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© 2014 Sequenom. All rights reserved. IMPROVING QUALITY OF LIFE THROUGH QUALITY OF SCIENCE Jefferies 2014 Global Healthcare Conference - NYC Bill Welch, COO Carolyn Beaver, CAO June 3, 2014

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© 2014 Sequenom. All rights reserved.

IMPROVING QUALITY OF LIFE THROUGH QUALITY OF SCIENCE

Jefferies 2014 Global Healthcare Conference - NYC

Bill Welch, COO

Carolyn Beaver, CAO

June 3, 2014

© 2014 Sequenom. All rights reserved.

Except 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

Laboratories’ 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.

Forward-looking statements

2

© 2014 Sequenom. All rights reserved. 3

QUALITY OF SCIENCE

At the core of Sequenom’s success in

genetics-based products is a single

uncompromising principle: Quality of Science

Content company: unlocking the

secrets of human genetics

Based in research, translational

research and clinical applications

© 2014 Sequenom. All rights reserved. 4

Sequenom Bioscience Completed sale of business on Friday, May 30

Transaction completed for a purchase price of $31.8 million, subject

to certain adjustments

Contingent consideration of up to an additional $4 million

Assumed certain liabilities related to Bioscience business, including

the lease of its San Diego facility

Buyer is Agena Bioscience, a portfolio company of Telegraph Hill

Partners

Transaction enables the Company to focus on the diagnostics

business exclusively

© 2014 Sequenom. All rights reserved. 5

Sequenom, Inc. Discovery, Develop and Enable

Best-in-class laboratory clinical diagnostic services with a focus on

prenatal testing and conditions.

– San Diego, CA; Grand Rapids, MI and Morrisville, NC

MaterniT21™ PLUS: pioneer, first-to-market and leader in the

noninvasive prenatal laboratory-developed test (NIPT) for pregnant

women at

increased risk for fetal aneuploidies

Among largest US laboratories utilizing next-gen sequencing for clinical

use

© 2014 Sequenom. All rights reserved. 6

Q1 2014 Highlights

Q1 2014

– Sequenom Laboratories revenue up 27%

– Approximately 50,000 tests accessioned including 39,800

MaterniT21™ PLUS samples

Cash burn increased slightly to $15.5 million for Q1 2014 due to

timing of annual royalty of $4.8 million and semi-annual debt

service payments of $3.3 million, compared to cash burn of

$13.6M in Q4 2013

Signed additional agreements, bringing the number of covered lives

to more than 118 million in the US, including two of the top five

national payors

Two additional international license agreements were signed

© 2014 Sequenom. All rights reserved. 7

Sequenom Laboratories revenue up from $46.5M to $119.6M Y/Y,

accounting for 74% of total revenue

– More than 185,000 tests accessioned including 148,500

MaterniT21™ PLUS samples

Reduced cash burn to $13.6M in Q4 2013 from $23.1M in Q3 2013

Expanded technology partnerships utilizing superior technology (IP)

and know-how with license agreements in Germany and France

Clinical permit from the NY Department of Health for MaterniT21

PLUS test. CLIA registration and CAP accreditation for new NC

laboratory

MaterniT21 PLUS Enhanced Sequencing Series introduced in

October

Highlights for 2013

© 2014 Sequenom. All rights reserved. 8

The Science of Performance Sequenom Laboratories Revenue ($M)

