Sequenom (SQNM) 8-K Improving Healthcare Through Revolutionary Genetic Analysis Solutions

From

Academic

Research

Through

Translational

Applications

To

Clinical

Diagnostics

CONFIDENTIAL

Exhibit 99.1

Improving Healthcare Through Revolutionary Genetic Analysis Solutions

Forward-Looking Statements

xcept

for

historical

information,

matters

set

forth

in

this

presentation,

including

statements

regarding Sequenom’s plans, potential, opportunities, financial or other expectations, projections,

goals, objectives, milestones, strategies, market growth, timelines, product pipeline, clinical studies,

product development, and the potential benefits of its products and products under development,

are

forward-looking

statements

within

the

meaning

of

the

“safe

harbor”

provisions

of

the

Private

Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and

uncertainties that may cause actual results to differ materially, including the risks and uncertainties

associated with Sequenom’s operating performance and financial position, the market demand for

and acceptance of Sequenom’s and Sequenom CMM’s products and services, research,

development

and

commercialization

of

new

products,

reliance

upon

the

collaborative

efforts

of

others, competition, intellectual property rights, government regulation, obtaining or maintaining

regulatory approvals, litigation, and other risks detailed in Sequenom’s SEC filings. These forward-

looking statements are based on current information that is likely to change, speak only as of the

date hereof, and Sequenom undertakes no obligation to revise or update such statements.

2 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

E

Large Potential Addressable Target Market

MaterniT21 PLUS is a Leading Prenatal, Noninvasive

Laboratory Developed Test with IP Protection

•

Clinical leader, first mover advantage, large and effective

sales force and commercial infrastructure for growth

Broad Prenatal Diagnostic Testing Services Portfolio

Genetic Analysis Segment Provides Diversified Revenue

Stream

Convertible Note Offering May Fund Sequenom to Cash Flow

Breakeven

Experienced Management Team

Investment Highlights

3 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Two operating segments:

•

Genetic Analysis

-

Sequenom, Inc.

-

Instrument, Reagents, Services for Genetic Analysis

-

San Diego, CA and Sales Offices US, EU and Asia

•

Molecular Diagnostics

-

Sequenom Center For Molecular Medicine (Sequenom CMM)

-

Clinical Diagnostic Service Laboratories

FY  2011         Total revenues up 18% Y/Y to $55.9M

1H  2012         Total revenues up 24% Y/Y to $33.2M**

1H  2012         33,000 total test samples received**

YTD  2012     

27,000 MaterniT21 PLUS samples received*

Sequenom, Inc.

*   Sample volumes as of 8/18/12

**  Partial year results are not necessarily indicative of full year or future performance

4 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Start-up Phase:

San Diego, CA, & Grand Rapids, MI

Raleigh, NC

Operational:

Genetic Analysis Business

Good penetration of target markets

•

Translational and Basic Research

•

Agricultural Genomics

•

Pharmaceutical and Biotech

Launched MassARRAY Analyzer 4

*

in 2010 with improved margins

Over 1,700 peer reviewed published articles on using Sequenom

technology

Active installed base over 330: an important source of new molecular

diagnostic opportunities

Expanding menu of research use only (RUO) panel content offering

*   The MassARRAY Analyzer 4 is for Research Use Only. Not for use in diagnostic procedures

**  Partial year results are not necessarily indicative of full year or future performance

(mm)

2009

2010

2011

1H 2012

**

Revenue

$  37.8

$  44.9

$  47.6

$  20.3

GM %

63%

67%

72%

73%

Op Income

$   6.4

$  12.8

$  15.5

$   2.9

5 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Ophthalmology Dx

Research           Development

Launch

Molecular Diagnostics Product Portfolio

RetnaGene Age-related Macular Degeneration (AMD) LDT

Laboratory-Developed Test (LDT) by Sequenom CMM

In Vitro Diagnostic (IVD) by Sequenom, Inc.

*  Sequenom CMM, a wholly owned subsidiary of Sequenom, Inc. operated a CLIA-certified, CAP accredited, molecular diagnostics

laboratory that develops and validates its laboratory-developed tests for use solely by Sequenom CMM

6 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Fetal-Maternal Dx

SensiGene Cystic Fibrosis Carrier Screening LDT

SensiGene Fetal RHD Genotyping LDT

MaterniT21 PLUS LDT

Trisomy 21 (IVD)

Sequenom CMM Testing Volume

FY 2011 vs YTD 2012

Samples Per Week of MaterniT21 PLUS

*  Partial year results are not necessarily indicative of full year or future performance

All

Laboratory-Developed

Tests

(LDTs)

–

(CF,

RHD,

AMD,

T21+)

MaterniT21

™

PLUS LDT:

7 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

FY 2011:

21,000 total samples billed

1H 2012:

33,000 total samples received*

YTD 2012:     46,000 total samples received* (as of 8/18/12)

FY 2011:

1,000 MaterniT21 PLUS samples received (launch 10/17/11)

YTD 2012:     27,000 MaterniT21 PLUS samples received*

•

•

•

•

•

Sequenom, Inc.

