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Li Fraumeni Syndrome (P53)

Germline mutations in the p53 oncogene cause Li Fraumeni syndrome, a cancer predisposition syndrome characterized by dramatically increased soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and a variety of other neoplasms.

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SKU: 90500. Category: .

Product Description

Germline mutations in the p53 oncogene cause Li Fraumeni syndrome, a cancer predisposition syndrome characterized by dramatically increased soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and a variety of other neoplasms.
p53 mutations are typically inherited in an autosomal dominant pattern, in which a single mutation causes disease. All first-degree relatives (i.e., siblings, parents and children) of an individual with an p53 gene mutation have up to a 50% risk of harboring the same mutation.

90500

81405

Sequence analysis of exons 2-11 of the gene P53 (all coding exons)

Genomic DNA is amplified by polymerase chain reaction to generate templates for direct sequencing of exons 2 – 11 of the TP53 gene.

Sequencing of p53 is expected to identify a mutation in about 70% of patients with Li Fraumeni syndrome.

The test methodology is expected to detect >99% of point mutations and small insertions and deletions within the sequenced gene regions.

2-4 weeks for index tests, 1-2 weeks for family tests

  • 4 ml blood in a plastic EDTA tube shipped at room temperature
  • Tissue/Tumor Biopsy: Tissue can either be fresh or frozen, and must be shipped on dry ice. Adults: 50 mg, Children: 25 mg
  • Formalin-Fixed Paraffin Embedded: 5-10 tissue unstained slides (5-10 µM) with one H/E guidance slide or high quality micrograph with tumor region circled. Additional charge if blocks are sent.

Ship to: Transgenomic, 5 Science Park, New Haven CT, 06511

  1. Schneider and Garber (Updated 2010) Li-Fraumeni Syndrome.  In GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.ncbi.nlm.nih.gov/books/NBK1311/

Order a complimentary oncology specimen collection kit.

Statement on Billing Policies

Transgenomic believes health care costs are shared obligations between a patient and the service provider.

Patients actively participate in their own health care by selecting health plans, physicians, pharmacies, etc. As part of that participation, patients agree to pay a percentage of the services and products they use. These payments are contractually obligated and take the form of co-payments and deductibles.

Transgenomic believes no individual or entity should interfere with established contracts between a patient and a third party insurance payer.

An individual chooses the health care coverage and services they need by purchasing health care coverage from a third party insurance provider. When a third party insurance plan defers an individual’s health care costs in exchange for payment (a monthly premium) a contract has been created.

Many states have specific laws barring the interference by outside parties in a contract. For example:

Section 18-13-119 of the Colorado Criminal Code indicates that waiving or reducing of co-payment or deductibles (interference with contractual obligations entered into between the insured and the insurer) is a class 1 petty offense.

Florida Statute § 483.035 and Florida Administrative Code 59A-7.037 indicates no owner, director, administrator, physician, surgeon, consultant, employee, organization, agency, representative, or person either directly or indirectly shall pay or receive any commission, bonus, kickback, rebate or gratuity or engage in any split fee arrangement in any form whatsoever for the referral of a patient.

Massachusetts G.L.c. 111D, § 8(4) indicates a clinical laboratory shall not: (4) offer or give a commission, rebate, or other fee, directly or indirectly to any person as consideration for the referral of a specimen derived from a human body to a clinical laboratory for examination by such laboratory.

In Texas, the State Attorney General has indicated “the payment of benefits under an assignment does not relieve the covered person of contractual responsibility for the payment of deductibles and co-payments. A physician or other health care provider may not waive co-payments or deductibles by acceptance of an assignment.”

Additionally, third party insurance plans have specific language regarding the obligations of the insured:

From Cigna’s Patient’s Bill of Rights: (You have the responsibility to) “Pay all co-pays, deductibles and coinsurance for which you are responsible at the time service is rendered or when they are due.” http://www.cigna.com/member-rights

Transgenomic believes participating with both government and private payers will result in the lowest overall costs to the health care system.

Contracting and accepting both private and Government patients ensures the largest possible number of patients receive needed health care services.

Transgenomic believes no action it takes should jeopardize the patient-physician-provider relationship.

The Affordable Care Act of 2010 states, “A group health plan, or a health insurance issuer offering group or individual health insurance coverage, must not rescind coverage except in the case of fraud or an intentional misrepresentation of a material fact.”

http://healthreform.gov/newsroom/new_patients_bill_of_rights.html

The Insurance Lobby states, “In most states, it is illegal to routinely waive co-pays and deductibles for patients. Health care providers who do this may be charged with the crime of health insurance fraud because they are claiming the wrong amount for services when they make insurance claims. Example: If a patient has a 10 percent co-pay, the insurance company pays $90 on a $100 bill. But if the health care provider waives the co-pay, the patient’s bill is only $90 total, not $100.”

http://www.abramslaw.com/CM/Articles/Automatic-Waiver-of-Copays.asp

Transgenomic believes in providing comprehensive patient services.

No testing begins without the patient’s permission. Transgenomic is an in-network provider with many major insurance carriers to keep the patient’s out-of-pocket expenses as low as possible.

Benefits Investigation – Once we receive a test order, a Patient Services Associate contacts the patient’s insurance carrier to determine insurance benefits. We then contact the patient to explain their benefits and provide an estimate of out-of-pocket expenses.

Insurance Pre-authorization – We work with the patient, their insurance company, and physician to have testing pre-approved. This keeps the patient’s out-of-pocket expenses as low as possible.

Appeals – If the patient’s insurance company rejects the claim, we work with the physician and patient to appeal the decision.

Flexible Payment Plans – Patients may choose one of our flexible payment plans to help manage their out-of-pocket expenses. These are offered with no interest or financing fees. We do not require credit cards up front.

Patients receive consistent discounts across our entire catalogue of tests and not just for certain specialty tests.

Transgenomic believes in business practices that put patients first.

Transgenomic, Inc. ©2012 Transgenomic, Inc. All rights reserved.  Document No. 602216-00 02/12

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