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ID

Bringing next generation sequencing


to your private practice.
United States and International

PREVENTEST Sample Collection and Billing Procedure?


Identify the appropriate patient for screening and open a PREVENTEST
kit and do the following:
1. Fill out Requisition Form
2. Have patient sign Consent form
3. Perform the test utilizing the enclosed instructions
4. Insert Swabs, Requisition form and Patient consent form into the
Pre-paid FedEx envelope and schedule a pickup
As soon as we receive the requisition form and sample our billing
department will contact your patients insurance company to determine
how much the insurance company will reimburse
We will then contact your patient and let them know what their out-ofpocket costs will be (I.e. Co-pays, co-insurance or unmet medical
deductibles). We will provide Financial Assistance as well Interest free
payment plans if necessary
Results for a Negative test will be returned 7-9 working days from the
time we confirm payment arrangements. This can be slowed down if the
Insurance company requires additional documentation (which we handle)
or if we cannot get in touch with the patient
Tests that are Positive will require and extra 5-7 days in order to re-run
the test for confirmation
Test results are returned to the Health Care Provider via 3
communications: Hippa compliant email, Fax and Hard Copy

19 Spear Rd. Suite 312 Ramsey NJ 07446 (866) GENE-AMD - www.GeneIDLab.com

GeneID Insurance Coverage


We Accept All Insurance Plans (In Network and Out of Network)
We Are an In-Network Provider for Medicare (Medicare Policy is
to only pay for tests for patients that have a previous diagnosis
of cancer)
We Are an In-Network Provider with the following BC/BS Plans:
-Highmark BC/BS (PA)
-Carefirst BC/BS (MD)
-Illinois BC/BS
-Minnesota BC/BS
-West Virginia BC/BS
-Wellmark (IA and SD)
-Kansas City (BC/BS)
We Are an In-Network Provider with the following State
Medicaid Plans:
(Alabama, Alaska, Colorado, Connecticut, Georgia, Idaho,
Indiana, Illinois, Iowa, Louisiana, Minnesota, New Mexico, North
Dakota, Ohio, Oregon, South Carolina, Tennessee, Utah,
Wisconsin and Wyoming)
We Accept United Healthcare, Aetna and Cigna
We Offer Interest Free Financing for all Patients Out of Pocket
Expenses

19 Spear Rd. Suite 312 Ramsey NJ 07446 (866) GENE-AMD - www.GeneIDLab.com

P: 1 OF 4

GENEID ADVANCED MOLECULAR DIAGNOSTICS, LLC .


Seshamma T. Reddy M.D., Ph.D. Medical Director

Daniel Cohen M.D. Scientific Director

19 Spear Road Suite 312 Ramsey, NJ 07446


P 866.436.3263 F 201.962.7393
GeneIDLab.com info@geneidlab.com
Date 03.06.2014
NEXT GENERATION SEQUENCING- PREVENTEST -MOLECULAR REPORT

PATIENT
Patient Name: XXX
AMD access#: GEN-14-XX
Date of Birth: XX/XX/XXX
Gender: F

SPECIMEN INFORMATION
Specimen : Buccal swab.
Date Received: 0X/X/20XX
Initiation of Testing: 0X/XX/20XX
Completion of Testing: 0X/0X/20XX

ORDERED BY
Ordering Physicians: Dr xxxx

PREVENTEST-MOLECULAR PANEL*
* PREVENTEST MOLECULAR PANEL is a full risk sequencing of germline mutations involved in familial cancer predisposition. The panel
described as complementary information, interrogates 34 germline key-cancer predisposition genes, targeting mutational hotspots associated
with both common and rare familial cancer syndromes. All translated exons and immediately adjacent intronic regions are sequenced. Single
nucleotides polymorphisms, duplications, insertions, deletions, and variants of uncertain significance can be detected.
METHODOLOGY
TARGET GENE(S): 34 germline cancer genes predisposition
A molecular library was prepared from 40 ng of genomic DNA isolated from buccal swab sample received in our lab by the name of XXXXX .
After quantification, a pool of 10,400 primer pairs were used to amplify the coding exons of target genes. A template-positive ion sphere
particles for up to 200 base-read sequencing was constructed and loaded into a microchip for sequencing. The DNA reading was performed by
next generation- Ion Semiconductor Sequencing, based on the detection of hydrogen ions that are released during the polymerization of DNA.
Genetic data was analyzed by bioinformatics software developed by Life Technologies, Inc, and stored under Variant call format (VCF). (1)(2)
(1)Bio-IT World, Davies, K. Powering Preventative Medicine. Bio-IT World 2011.
(2)GenomeWeb DNA Electronics Licenses IP to Ion Torrent. August 2010.
RESULT- SUMMARY

MUTYH : DELETERIOUS MUTATION DETECTED (D.V.D.)


GENE
MUTYH

RESULT
POSITIVE

DESCRIPTION
DVD

Legend:
DVD: Deleterious variant detected, associated with a significantly increased cancer risk.
SVD: Suspected variant detected. Evidence indicates with a high degree of certainty that the variant is associated with significantly increased
cancer risk.
VUS: Variant of Uncertain Significance. There is insufficient evidence to determine if the variant is associated with an increased cancer risk.
PR: Polymorphism reported. Evidence indicates with a high degree of certainty that the variant is not associated with an increased cancer risk.
BP: Benign polymorphism. The change is not associated with an increased cancer risk. Because these variants are clinically benign, they are not
reported.
Advanced Molecular Diagnostics, LLC 19 Spear Road Suite 312 Ramsey, NJ 07446 P 201.825.0186 F 201.962.7393
info@geneIDlab.com CLIA # 31D2053667 NPI # 179002354

GeneIDLab.com

P: 2 OF 4

GENEID ADVANCED MOLECULAR DIAGNOSTICS, LLC .


Seshamma T. Reddy M.D., Ph.D. Medical Director

Daniel Cohen M.D. Scientific Director

19 Spear Road Suite 312 Ramsey, NJ 07446


P 866.436.3263 F 201.962.7393
GeneIDLab.com info@geneidlab.com
Date 03.06.2014
NEXT GENERATION SEQUENCING- PREVENTEST -MOLECULAR REPORT
Patient Name: XXXXXXXX

AMD access#: GEN14-XXXX

Ordering Physicians: Dr XXXXXXXXXX

*Disclaimer
Some genes displayed as "Complementary Information" have not been yet validated for clinical use. The contents of this information is for
research use only and not intent for any human therapeutic or diagnostic use.