3 8

46

120

37

$0

$20

$40

$60

$80

$100

$120

$140

2010 2011 2012 2013 2014 Q1

Sequenom Laboratories

© 2014 Sequenom. All rights reserved. 9

TRADITIONAL PRENATAL TESTING

High-risk pregnancies traditionally

required invasive surgical procedures

High requirement for medical

management and genetic counseling

97% of invasive procedures

have normal results

Invasive testing costly and introduces

additional risk

© 2014 Sequenom. All rights reserved. 10

The key for Sequenom Laboratories

and millions of expectant mothers

A noninvasive laboratory-developed test (LDT) to identify pregnancies

at increased risk for fetal chromosomal abnormalities

© 2014 Sequenom. All rights reserved. 11

THE EVOLUTION OF THE MATERNIT21™ PLUS TEST

The journey began with trisomy 21 in Q4 2011

Included trisomy 18, 13, multiple gestations and

Y chromosome in 2012

Included sex aneuploidies in Q1 2013

Enhanced Sequencing Series was launched in

October 2013 and moves towards content available

by microarray

‒ Dr. Wapner’s paper highlighted value of

microarrays for specific high-risk pregnancies1

‒ ACOG and SMFM endorsed microarray for

high-risk pregnancies2

Premium content will continue to expand

1 New England Journal of Medicine; Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis; December 6, 2012; Volume 367 No. 23

2 ACOG Committee on Genetics Society for Maternal-Fetal Medicine; Committee Opinion Number 581; December 2013

© 2014 Sequenom. All rights reserved. 12

MaterniT21™ PLUS LDT As the market grows, so does the opportunity

US 2007 total births: ~ 4.3M1

Low risk

~3.55M

Market opportunities The % of US pregnancies that are high

risk is rapidly expanding

Low-risk pregnancies represent an

untapped, emerging market but is

currently not supported by guidelines or

being reimbursed by payors

>208M pregnancies each year2 globally

Comparable diagnostics, US High-risk market is a large addressable

market

‒ Greater than the annual newly

diagnosed breast (232,000) & prostate

(239,000) cancers combined 3,4

High risk

~750K

= 100K

pregnant

women

= 100K NIPT

ACOG/SMFM

supported pregnant

women

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

2 Singh S, Sedgh G and Hussain R, Worldwide levels, trends, and outcomes, Studies in Family Planning, 2010 , 41(4):241–250.

3 http://www.cancer.org/cancer/breastcancer/detailedguide/breast-cancer-key-statistics

4 http://seer.cancer.gov/statfacts/html/colorect.html

© 2014 Sequenom. All rights reserved. 13

MaterniT21™ PLUS LDT

Payors enforce compliance

to medical policies on

laboratory tests (do not

reimburse low risk today)

We follow guidelines

established by ACOG1 and

SMFM2 and perform the

test only on women at

increased risk for fetal

chromosomal abnormalities

We are able to demonstrate

to payors that our test

follows the guidelines

1ACOG is the American Congress of Obstetricians and Gynecologists 2SMFM is the Society for Maternal-Fetal Medicine

Indications for use

May 2014

Maternal age Ultrasound finding

Serum biochemical screening Personal or family history

Multiple reasons*

62%

8%

10%

13%

7%

© 2014 Sequenom. All rights reserved.

1.40%

0.43%

0.19%

Normal representation

of trisomy 21, 18 and 13

Positive trisomy 21

Positive trisomy 18

Positive trisomy 13

Results of testing

Updated May 2014

97.98%

Negative

14

MaterniT21™ PLUS LDT Substantially reducing the number of invasive procedures with high-impact data

© 2014 Sequenom. All rights reserved. 15

Sequenom Laboratories test portfolio Growing prenatal franchise

* Other tests (HerediT™ AJP, SMA, Fragile X) and NextView™ tests are performed by partner laboratories under agreements

-

20,000

40,000

60,000

80,000

100,000

120,000

140,000

160,000

2010 2011 2012 2013

AMD CF RHD Other T21*

© 2014 Sequenom. All rights reserved. 16

Sequenom Laboratories test portfolio MaterniT21™ PLUS test samples

International volume is growing,

and increased to 10% of

accessions in Q1 2014

We reduced the number of

Medicaid tests as we increased

focus on profitable tests

‒ 13 states now reimburse for

our tests

‒ Working with remaining

states to adopt coverage

policies and reimbursement

-

20,000

40,000

60,000

80,000

100,000

120,000

140,000

160,000

2011 2012 2013 Q1 2014

© 2014 Sequenom. All rights reserved. 17

Payor mix - US

Private 69%

Medicaid 23%

Self pay 8%

Hospital births >age 35* Signed agreement with two large

national payors

Positive technology assessments from ACOG/SMFM, BCBS, ISPD and CTAF

Favorable national coverage decisions from Anthem/Wellpoint, Aetna, UnitedHealth, Cigna