Status of Key Goals Established for 2012

8 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Raise additional capital to support expansion of diagnostics

business (H1)

Expand European licensing partnerships (Q3)

LifeCodexx launch

Introduction of new RUO panels for MassARRAY platform

(FY2012)

Obtain issuance of Lo random sequencing patent (FY2012)

FDA 510(k) submission for MassARRAY (Q4 2012) (mid-2013)

Status of Key Goals Established for 2012

Sequenom CMM

9 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Increase field sales force from 20 to 50+ 75+

(Q1/Q3)

Publication of MaterniT21 PLUS T18/13 clinical study results (Q1)

Complete AMD progression study (AREDS) (Q2)

Increase throughput and reduce COGS for the MaterniT21

PLUS LDT (FY2012)

Invoice a minimum of 25,000 40,000 50,000

MaterniT21

PLUS tests (FY2012)

Reimbursement agreements for MaterniT21 PLUS LDT

with two national payers (FY2012)

Complete build-out of North Carolina laboratory facility (Q4)

Key Driver for Sequenom Growth --

10 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

MaterniT21

™

PLUS LDT

Description:

A noninvasive laboratory developed test to identify pregnancies

at increased risk for fetal trisomies:

T21, T18 and T13 reported

Performance:

Detection

rate

for:

T21:

99.1%*

(210/212)

T18:

>99.9%

(59/59)

T13:

91.7%

(11/12)

No result rate 0.9%.  Validated in large scale clinical study**

Accuracy Rate for fetal sex determination:    

Market:

Pregnant women at increased risk for fetal aneuploidy

Use:

10 weeks gestation

Test Sample:

2x 10 ml blood draw in doctor’s office

Test Analyte:

Circulating cell-free DNA in a maternal blood sample

Turnaround:

Average ~7 business days (lab operates two shifts 6 days/wk)

**   Palomaki et al. Genet Med. 2011; 13(11): 913-20.

*     Results following  application of GCRM correction to sequencing data.

11 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

99.4%

Market Leadership Advantage for MaterniT21 PLUS

First to market/innovation (launch Oct 2011)

Most experienced (27,000+ tests run)

Strongest balance sheet ($98.6M cash and investments at 6/30/12)

Largest sales force (~75 field reps nationwide)

Greatest equipment capacity (>200,000 tests/year at 12 plex)

Richest content (T21/18/13/twins/Y)

Shortest turn-around time (7 business days)

Most comprehensive published clinical study (4,664 patients)

Lowest published no-call / no-result rate (0.9%)

Solid IP position (‘540 in U.S. and Europe)

Greatest market penetration (>25% MFMs)

Robust infrastructure (customer service, medical affairs, R&D)

12 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

MaterniT21

™

PLUS LDT Market Opportunities

*  National Center for Health Statistics, National Vital Statistics Reports; www.cdc.gov/nchs

Other High-Risk

~140,000

High-Risk

Age 35-49

~ 610,000

13 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Potential Available Market

U.S.

2007

Total

Births:

~

4.3M

*

Market Penetration in High Risk U.S. Market

14 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

U.S. High Risk Births:  ~750,000

Invasive

Procedures

~200,000

SQNM

Annualized

Run

Rate

~70,000

MaterniT21

™

PLUS LDT:   Precision Proven in Large,

Target Market Validation Studies

1.

Palomaki GE,

et al.,

DNA Sequencing of Maternal Plasma to Detect Down Syndrome: An International

Clinical Validation. Genet Med 2011; Nov;13(11):913-920.

2.

Palomaki G, et al., DNA Sequencing of Maternal Plasma Reliably Identifies Trisomy 18 and Trisomy 13,

as

well

as

Down

syndrome:

An

International

Collaborative

Study.Genet

Med.

2012

Mar;14(3):296-305

3.

Canick JA, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in

multiple gestations. [published online ahead of print May 14, 2012] Prenat Diagn. Dol: 10.1002/pd.3892.

15 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

WIHRI Large Validation Study

N = 4,664 Patients

T21

Genet Med

1

Nov 2011

T18, T13

Genet Med

2

Mar 2012

Multiples

Prenat Diagn

3

Online May 2012

Mosaics

In preparation

Sex

Chromosomes

In preparation

Peer-Reviewed Literature Basis for

Sequenom CMM Laboratory-Developed Tests (LDTs)

16 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

MaterniT21

™

PLUS LDT:  Ordered by Physician,

Reported to Physician

17 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

MaterniT21

™

PLUS LDT:

CLIA Quality Control & Outcome Metrics > 20,000 Patients

68%

5%

24%

19%

18 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

*  Total equals greater than 100% as certain patients have multiple indications for testing

MaterniT21

™

PLUS LDT:

CLIA Laboratory Experience: > 20,000 Patients

19 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Intellectual Property

Pending

Issued

Over 500 issued and allowed patents

More than 330 pending patent applications

Vigorous Enforcement in Progress

Patents

‘540 Lo Patent –

U.S.