MUTYH: POSITIVE FOR A DELETERIOUS MUTATION

GENE
APC
ATM
BARD-1
BMPR1A
BRAF
BRCA-1
BRCA-2
BRIP-1
CDH-1
CDK-4
CDKN-2A
CHEK-2
EGFR
ELAC-2
EPCAM
HRAS-1
KRAS

RESULT
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE

DESCRIPTION
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP

GENE
MLH-1
MRE-11A
MSH-2
MSH-6
MUTYH
NBN
PALB-2
PMS-2
PTCH-1
PTEN
RAD-50
RAD-51C
RAD-51D
RET
SMAD-4
STK-11
TP-53

RESULT
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
POSITIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE

DESCRIPTION
BP
BP
BP
BP
DVD
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP

Legend:
DVD: Deleterious variant detected, associated with a significantly increased cancer risk.
SVD: Suspected variant detected. Evidence indicates with a high degree of certainty that the variant is associated with significantly increased
cancer risk.
VUS: Variant of Uncertain Significance. There is insufficient evidence to determine if the variant is associated with an increased cancer risk.
PR: Polymorphism reported. Evidence indicates with a high degree of certainty that the variant is not associated with an increased cancer risk.
BP: Benign polymorphism. The change is not associated with an increased cancer risk. Because these variants are clinically benign, they are not
reported.
MUTYH- D.V.D. DESCRIPTION
FINDING
MUTYH missense, exon 13

CODON
c.1187G>A

PROTEIN
p.Gly396Asp/bi-allelic

INTERPRETATION
Deleterious

Advanced Molecular Diagnostics, LLC 19 Spear Road Suite 312 Ramsey, NJ 07446 P 201.825.0186 F 201.962.7393 GeneSiteLab.com
info@genesitelab.com CLIA # 31D2053667 NPI # 17900235

P: 3 OF 4

GENEID ADVANCED MOLECULAR DIAGNOSTICS, LLC .


Seshamma T. Reddy M.D., Ph.D. Medical Director

Daniel Cohen M.D. Scientific Director

19 Spear Road Suite 312 Ramsey, NJ 07446


P 866.436.3263 F 201.962.7393
GeneIDLab.com info@geneidlab.com
Date 03.06.2014
NEXT GENERATION SEQUENCING- PREVENTEST -MOLECULAR REPORT
Patient Name: XXXXXXXX

AMD access#: GEN14-XXXX

Ordering Physicians: Dr XXXXXXXXXX

COMMENTS & CONCLUSION


The results of this analysis is consistent with a MUTYH single nucleotide polymorphisms (SNP) or missense mutation at exon 13 of the MUTYH
gene noted as c.1187G>A (rs36053993) which results in an amino acid change from glycine to aspartic acid in the MUTYH protein position 396
noted as p.Gly396Asp or G396D. This mutation was found as bi-allelic. Prediction algorithms indicate this finding as disease causing (1-3).
Studies in high-risk families indicate an association between germline MUTYH-G396D and Colorectal Adenomatous Polyposis (Autosomal
Recessive; Multiple Colorectal Adenomas, Autosomal Recessive and/or MYH-Associated Polyposis).
MUTYH-associated polyposis (MAP), caused by biallelic mutations in MUTYH, is characterized by a greatly increased lifetime risk of colorectal
cancer (CRC) (43% to almost 100% in the absence of timely surveillance).(GeneReviews, Randall Brand, MD, Maartje Nielsen, MD, Henry
Lynch, MD, and Elena Infante, MS, CGC. October 4, 2012.)
Sequencing on thirty three other genes, included in the panel descripted above, showed variants consistent with intron and synonymous
polymorphisms and are considered benign (1-6).
1. Flicek et al. Nucleic Acids Research 2013 41 Database issue:D48-D55
doi: 10.1093/nar/gks1236
2. Helga Thorvaldsdttir, James T. Robinson, Jill P. Mesirov. Integrative Genomics Viewer (IGV): high-performance genomics data visualization
and exploration. Briefings in Bioinformatics 2012.
3. Genome Res. 2009 Jul;19(7):1316-23. doi: 10.1101/gr.080531.108. Epub 2009 Jun 4.
4. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res.
2001 Jan 1;29(1):308-11.
5. Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT (2011). LOVD v.2.0: the next generation in gene variant databases.
Hum Mutat. 2011 May;32(5):557-63.
6. Stenson et al. 2013 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics,
diagnostic testing and personalized genomic medicine. Hum Genet in press.
GIVEN THE RESULTS WE RECOMMEND:
Surveillance: Individuals with biallelic MUTYH germline mutations:
In the US: pan-colonoscopy every one to two years beginning at age 25-30 years; following colectomy, endoscopy of any remaining colon or
rectum every one to two years. Upper endoscopy and side viewing duodenoscopy every 3-5 years beginning at age 30-35 years. For
extraintestinal malignancies surveillance is for existing protocols offered to the general population.
In Europe: pan-colonoscopy beginning at age 18-20 years; upper endoscopy with side viewing duodenoscopy beginning at age 25-30 years;
follow up depending on disease severity.
Individuals with a heterozygous MUTYH germline mutation: offer average moderate-risk colorectal screening based on family history.
Evaluation of relatives at risk: Offer molecular genetic testing for the familial mutations to all sibs of an individual with genetically confirmed
MAP in order to reduce morbidity and mortality through early diagnosis and treatment.
Advanced Molecular Diagnostics, LLC 19 Spear Road Suite 312 Ramsey, NJ 07446 P 201.825.0186 F 201.962.7393 GeneIDLab.com info@geneidlab.com
CLIA # 31D2053667 NPI # 17900235

P: 4 OF 4

GENEID ADVANCED MOLECULAR DIAGNOSTICS, LLC .


Seshamma T. Reddy M.D., Ph.D. Medical Director

Daniel Cohen M.D. Scientific Director

19 Spear Road Suite 312 Ramsey, NJ 07446


P 866.436.3263 F 201.962.7393
GeneIDLab.com info@geneidlab.com
Date 03.06.2014
NEXT GENERATION SEQUENCING- PREVENTEST -MOLECULAR REPORT
Patient Name: XXXXXXXX

AMD access#: GEN14-XXXX

Ordering Physicians: Dr XXXXXXXXXX

Genetic counseling. MAP is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of
being affected, a 50% chance of being a carrier with a small increased risk for CRC, and a 25% chance of being unaffected and not a carrier.
It is recommended that these test results be communicated to the patient in a setting that includes appropriate genetic counseling by a
licensed/certified genetic counselor.
These test results should only be used in conjunction with the patients clinical history and any previous analysis of appropriate family
members. Further clinical assessment and family history is recommended to determine patient risk for hereditary cancer.

Advanced Molecular Diagnostics, LLC 19 Spear Road Suite 312 Ramsey, NJ 07446 P 201.825.0186 F 201.962.7393 GeneIDLab.com info@geneIDlab.com
CLIA # 31D2053667 NPI # 17900235

What Do I Do When I Get the Test Results?


Ask patient to schedule an appointment with
you for a top line summary of the results
Refer patient to a Genetic Counselor
(local or telephone consultation with Informed DNA)
Test results will be either negative or positive
for an increased risk of cancer
Patients with an increased risk of cancer may
have one or more of the following options:
-Increased frequency of cancer screenings
-Avoiding specific risk factors
-Making lifestyle changes
-Taking preventative medications
-Have risk-reducing surgery

19 Spear Rd. Suite 312 Ramsey NJ 07446 (866) GENE-AMD - www.GeneIDLab.com

Cancer Genetic Counseling Referral

9/3/2013

Date ___________________________

Patient Information

Physician Information

Name:____________________________________________________ Date of Birth:____ /____ /_________

________________________________
Medical Center/Practice

Phone:_____________________ Cell:____________________ E-mail:________________________________


Insurance a copy of the patient's insurance card is required*

________________________________
Primary Provider

Please expedite genetic counseling for immediate


management decisions (2-4 business days)

________________________________
NPI

Billing
2

________________________________
Practice Contact

Bill to Industrial Account Number__________________


Self pay

Bill to Patient Insurance


QA Program_____________ of _____________

Reason for Referral

________________________________
E-mail

Personal and/or family history of cancer. What type? (check all that apply)
PATIENT

FAMILy
MEMBER

PATIENT

Breast
Ovarian
Colon (or rectal)
Uterine (not cervical)
Pancreatic
Stomach or intestinal
Kidney or urinary tract
Thyroid

________________________________
Address

FAMILy
MEMBER

Melanoma
Colon polyps

_________________ _____ ________


City
State
Zip

Known cancer gene mutation (such as


BRCA1/2 or HNPCC/Lynch genes or others)

________________________________
Secondary Provider

Other (please specify) ____________________

________________________________
NPI

________________________________________________

________________________________
Referring Provider's Signature

See attached screening form

Fax completed form to:

Laboratory Preferences
4

(760) 203-1194

InformedDNA considers test quality, cost, and physician preference when selecting a laboratory.
(FOF*%-BC"EWBODFE.PMFDVMBS%JBHOPTUJDT --$
Please specify any lab preferences: ___________________________________________________

TQFBS3E4VJUF3BNTFZ/+ 


Patient Documentation - Fax with Referral


Pathology reports

Patient genetic test results

b. Insurance documentation.