Agreements covering 118 million lives (May 1, 2014), negotiations with others ongoing

Reduced Medicaid to 14% of total volume in Q4 2013 from 25% in Q1 2013; increased to 16% in Q1 2014

* Source: NHDS 2008

© 2014 Sequenom. All rights reserved. 18

Sequenom Laboratories collections progress Diagnostics revenue is recorded primarily on a cash basis

Coding change effective

January 1, 2013 caused

significant payment challenges

which appeared in Q213

Amounts do not include

estimated accounts receivable

of $42 to $46 million as of

March 31, 2014

$M

$.0

$5.0

$10.0

$15.0

$20.0

$25.0

$30.0

$35.0

$40.0

Q1 12 Q2 12 Q3 12 Q4 12 Q1 13 Q2 13 Q3 13 Q4 13 Q1 14

Collections for services in prior periods

Collections and revenue accrued for services in the period

© 2014 Sequenom. All rights reserved. 19

MaterniT21™ PLUS LDT Market leadership

The first product to market in this category

Estimated >60%* unit share in high-risk pregnancy testing without the

benefits of our patents being recognized

>250,000 commercial samples

Unparalleled accuracy with short turn-around time (<7 days)

Industry leading content

Growing base of new and repeat physicians

Expanding international presence

Robust infrastructure, network and logistics

– > 2,000 draw sites

– Distribution agreements with hospitals, regional labs and draw

centers

* Market research, June 2013

© 2014 Sequenom. All rights reserved. 20

Financial highlights $ Millions

* Includes cash & marketable securities. Net proceeds from convertible note

offering in September 2012 increased cash balances by $124.7M. The term

loans mature May 1, 2015 and the convertible notes mature October 1, 2017.

** Q1 14 cash burn includes annual royalty payments of $4.8 million and semi-

annual debt service payments of $3.3 million.

*** Revenues adjusted to exclude Sequenom Bioscience, a discontinued

operation

Revenue and cash burn do not reflect unrecorded accounts receivable

estimated at $42 to $46 million as of March 31, 2014.

Revenues*** Available cash*

Cash burn

$135.5

$84.2

$175.9

$70.9 $55.6

$0

$50

$100

$150

$200

2010 2011 2012 2013 Q1 2014

Available Cash

$26

$44

$23

$14 $16

$

$10

$20

$30

$40

$50

Q1 13 Q2 13 Q3 13 Q4 13 Q1 14

Burn (QTR)

**

3 8

46

120

37

$0

$20

$40

$60

$80

$100

$120

$140

2010 2011 2012 2013 2014 Q1

Sequenom Laboratories

© 2014 Sequenom. All rights reserved. 21

Achieve quarterly break-even

and positive cash flow Q4 2014

Expand the NIPT menu with the

development of a low cost test

on an alternative platform by

year-end

– Facilitates international

access and potential future

entry into the low-risk market

SEQUENOM

THE NEW FRONTIERS

© 2014 Sequenom. All rights reserved. 22

TO UNLOCK THE SECRETS OF THE

HUMAN GENOME TO BENEFIT ALL

Actualizing the genetics revolution for commercial success

Innovating progressive concepts and tools for healthcare

Improving the quality of life for millions around the globe

© 2014 Sequenom. All rights reserved.

CONTACT:

PAUL V. MAIER, CFO

[email protected]

WWW.SEQUENOM.COM

©2014 Sequenom, Inc. All rights reserved. Sequenom®, MassARRAY® and SensiGene® are registered trademarks of Sequenom, Inc. MaterniT21™ PLUS, HerediT™, NextView™,

and IMPACT Dx™ 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.