‘540 Lo Patent –

Europe

Other Relevant Prenatal Patents and Applications

‘181 Patent –

Random Sequencing (MPSS) U.S.

‘181 Patent –

Random Sequencing (MPSS) Europe

20 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Comprehensive Strategic Patent Portfolio

MaterniT21

™

PLUS LDT Process:

Focus on COGS Reduction in 2012/2013

Sample Processing -

Shipping and Sample Prep Automation

Data Analysis -

Enhanced Bioinformatics

Sequencing -

Increased Throughput, Faster Run Time

Library Preparation -

Automation and Simplification

21 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

MaterniT21

™

PLUS LDT Cost of Goods Sold

Expect to reach COGS unit goal of $500-600 by Y/E 2012

* Royalty

obligation

accrued

on

revenues

recognized

*

22 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Increased sample

throughput (plexing)

Flow cell/reagent

enhancement

Sample prep/process

automation

Collection tube

shipment at ambient

temperature

Continuing overhead

absorption with

volume growth

Anticipated

Improvements*

2012 Operational Updates:

27,000 tests accessioned YTD in 2012

Growing orders by Maternal-Fetal Medicine specialists (> 25%)

and the OB/GYN community

Turn-around is now ~7 business days from initial 8-10 days

Expanded prenatal sales force, now totaling ~75 active field

sales reps and managers nationwide

Solid market adoption, run rate of ~70,000 tests annually (as of

8/18/12)

Receiving reimbursement as out-of-network laboratory from

large commercial payers

Increased test content and testing capacity

Multiple international testing service agreements in place

23 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Cash

vs.

Accrual

Accounting:

MaterniT21

™

PLUS

LDT

Test #1

Costs

booked

Test billed

Test #1

Cash

payment

received

Test #2

Costs

booked

Test billed

Test #2

Cash

payment

received

Test #3

Costs

booked

Test billed

Month

Month xx

Accrual

Accounting

Implemented

Solid Test Adoption, Unpredictable Revenue in 2012

24 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Revenues

Unit Volume

Reimbursement Environment:

MaterniT21

™

PLUS LDT

Initial emphasis with Private

Insurers, receiving payment

as out-of-network provider

First signed contract with

MultiPlan in early 2012

Additional regional contracts

in process for 2012

Covered Lives of ~26 million

(7/26/12)

Source: NHDS 2008, Other includes: Other, Other Govt. & Not stated

25 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Financial Highlights

($ Millions)

Note: Principal amount of the revolving credit facility is due May 31, 2014.  The term loans mature on May

1, 2015.

*

Includes cash & marketable securities. Net proceeds from equity offering in January of 2012

increased cash balances by $58.5M.

**

Cash burn includes the net cash used in operations of $48.7M, $42.6M , $51.3 M and $35.7M  

for 2009, 2010 and 2011, 1H12. 2011/12 cash burn total includes the use of $20M from credit facility.

Revenue

Available Cash

*

Cash Burn

**

26 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

***  Partial year results are not necessarily indicative of full year or future performance.

Large Potential Addressable Target Market

MaterniT21 PLUS is a Leading Prenatal, Non-Invasive

Laboratory Developed Test with IP Protection

•

Clinical leader, first mover advantage, large and effective

sales force and commercial infrastructure for growth

Broad Prenatal Diagnostic Testing Services Portfolio

Genetic Analysis Segment Provides Diversified Revenue

Stream

Convertible Note Offering May Fund Sequenom to Cash Flow

Breakeven

Experienced Management Team

Investment Highlights

27 |

Improving healthcare through revolutionary genetic analysis solutions

CONFIDENTIAL

Improving healthcare through revolutionary genetic analysis solutions

Contact:

Marcy Graham

Senior Director, Investor Relations

mgraham@sequenom.com

www.sequenom.com

www.scmmlab.com

CONFIDENTIAL

©2012

Sequenom,

Inc.

All

rights

reserved.

Sequenom®,

Sequenom

CMM®,

MassARRAY®,

SensiGene®

,

MaternitT21™

PLUS

and

SEQureDx

®

are

trademarks

of

Sequenom,

Inc.

All other trademarks are the property of their respective owners. The information herein is for informational purposes only and represents the current view of Sequenom, Inc. as of the

date of this presentation. Sequenom cannot guarantee the accuracy of any information provided after the date of this presentation. Sequenom makes no warranties, express, implied

or statutory, as to the information in this presentation.