To refer by phone

800.975.4819
To refer by email

referral@informedDNA.com

a. Clinical. Please include the following (if performed)


5

________________ _______________
Phone
Fax

Family member genetic test results

A copy of front and back of the patient's insurance card.

To refer online

refer.informedDNA.com
2013 Informed Medical Decisions, Inc.

CONFIDENTIAL PATIENT INFORMATION

Personalized
Healthcare Report
Cancer Genetic Counseling
Provided by:
Whitney L. Ducaine MGC, CGC

Prepared for:
Dr. Gene Genetest

Report prepared on: Oct 21, 2012

1-800-975-4819
www.informedDNA.com

NOTICE: If you are not, or not authorized by Ms. Test Patient, to review this document, please return to designated
recipient or contact InformedDNA at 1-800-975-4819 and/or mail entire document to: INFORMED MEDICAL DECISIONS,
INC, Attn: Security Officer, 360 Central Ave, Suite 1230 St. Petersburg, FL 33701

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Overview
IMPRESSIONS
1.

Ms. Test Patient is a 39 yr old non-Jewish, Caucasian (English, Irish and Scottish) and
African-American female with a personal and family history of cancer.

2.

Personal history of bilateral breast cancer diagnosed at age 38 (DCIS and invasive triple
negative cancer).

3.

Family history of breast and skin cancer.

4.

Genetic testing identified a deleterious mutation in the BRCA2 gene, L2926X.

5.

This result confirms the diagnosis of Hereditary Breast and Ovarian Cancer syndrome
(HBOC).

RECOMMENDATIONS
1.

Management based on the NCCN (www.nccn.org) recommendations for HBOC, as


detailed below.

2.

Genetic counseling/testing for other at risk relatives.

Personal & Family History


FAMILY HISTORY
Family history was obtained and reviewed. Please see the pedigree enclosed with the Summary
Report for complete family history documentation.
NOTE: Although family medical history information was reported that may increase the risk for
other health conditions, todays discussion was based solely on the risk for cancer and the risk
for these other conditions was not analyzed or discussed at length. The family history of heart
disease should be provided to all physicians following Ms. Test Patient as this may have an
impact on their recommendations or medical management.
SURGICAL HISTORY
Bilateral breast biopsies @ 38;
bilateral breast cancer (L DCIS ER+PR+;R invasive ductal ER-PR-Her2-)
Bilateral mastectomy on 9/19/12 for treatment of breast cancer
Hemorrhoidectomy around age 28

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2 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

MEDICAL HISTORY
Fibrocystic breasts
SCREENING HISTORY
Breast self exam (BSE) monthly since age 18
Clinical breast exam (CBE) annually since age 25
Mammogram annually since age 35
Breast ultrasound annually since age 35
Breast MRI once at age 38
Pelvic exam/Pap annually since age 25
Colonoscopy never
HORMONE HISTORY
Menarche at age 13; First child born at age 17; Premenopausal.
No oral contraceptive use; NuvaRing for 15 months (ages 37 to 38); No hormone replacement
therapy (HRT) use; No Tamoxifen/Raloxifene use.
SOCIAL HISTORY
Never smoker
6-10 glasses of alcohol per week on average; Exercises 2-3 times per week

Counseling & Education


HEREDITARY BREAST AND OVARIAN CANCER SYNDROME
The personal and family history of cancer made the patient a candidate for genetic testing for
hereditary breast and ovarian cancer syndrome (caused by mutations in the BRCA1 and BRCA2
genes). The genetic test was "POSITIVE FOR A DELETERIOUS MUTATION" in the BRCA2 gene.
The specific gene mutation is L2926X. As a result of this genetic test, a diagnosis of hereditary
breast and ovarian cancer syndrome has been made.

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3 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Risks & Recommendations


HEREDITARY BREAST AND OVARIAN CANCER (HBOC) SYNDROME
The following is a list of cancer risks for people with hereditary breast and ovarian cancer
syndrome:

Cancer Type

Risk for those with a

Risk in the general

70)

70)

56%-87%

8%

Up to 44%

<2%

BRCA1

Unknown

<0.05%

BRCA2

6%

BRCA mutation (by age population (by age

Breast
Ovarian
BRCA1
BRCA2

27%

Male breast

Second primary breast cancer


BRCA1

64%

BRCA2

50%

Ovarian cancer after breast cancer

16%

Unknown

8% (20% by age 80)

8%

BRCA1

1.3%

0.5%

BRCA2

2%

Prostate
Pancreatic

Melanoma

2%-11%

2%

BRCA1

Unknown

BRCA2

5%

The following are standard recommendations for hereditary breast and ovarian cancer
syndrome. These recommendations should be discussed with a doctor in light of the patient's
personal history.
For Women
Increased Surveillance

Breast self-exam monthly, beginning at age 18

Clinical breast exam every 6-12 months, beginning at age 25

Mammogram and breast MRI yearly, beginning at age 25

Transvaginal ultrasound + CA-125 (preferably after day 5 of menstrual cycle in


premenopausal women) every 6 months, beginning at age 30 or 5-10 years before the
youngest ovarian cancer diagnosis in the family.

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4 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Chemoprevention
The risks and benefits of drugs to reduce the risk of breast cancer (i.e. tamoxifen) and ovarian
cancer (i.e. oral contraceptives) should be discussed with a doctor.
Preventive Surgery

The option of preventive mastectomy should be discussed with a doctor (Ms. Test

Bilateral Salpingo-oophorectomy is recommended between the ages of 35 and 40 or

Patient just had this surgery in September 2012)

after child bearing; this option should be discussed with a doctor


For Men

Breast self exam monthly, beginning at age 35

Adhere to screening guidelines for prostate cancer

The option of mammograms at age 40 should be discussed with a doctor

Clinical breast exam every 6-12 months, beginning at age 35

For Women and Men

There are no standard screening guidelines for other cancer risks that are associated with BRCA
mutations, including pancreatic cancer and melanoma. It is recommended that a full body skin
exam be considered. A consult with a gastroenterologist to discuss pancreatic cancer is also
reasonable, with consideration given to research studies on pancreatic cancer screening.
OTHER CANCER RISKS NOT RELATED TO BRCA1/2:
COLORECTAL CANCER
Based on the lack of colorectal polyps and cancer in the family history, there is no reason to
consider the patient at increased risk to develop this type of cancer. The average persons risk
to develop colorectal cancer is 6% in a lifetime ( Gastroenterology 2000;119:837-853). This
history should be discussed with a doctor who can make appropriate recommendations for
colonoscopy screening. The National Comprehensive Cancer Networks clinical practice

guidelines (www.nccn.org) would recommend this procedure every 10 years, starting at age 50.
SKIN CANCER (NON-MELANOMA)
The patient's maternal grandfather's diagnosis of non-melanoma skin cancer may increase the
risk to develop this disease, but the exact risk is unknown. The patient should discuss skin
cancer screening with a doctor, including clinical skin exams and self skin exams. More
information about examining skin for signs of skin cancer is available at:

http://www.aad.org/spot-skin-cancer/understanding-skin-cancer/how-do-i-check-myskin. It is also important to limit sun exposure and use proper protection (i.e. clothing, hats,
sunscreen) when outdoors.

