pregnancy.
Test will inform patients of their carrier
status and/or their risk of having a child
with any of these disorders.
AGI offers the fastest turnaround time in
the industry with same day results
other competitors take anywhere from
two to five weeks.

Disease

Mutations Screened

Ashkenazi
Carrier Rate

Bloom

2281del6/ins7

Canavan

Y231X, E285A, A305E,

433(-2)A>G

Familial
Dysautonomia

R696P, IVS20(+6)T>C

Fanconi Anemia

322delG, IVS4(+4)A>T

1/89

Gaucher

84G>GG, N370S IVS2(+1)G>A,

V394L, del55bp, D409H, L444P,
R496H

1/15

Mucolipidosis IV

del6.4kb, IVS3(-2)A>G

Niemann-Pick

L302P, R496L, 1bp del fsP330,

R608del

1/90

Tay-Sachs

del7.6kb, R249W, G269S,

IVS9(+1)G>A, 1278insTATC,
IVS12(+1)G>C, R247W

1/30

1/100
1/50
1/32

1/127

ApoE
Apolipoprotein E (ApoE) is a gene that contains the instructions needed to make
a protein that helps carry cholesterol in the bloodstream. It can be used for
cardiovascular risk assessment to help make treatment decisions for individuals
with cardiovascular disease
ApoE has been linked to cardiovascular disease and progression of Alzheimer's
disease (AD). Identifying genetic mutations in ApoE has been shown to assist
patients and physicians in developing strategies to reduce the risk of AD as well
as other neurodegenerative disorders.
Every person has a set of three alleles (2, 3 and 4) of the ApoE gene, all of
which have different effects on the individual. The main mutations are 388T>C
and 526C>T.


INFINITI

ApoE

The INFINITI ApoE Assay is designed to identify a total of 3

mutations in the ApoE gene.
Test Format:
388 T>C
526 C>T
Polymorphisms in this gene can discern the presences of ApoE 2,3
and 4 which in turn will allow physicians to determine the role of
these mutations in various brain-related activities.

FMF
An inherited autosomal recessive disorder found predominantly
in populations originating near the Mediterranean Sea (though it
may affect any ethnic group).
Characterized by recurrent fever, painful inflammation of
abdomen, lungs, and joints, destructive oligoarthritis and renal
failure via amyloid deposit in kidneys .
1 in 200 people in afflicted populations have the disease.

In women with FMF, 20-30% of pregnancies result in fetal loss.

INFINITI FMF
MEFV SNPs:
A774S
E148Q
F479L

I692del
K695R
M694V

M694I
M680I (G/A)
M680I (G/C)

P369S
R202Q
R761H
V726A

Sample:

Purified DNA from Blood

Sample Preparation:

Single Tube Multiplex PCR

Most clinically relevant panel of 13 variants individually genotyped, covering

multiple ethnicities.

Multiple Throughput Opportunities

AutoGenomics is marketing a series of Infiniti Systems
to meet the workflow and throughput requirement of
clinical Laboratories.

Infiniti
infiniti Plus
Infiniti 96
Infiniti Htp
Infiniti Assist
Infiniti ACE