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5 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

IMPLICATIONS FOR FAMILY MEMBERS

Since the patient has tested positive for a BRCA2 gene mutation, each first-degree relative

(parents, children, siblings) has a 50% chance to carry the same mutation. Other more distant
relatives may also have the mutation. Any adult relatives can be tested for the specific gene
mutation ("single site" testing) to better understand their personal cancer risks. People who
carry the gene mutation are at increased risk for cancer and require special screening and

medical management. Children of these individuals are also at risk to carry the gene mutation
and should consider "single site" testing when they reach adulthood (typically at 18-25 years of
age). Relatives who do not carry the gene mutation are likely at average risk for breast and
ovarian cancer and can follow general population cancer screening guidelines. Children of
these individuals are not at risk to carry the gene mutation and do not need to consider "single
site" testing.

Based on the family history, it is unclear from which parent the BRCA2 mutation was inherited.

We would encourage the patients parents to have single site testing for this mutation to clarify
which family member are truly at risk. If this mutation were identified in a maternal or paternal
relative, this would also confirm that it was inherited from that side of the family.
The following people should receive genetic counseling and consider genetic testing:
Relative

Chance to have BRCA2 mutation

Daughters

50%

Siblings

50%

Parents

50%

Aunts/Uncles

25%

Cousins

12.5%

If any relatives choose not to have genetic testing, they should be managed conservatively and
follow the screening guidelines for hereditary breast and ovarian cancer syndrome. Relatives
who are interested in genetic testing should consider speaking with a genetic counselor either
via telephone (www.informeddna.com or 800-975-4819) or in their local area (www.nsgc.org or
http://www.cancer.gov/search/genetics_services/). Enclosed is a letter that can be used to
share this information with the family.
SUPPORT RESOURCES
The following resources provide information and support through informational websites,
message boards, and peer-to-peer programs with other individuals from families at high risk
for breast or ovarian cancer:

FORCE (Facing Our Risk of Cancer Empowered) - www.facingourrisk.org

Bright Pink - www.bebrightpink.org

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6 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Confronting Hereditary Breast and Ovarian Cancer: Identify Your Risk, Understand Your
Options, Change Your Destiny (A Johns Hopkins Press Health Book) by Sue Friedman,
Rebecca Sutphen, Kathy Steligo with forward by Mark H. Greene (Jan 25, 2012)

FUTURE CONSIDERATIONS
We should be contacted for updated risks and recommendations if:

any relative has a genetic test for hereditary cancer, no matter what the result.

there are changes to the family history.

once a year for updates on recommendations.

A follow up appointment is available to the patient at any time to review the recommendations
included in this report and discuss any questions after further considering these results and
discussing them with the family and providers. We can also discuss the implications for the

patient's relatives based on her parents test results. Ms. Test Patient's genetic counselor will
follow up with her within six months to check in and see if a follow up appointment is desired.

Plan
1.

Ms. Test Patient will speak to her family members about pursuing BRCA2 single site
genetic counseling and testing.

2.

Ms. Test Patient will speak to her doctors about the management suggestions outlined
in this letter.

3.

Ms. Test Patient will follow-up with us if her family history were to change, as this
information may impact our recommendations.

Share with Family


Some of the genetic risks discussed during your consultation will be relevant and important to
your relatives, and they may benefit from speaking with a genetic counselor. Please call me if
you would like guidance before you approach your family, or you may invite them to call 1800-975-4819 or visit www.informedDNA.com to schedule an appointment with:
Whitney L. Ducaine MGC, CGC
Certified Genetic Counselor
Informed Medical Decisions, Inc.
Wducaine@informedDNA.com
1-800-975-4819 x 833
www.informedDNA.com | 800.975.4819

7 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

KEEP IN CONTACT:
The field of genetic medicine is rapidly evolving and changing. The information provided in this
report is based on current testing technology, national best practice guidelines and insurance
coverage criteria. Please keep in contact with your genetic counselor annually for any advances
that may impact the information in this report.

Enclosure: Genetic Test Results

Disclaimer: Our risk assessments are based entirely on an individuals reported personal and family history, as well as
any genetic test results. The accuracy of our risk assessment depends on the correctness of the information we are

given regarding your personal and family medical history. If you discover that any of the family history information you
have provided is different than summarized in this report, or if any other individuals in your family develop a medical

condition, please contact us with this information. Additionally, please contact us if anyone in your family has genetic

testing, no matter what the result. Please call an InformedDNA Patient Care Coordinator at (800) 975-4819 to report
any errors in this Summary Report.

2012, Informed Medical Decisions, Inc.

www.informedDNA.com | 800.975.4819

8 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Three Generation Pedigree

Please note the colored symbols/icons reported on the pedigree represent the information provided below each
individual, which may include a symptom, diagnosis or genetic status. A half colored icon does not necessarily refer to
carrier status and a full colored icon does not necessarily refer to an individual with a known genetic condition. To
determine the meaning of the symbol, please refer to the notes made below each individual on the pedigree.

www.informedDNA.com | 800.975.4819

9 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Letter to Family
Prepared for the family members of:
Ms. Test Patient
Prepared By:
Whitney Ducaine, MGC, CGC

1-800-975-4819
www.informedDNA.com

www.informedDNA.com | 800.975.4819

10 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Overview
This letter is to notify you that a member of your family has tested positive for a hereditary
gene mutation that results in an increased risk to develop certain forms of cancer. We are
writing this letter on her behalf to let you know you are also at an increased risk to carry this
same gene mutation. Additional information on your risk and what you can do to be more
informed is outlined below.

Personal & Family History


Ms. Test Patient underwent genetic counseling and subsequent genetic testing due to a
personal and family history of cancer.

Counseling & Education


HEREDITARY BREAST AND OVARIAN CANCER SYNDROME
The majority of cases of breast and ovarian cancer are not due to a hereditary gene mutation.
However, a gene mutation causing increased risks for both breast and ovarian cancer can be
passed on in some families and one of these mutations has been identified in your family.
RISKS FOR INDIVIDUALS WITH A BRCA GENE MUTATION
The following is a list of cancer risks for people with hereditary breast and ovarian cancer
syndrome.
Cancer Type

Risk for those with

Risk in the

a BRCA mutation

general population

(by age 70)

(by age 70)

56%-87%

8%

BRCA1

Up to 44%

Less than 2%

BRCA2

27%

Breast
Ovarian

Male breast
BRCA1

Unknown

BRCA2

6%

Second primary breast cancer


BRCA1

64%

BRCA2

50%

www.informedDNA.com | 800.975.4819

<0.05%

2%-11%

11 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Ovarian cancer after breast cancer


Prostate

16%

Unknown

8%

8%

(20% by age 80)


Pancreatic
BRCA1

1.3%

BRCA2

2%

0.5%

Melanoma
BRCA1
BRCA2

Unknown
5%

2%

Specific screening and medical management recommendations exist for individuals with

hereditary breast and ovarian cancer syndrome. These recommendations allow high risk
individuals to catch a cancer early when it is treatable, or even prevent cancer altogether. A
genetic counselor can review these risks with you in more detail based upon your results from
genetic testing. If you test negative for the mutation in your family your risk for cancer will be
closer to general population risk.

Risks & Recommendations


Your risk to test positive for the same BRCA gene mutation identified in Ms. Patient depends
upon how you are related to her.
Each of Ms. Patient's first-degree relatives (parents, children, siblings) have a 50% chance to
carry the same mutation. Other more distant relatives may also have the mutation
(aunts/uncles, grandparents, nieces & nephews have a 25% risk). Cousins are also at risk. Any
adult relatives can be tested for your specific gene mutation ("single site" testing) to better
understand their personal cancer risks. The cost of this testing is ~$475 if paid out-of-pocket,
but is covered by most insurance plans when there is a known mutation in the family.

Relatives who carry the gene mutation are at increased risk for cancer and require special
screening and medical management. Children of these individuals are also at risk to carry the
gene mutation and should consider "single site" testing when they reach adulthood (typically at
18 years of age).
Relatives who do not carry the gene mutation are at average risk for cancer and can follow
general population cancer screening guidelines. Children of these individuals are not at risk to
carry the gene mutation and do not need to consider "single site" testing.

www.informedDNA.com | 800.975.4819

12 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

Get Genetic Counseling & Testing


Genetic testing should always be done with the help of a genetic counselor. We encourage you
to pursue genetic counseling and testing to better understand your risk to develop cancer, as
well as the risk for other individuals in your more immediate family.
You may call 1-800-975-4819 or visit www.informedDNA.com to schedule an appointment.
Please request an appointment with the same genetic counselor as Ms. Patient:
Whitney L. Ducaine MGC, CGC
Certified Genetic Counselor
Informed Medical Decisions, Inc.
Wducaine@informedDNA.com
1-800-975-4819 x 833

Disclaimer: Our risk assessments are based entirely on an individuals reported personal and family
history, as well as any genetic test results.

The accuracy of our risk assessment depends on the

correctness of the information we are given regarding your personal and family medical history. If you
discover that any of the family history information you have provided is different than summarized in this
report, or if any other individuals in your family develop a medical condition, please contact us with this
information. Additionally, please contact us if anyone in your family has genetic testing, no matter what

the result. Please call InformedDNA Patient Care Coordinator at (800) 975-4819 to report any errors in
this Family Letter.

2012, Informed Medical Decisions, Inc.

www.informedDNA.com | 800.975.4819

13 of 14

Gene Genetest, MD

Ms. Test Patient

Consult Date: 10/19/2012

DOB: 1/1/1973

CONSENT TO RELEASE MEDICAL RECORDS


Instructions:
This form should be completed and faxed to InformedDNA (760-203-1191) or scan and
email to patientcare@informeddna.com
Please list the full names (First and Last) of all family members who can have access to your
genetic test results and information from your genetic counseling session (personal/family
history, pedigree)

Your family members can schedule an appointment with your genetic counselor and have
full access to this information for their genetic counseling session and risk assessment.

Records to be Released for (Name): MS. TEST PATIENT


Date of Request: 10-21-2012
Birth Date: 01/01/1973
Address:
Phone Number:
Information to be released:
* personal and family history (pedigree, encounter note information)
* results from genetic testing

I request the above information be released to:

PLEASE LIST FIRST AND LAST NAMES OF ALL FAMILY MEMBERS WHO MAY ACCESS YOUR INFORMATION

___________________________________________________

Patient or Authorized Legal Representative Signature

www.informedDNA.com | 800.975.4819

________________________

Date

14 of 14

PREVENTEST
Analysis
Cancer Full Risk Analysis

Buccal Swab Sample Collection Instruction Sheet


PLEASE OBTAIN AND SUBMIT TWO (2) SWABS PER PATIENT
Take your DNA sample at least 1 hour after eating, drinking or cleaning your teeth.
For best results, rinse mouth with water immediately prior to sampling.

1
Open GeneID BRCA Analysis Kit
envelope. Complete enclosed
requisition and consent forms Write
Patient's name and date on outside of
each plastic swab tube

3
Insert the swab into the patients
mouth and rub firmly against the inside
of the cheek or underneath lower and
upper lip. For standard DNA collection
rub for a minimum of 45 seconds.
Important use reasonable, firm and
solid pressure.

5
Seal the tubes securely with the caps
provided and repeat procedure.

2
Remove the swab from the tube,
taking care not to touch the white
swab head with your fingers. Use two
swabs per patient.

4
Place the swabs back into each tube.
Do not touch the swab head with your
fingers.

6
Placed sealed tubes and Requisition and
Consent Forms into the pre-paid Fed
Exevelope and call Fed Ex for pick up

PREVENTEST Cancer Risk Analysis


Test Request Form and Statement of Medical Necessity
TO AVOID DELAYS PLEASE COMPLETE ENTIRE FORM
ADVANCED MOLECULAR DIAGNOSTICS, LLC
19 SPEAR ROAD SUITE 312 RAMSEY, NJ 07446

(201) 825-0186

ORDERING PHYSICIAN

(201) 962-7393

Info@GeneIDLab.com

SEND RESULTS TO

NAME (LAST,FIRST,DEGREE)

NPI #

ADDRESS

CITY

OFFICE PHONE

FAX

NAME (LAST,FIRST,DEGREE)

STATE

ZIP

EMAIL

NPI #

ADDRESS

CITY

OFFICE PHONE

FAX

PATIENT INFORMATION

(COMPLETE INFORMATION REQUIRED FOR INSURANCE COVERAGE)

PATIENT NAME (LAST,FIRST,INITIAL)

PATIENT ID#

ADDRESS

CITY

www.GeneIDLab.com

(IF OTHER THAN ORDERING PHYSICIAN)

STATE

FEMALE
ZIP

MALE

DAYTIME PHONE

STATE

ZIP

EMAIL

BIRTH DATE (MM/DD/YYYY)

EMAIL

ANCESTRY AND CLINICAL HISTORY


WESTERN/NORTHERN EUROPE
CENTRAL/EASTERNEUROPE
ASHKENAZI
LATIN AMERICAN/CARIBBEAN
PATIENT PERSONAL HISTORY OF CANCER

AFRICA
NEAR EAST/MIDDLE EAST
ASIA
NATIVE AMERICAN
OTHER________________
FAMILY HISTORY OF CANCER

(CHECK ALL THAT APPLY AND INCLUDE AT LEAST ONE ICD-9 CODE)

(Please Indicate Relationship, Maternal or Paternal, Site of Cancer, Age at Diagnosis)


(Please Indicate if Bilateral, Premenopausal, or Triple Negative Breast Cancer)

NO KNOWN FAMILY HISTORY


NO PERSONAL HISTORY OF CANCER
CANCER TYPE(S): _________________________________________________
AGE at PRIMARY DIAGNOSIS: ______
BONE MARROW TRANSPLANT RECIPIENT
DIAGNOSIS ICD-9 CODES:
USE THESE CODES: 151.9-153.9-174.9-175.9-179.9-183.0-211.3- 233.30V10.05-V10.3-V12.72-V16.0-V16.3-V16.41-V18.9
USE THESE CODES:________________________________________________

RELATIONSHIP
_______________
_______________
_______________
_______________
_______________
_______________

MATERNAL PATERNAL CANCER SITE


_______________
_______________
_______________
_______________
_______________
_______________

AGE AT DX
_______
_______
_______
_______
_______
_______

TEST REQUIRED

Hereditary Cancer Risk Analysis.

(APC, ATM, BRCA1, BRCA2, CDH1, CDKN2A, HER2, HRAS, MLH1, PTEN, RET, SMAD4, STK11, TP53

Plus Complimentary Information)

INFORMED CONSENT AND STATEMENT OF MEDICAL NECESSITY


I have supplied information to the patient regarding genetic testing and the patient has given consent for genetic testing to be performed. I further confirm that this
test is medically necessary for the diagnosis or detection of a disease, illness, impairment, symptom, syndrome or disorder, and the results will be used in the medical
management and treatment decisions for the patient. I confirm that the person listed in the Ordering Physician space above is authorized by law to order the test(s)
requested herein.
(Note: Test requests without a signature will not be processed)
_________________________________ __________________
Medical Professional Signature
Date

PAYMENT INFORMATION
OPTION 1: PLEASE BILL MY INSURANCE (requires patient signature and enlarged copy of both sides of insurance card(s). If two cards are submitted, indicate which is primary)
Name of Policy Holder: __________________________________
Patient Relationship to Policy Holder:
Self Spouse

DOB: _____________
Insurance ID #/ SSN: ___________________________
Child Other Authorization / Referral #: ________________________________

I hereby represent that I am covered by insurance and authorize Advanced Molecular Diagnostics, LLC to furnish my designated insurance carrier, health plan, or third party administrator the
information on this form and other information provided by my healthcare provider necessary for reimbursement. I authorize Plan benefits to be payable to Advanced Molecular Diagnostics,
LLC. I understand that GeneID will contact me prior to test start with my total financial responsibility. If requested, I agree to assist Advanced Molecular Diagnostics, LLC in resolving
insurance claim issues and if I do not assist, I may be responsible for the full test cost. I permit a copy of this authorization to be used in place of the original. I authorize Advanced Molecular
Diagnostics, LLC to inform my plan of my test result ONLY if it is negative and ONLY if test results are required for preauthorization of or payment for reflex/ additional testing.
__________________________________________________________________________
______________________________________________________

Patient / Responsible Party Signature


Date
OPTION 2: PATIENT PAYMENT (Please call Customer Service for questions regarding test prices)
Please bill my credit card
VISA
M/C
AMEX
DISCOVER
in the amount of $ __________________ Card #__________ _______________________ Exp. Date: ________________ CCV # ______________________
Card Holders Name (please print) : _____________________________________________ Cardholder Signature: __________________________________

Personal Check, Cashiers Check, or money order enclosed, Please make payable to Advanced Molecular Diagnostics, LLC.

Advanced Molecular Diagnostics, LLC. 19 Spear Road Suite 312 Ramsey, NJ 07446 P. 201.825.0186 F. 201.962.7393

BRCA-1 and BRCA-2 Genetic Testing Informed Consent.

Page 1 of 2

I am interested in obtaining a genetic test by submitting a biological sample of my own blood, tissue or other body fluids.

Specifically the genetic test that will be performed is

BRCA-1

OR

I am the parent or legal guardian of the person who is interested in obtaining a genetic test by submitting a biological sample of that persons blood, tissue or
other body fluids. The person for whom the sample is submitted
In the event that I am completing this
form for a person other than myself, I understand that the terms I me and mine as used below refer to the person for whom the test will be performed.

I understand

that, specifically the genetic test that will be performed is BRCA-1

Introduction.

This is a voluntary test for inherited susceptibility to cancer and you may wish to seek genetic counseling prior to signing this form. Read this form carefully
before making your decision about testing.
Test Purpose and methodology.
The purpose of this molecular genetic test is to ascertain if I am, my child is, or my unborn child is carrying mutation(s) predisposing to or causing the specific
disease or condition. A supplemental disease description sheet is available from Advanced Molecular Diagnostics- The blood, body fluid, or tissue specimen
submitted is required for isolation and purification of DNA for molecular genetic testing. Advanced Molecular Diagnostics, LLC. will analyze the DNA of a
specific gene(s) to look for mutations associated with a particular hereditary cancer syndrome.
Test Results.
I understand that due to the complexity of DNA based testing and the implications of the results, these results will be reported only through the patients
designated physician(s) or genetic counselor (where allowed) and that I must contact my provider to obtain the results of the test. The test results, in addition,
could be released to all who, by law, may have access to such data.
I understand
that the results should be evaluated in the context of personal and family health history, the results of physical examination, laboratory and
hospital test, and clinical impression of my healthcare provider. I understand that possible result outcomes include positive, negative and uncertain.
I understand
that if results of the molecular genetics tests are positive, meaning that a mutation (s) that is associated with an increased risk for
hereditary cancer was identified, I may be a carrier of, predisposed to, or have the specific disease or condition tested for and I may want to consider further
independent testing. I understand that knowing this information may help me and my doctor to make more informed choices about my health care, such as
screening, risk-reducing surgeries and preventive medication strategies.
I understand
that if results of the molecular genetics tests are negative, meaning that a mutation was not identified, I may not be a carrier of, predisposed
to, or have the specific disease or condition tested for and I may want to consider further independent testing, consult with my physician, or pursue genetic
counseling.
I understand
that if I am the first person tested in my family, I still have at least the same risk of cancer as does a person in the general population. I may
still be at greater than average risk for hereditary cancer due to a genetic predisposition that cannot be detected by this test, either in the gene(s) I was tested for or
in another gene linked to hereditary cancer.
I understand
population.

that if my test is negative for a mutation known to be in my family, I am considered to have the same risks as others in the general

I understand the limitations of these results: the test results could be based upon probabilities, and may not provide a 100% definitive conclusion to either
genetic disease predisposition or manifestations.
I understand
that this test analyzes only certain important gene(s) associated with a specific hereditary cancer syndrome(s). Genetic testing clarifies
cancer risks for only those cancers related to the genes analyzed.
I understand
accurate results.

that the molecular genetic test may not generate results and that an additional blood, body fluid, or tissue sample may be needed to obtain

I understand
that the molecular genetic test may not generate accurate results for the following reasons: sample mix-up, samples unavailable from critical
family members, maternal contamination of prenatal samples, inaccurate reporting of family relationships, or technical problems, but not limited to these.

Advanced Molecular Diagnostics, LLC. 19 Spear Road Suite 312 Ramsey, NJ 07446 P. 201.825.0186 F. 201.962.7393

Page 2 of 2
I understand
risk.

that an uncertain result could be reported, meaning that a genetic change was detected but it is not known if this change is linked to cancer

I understand
that I still have at least the same risk of cancer as the general population. In addition, I may still be at greater than average risk due to this
change or a genetic predisposition that cannot be detected by this test, either in the gene(s) I was tested for or in another gene linked to hereditary cancer.
I understand
that the genetic tests results have implications for blood relatives. In consultation with an appropriate healthcare provider, I may wish to
discuss sharing the test results with certain blood relatives who may be at risk. If I decide to do this, I should also consider the best way to make this disclosure.
I understand
that Advanced Molecular Diagnostics, LLC. keeps test results confidential and is fully in compliance with all Health Insurance Portability
and Accountability Act (HIPAA) regulations. Advanced Molecular Diagnostics, LLC. will only release your test results to my health care provider, his or her
designee, or to another healthcare provider as directed by me (or a person legally authorized to act on my behalf) in writing, or otherwise as required by federal
and state laws.
I understand
Advanced Molecular Diagnostics, LLC. reserves the right to: 1) suggest additional molecular testing if it would help in resolving the
patients clinical genotyping, 2) report additional testing results (other than requested) if they are clinically relevant to the patients and their families, and refuse
testing if one of the conditions in the Patient Consent form is not met.
Use of Specimens.
After testing is completed, I understand that my blood, body fluid or tissue specimens may be disposed of or retained indefinitely for research, test validation,
and/or education as long as my privacy is maintained. I understand that no compensation will be given nor will funds be forthcoming due to any invention(s)
resulting from research and development using the specimens submitted. I understand that I may refuse to submit my specimen for use in this way and may
withdraw my consent at any time by contacting the medical director. I understand that my refusal to consent to medical research will not affect my results.
Indicate consent or denial below. If a box is not marked consent is implied.
Consent to the use of my sample for research.

NO

Recommendations.
I understand that due to the dynamics of this field, there continues to be new information and data. It is recommended that I keep in contact with my healthcare
provider, annually, to learn of any new developments in cancer genetics and to provide any updates to my personal or family history which may affect my cancer
risks.
Financial Responsibility.
Genetic testing of appropriate individuals is typically reimbursed by health insurance or covered by HMOs. I understand that I am responsible for any cost of the
genetic test not reimbursed by insurance. I understand that if test cancellations are received prior to test set-up, processing will be honored at no charge. I
understand that when requests for test cancellation are received after set-up, a cancellation report will be generated and a set-up fee will be charged. Once testing
is initiated cancellation is not possible. I understand that I am responsible for all charges for testing and will be contacted for payment in the event my health
plan does not reimburse for the test or AMD does not receive a response from my health plan in a reasonable length of time.
Patient Consent Statement.
By signing below, I, the patient having the test performed, acknowledge that:
I have read or have had read to me all of the above statements and understand the information regarding molecular genetics testing and have had the opportunity to ask questions I
might have about the testing, the procedure, the risks, and the alternatives prior to my informed consent. I agree to have the molecular genetic testing. I consent to being tested for
predisposition to hereditary cancer and I will discuss the results and appropriate medical management with my healthcare provider/ genetic counselor. I am the owner of my medical
history and test results. My healthcare practioner should not discuss or disclose my test results and associated medical history to a third party, unless related to treatment or payment
for treatment, without my express written authorization.

_____________________________________

__________

Name of patient having testing (please print)

Date of Birth

____________________________________

__________

Signature of patient (or legal guardian)

Date

*Genetic testing on children under the age of 18 requires that the ordering healthcare provider obtain an informed consent
from a parent or legal guardian. If legal guardian, specify relationship to the parent: _________________________________

PREVENTEST Accuracy Data


False Positive and False Negative Rate: < .1%
Accuracy: intra-assay and inter-assay: 100%:
Based on split samples with known BRCA1-2
mutations from DNA Tissue Banks in US
.
Analytic Specificity: 100% (Based on negative
samples tested to evaluate the probability that the
assay will not detect a sequence variation when
none are present. False positive=zero.)
Analytic Sensitivity: 99%. Based on positive
controls containing 1% of targeted sequence in
99% background of negative genomic DNA

19 Spear Rd. Suite 312 Ramsey NJ 07446 (866) GENE-AMD - www.GeneIDLab.com

19 Spear Rd. Suite 312 Ramsey NJ 07446 (866) GENE-AMD - www.GeneIDLab.com

Are you at risk for developing a solid tumor Cancer?


Is there a history of Breast, Ovarian, Colon, Skin, Pancreas,
Prostate, Endometrium, or Stomach Cancer in you or your
immediate or extended family?

We are now offering a Non-Invasive Cancer Screening


Test for these 8 Cancer types that is covered by most
insurance plans
Please check all applicable boxes. If you check 2 boxes
you may be eligible for the cancer screening:

!
!

Dr Daniel Ricardo Cohen


Curriculum Vitae
160 Saddle River Road Monsey, NY 10952 (845) 356-5273 drcohen2507@msn.com

1. BOARD CERTIFICATION
Board Certified in Medical Genetics, School of Medicine, Second District of the Province of Santa Fe,
Argentina- 1999
Board Certified in Gynecology, School of Medicine, Second District of the Province of Santa Fe, Argentina1984

2. HUMAN GENOME PROJECT- BRCA Protocol Lead Investigator, Argentina


3. POST DOCTORAL TRAINING IN MOLECULAR GENETICS
-Post Doctoral Fellowship in Cancer Research and Molecular Genetics. John Hopkins University, School of
Medicine, Baltimore, MD, 2000 2003
-Post Doctoral Fellowship in Signaling Pathway and Cancer. Center for Cell Dynamics. Cell Biology,
Biomedical Engineering and Pediatrics. Johns Hopkins University School of Medicine. 2004-2005
-Post Doctoral Research Associate in Signaling Pathway and Human Fertility Laboratory for Spinal Cord
Injury and Fertility Research , University of Miami- Sch.of Medicine, Miami, FL, 2003- 2004
-Post Doctoral Fellowship in Cytogenetics and Molecular Prenatal Diagnosis- Chorion villus sampling Unit.
-Post Doctoral Fellowship in Cancer & Genetics. Stem Cell Assay Laboratory Institute Jules Bordet, Tumor
Stem Cells Culture Unit, Universite Livre de Brussels, Belgium, 1985 1986

4. MOLECULAR LABORATORY- CLINICAL EXPERIENCE (Director Level)


DIRECTORSHIPS

Scientific Director- Advanced Molecular Diagnostics Laboratory, NJ, 2012 (Current)


Director, Clinical Genetics & Laboratory
Rosario, Argentina, 1992 1999

Department of Pediatrics, University of Rosario School of Medicine,

Director, Prenatal Diagnostic Laboratory


Medicine, Rosario, Argentina, 1988 1999

Obstetrics and Gynecology Service, Womans Hospital School of

Medical Director, Forensic Laboratory


Rosario, Argentina, 1995 1996

Rosario Interdisciplinary Center for Filial and Forensic Studies,

5. TEACHING EXPERIENCE
Dexus Institute, Barcelona, Spain, 1997 1999
Director, Ibero-American Society of Applied Genetics
Department of Pediatrics, National University of Rosario School of Medicine, Rosario, Argentina, 1994 1997
Professor, Clinical Genetics
Department of Human Physiology, National University of Rosario School of Medicine, Rosario, Argentina, 1987
Board of Examiners
Department of Human Physiology, National University of Rosario School of Medicine, Rosario, Argentina, 1983
1985
Professor of Physiology
Roque Saenz Pea Hospital, National University of Rosario School of Medicine, Rosario, Argentina, 1980 1984
Professor of Gynecology

6. ADVISORY IN HUMAN GENETICS


Investigation Center in Social Philosophy, National University of Rosario School of Law, Rosario, Argentina,
1998 1999
Advisor in Genetics, Area of Bioethics
University National of Rosario, Rosario, Argentina, 1992 1999
Advisor in Genetics, Department of Pediatrics-Neurology, School of Medicine
Government of Rio Negro, Republica Argentina, 1993 1994
Advisor in Prenatal Diagnosis, Medicine Research Foundation
University National of Rosario, Rosario, Argentina, 1992 1994
Advisor in Genetics, Department of Dermatology
Sociedad Iberoamericana de Salud y Ciencia, Buenos Aires, Argentina, 1993
Advisor in Human Genetics

7. AWARDS & HONORS


Listing in Whos Who in Science, USA, 1996 and 2013
Diploma of Honor Meritorious Service Award in Medicine, Government of Argentina, 1996
Lyon of Honor, Lyons International, Argentina, 1993, 1994
National Award of the Society of Obstetrics and Gynecology of Buenos Aires, Argentina, 1994
National Award, Association of Obstetrics and Gynecology of Argentina, 1990
DINAD National Award, Argentina, 1987

8. PUBLICATIONS AND PRESENTATIONS- Over 50 with 40 Lead Investigator and Author


9. BOOK CONTRIBUTIONS
Cohen, D.R. The Man and the Genetic Knowledge. Bioetica y Bioderecho N3, 91-93, 1998.
Cohen, D.R. The Beginning of Life, Chapter III of The Boys Right. Feldman, G. La Casa Argentina, 1998.
Cohen, D.R. Rapid Karyotyping in Ectopic Pregnancies, Chapter 18, 91-95, Chorionic Villus Sampling. Rao, K.
and Nicolaides, K., J.P. Vij-Jaypee Brothers, Medical Publishers, LTD, B-3 EMCA House, 1998.
Cohen, D.R. The Human Cloning, The Mans Ethical Challenge. Bioetica y Bioderecho N2, 61-63, 1997.
Cohen, D.R. Genetics and Pregnancy. Editorial of Rosarios Newspaper La Capital. September 15, 1987.
10. Online EDUCOM Courses by Daniel Ricardo Cohen:
Genetics in Clinical Neurology
Genetics in Obstetrics and Gynecology
Genetics in Pediatrics
11. PATENTS
Brackett, N., Cohen, D.R., C. Lynne. Cytokine Receptor Blockers Improve Sperm Motility in Men
Affected by Spinal Cord Injury. US Patent #10/748.637, Confirmation #6890, Group #1651. December
30, 2003. (In process)
Cohen, D.R. and M. Freddi. Continue Cloning Keratinocytes Stem Cell System for Skin Culture.
Republic of Argentina Patent #194.902 REM/AML. 1999. Buenos Aires, Argentina.

12. LANGUAGES
Fluent in English and Spanish
Working knowledge of French, Italian and Hebrew

Gene
APC

Mutations increase risk for:


Adenomatous Polyposis Syndrome
Turcot syndrome
Colon cancer
Stomach (gastric) cancers
Gardner syndrome
Breast cancer
Stomach (gastric) cancers
Pancreas cancer
Lung cancer
Ovarian cancer
Breast cancer
Juvenile Polyposis Syndrome
Colorectal cancer
Ovarian cancer

BRCA1

Breast cancer
Ovarian cancer
Male breast cancer
Pancreatic cancer
Prostate cancer

1, 23, 24
1, 23, 24, 26
1, 23, 25
1, 2, 23, 28
23, 27

BRCA2

Breast cancer
Ovarian cancer
Male breast cancer
Pancreatic cancer
Prostate cancer
Melanoma
Breast cancer

1, 23, 24
1, 23, 24, 26
1, 23, 25
1, 2, 23, 28
23, 27
2, 33

CDH1

Breast cancer
Hereditary diffuse gastric cancer
Colorectal cancer
Ovarian cancer
Prostate cancer

1, 2, 36
1,2, 36
1, 37
2, 39
2, 40

CDK4
CDKN2A

Cutaneous malignant melanoma


Cutaneous malignant melanoma 2
Melanoma astrocytoma syndrome
Melanoma-pancreatic cancer syndrome
Breast cancer

2, 42
2, 43
2, 44
2, 45
2, 46, 49

ATM

BARD1
BMPR1A
BRAF

BRIP1

CHEK2

References
1, 2, 3
2, 5
2, 4
2, 7
6
2, 10, 15
2, 11
2, 13
2, 14
2, 15
2, 16
1, 2, 17
1, 18
2, 149

2, 34

EGFR

Li-Fraumeni syndrome
Prostate cancer
Lung cancer
Colon cancer
Ovarian cancer
Lung cancer
Anal cancer
Epithelial ovarian cancer

2, 47
2, 38
2, 50
2, 51
2, 53
2, 54, 55
56, 57
58, 59

ELAC2

2, 62, 63

Prostate cancer, hereditary

EPCAM

Lynch syndrome

HRAS1

Breast cancer

2, 150

KRAS

Pancreatic cancer
Lung cancer
Colorectal cancer

2, 74, 75
2, 76
2, 77

MLH1

Lynch syndrome
Endometrial cancer
Ovarian cancer

1, 2, 79, 82
1, 80
1, 81

MRE11A
MSH2

Breast & ovarian cancer


Lynch syndrome

2, 151
1, 2, 88, 89

MSH6

Lynch syndrome

1, 2, 88, 89

MUTYH
NBN

Familial adenomatous polyposis


Breast cancer
Prostate cancer
Ovarian cancer
Melanoma

2, 95, 96
2, 99
2, 100
2, 101
2, 102

PALB2

Breast cancer

2, 104, 105, 106

PMS2

Lynch syndrome

1, 2, 88, 89

PTCH1

Gorlin syndrome
Breast cancer
Colon cancer

2, 101, 111
2, 110
2, 110

2, 65, 66

PTEN

Cowden syndrome
Prostate cancer
Endometrial cancer
Melanoma
Breast cancer!
Breast-ovarian cancer

1, 2, 113
2, 116
2, 117
2, 120
2, 121, 122
2, 123, 124

RET

Multiple endocrine neoplasia

1, 2, 129

SMAD4

Juvenile polyposis syndrome


Colon cancer
Pancreas cancer
Breast cancer
Non-small cell lung carcinoma
Melanoma
Breast cancer
Li-Fraumeni syndrome
Colorectal cancer

1, 2, 134
2, 136
2, 137
2, 139
2, 140
2, 141
1, 2, 142
1, 2, 144
2, 145

RAD50
RAD51C

STK11

TP53

References

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and treatment. Histopathology,62:2-30.

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HOW TO REDUCE RISK OF GASTRIC


CANCER:

FREQUENTLY ASKED QUESTIONS

Genetic Mutations

WILL THESE TEST RESULTS PREVENT ME FROM GETTING HEALTH


INSURANCE IN THE FUTURE?
Increased Screenings

SKIN CANCER
WHAT IS THE TESTING PROCEDURE?
FACTORS THAT MAY INCREASE YOUR
RISK OF SKIN CANCER INCLUDE:

HOW TO REDUCE RISK OF SKIN


CANCER:
WILL INSURANCE PAY FOR THIS TEST?
clothing
Avoid tanning beds
Vigilant screening

GeneID

FOR MORE INFORMATION GO TO


WWW.PREVENTESTS.COM OR CALL1-866-GENE-AMD

The PREVENTEST, by GeneID

The PREVENTEST, by GeneID

GeneID

TM

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