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Hereditary Cancer (CGx)


 

Hereditary cancer is caused by inherited genetic mutation, which produces recurring patterns of the same type of cancer generally occurring at younger ages than normal and across multiple generations.

Cancer screening tests can aid in detecting cancer in its early stages, often before symptoms appear. Genetic tests, however, could provide valuable information far before symptoms were to appear.

Our next-generation sequencing test for hereditary cancer analyzes 45 genes associated with increased risk to develop cancer. We use deletion and duplication sequencing in our CGx methodology, which allows us to determine not only small insertions and deletions, but also larger structural changes, changes that are often pathogenic, and changes which other sequencing providers cannot detect.

What Can This Test Tell Me?

The results from this test include:
 

  • Positive, which means a mutation was found in one or more of the genes tested that is known to cause an increased chance of developing one or more types of cancer

  • Negative, which means no mutations were detected

  • VUS, which stands for Variant of Uncertain Significance, and indicates that a change in a gene that requires further research to determine whether it causes an increased risk for cancer or not.



A person with an inherited gene mutation (positive result) will not necessarily develop cancer, but he or she will be at a higher risk.

This test is also well-suited for those who have had cancer and want to determine if it was caused by an inherited mutation that may be passed to other family members.


Our team of clinical pathologists review and finalize each report, and this test is best interpreted by a physician and genetic counselor. 

Two Ways to Get Tested:

 

Option 1: Online Purchase

Step 1: You purchase your test online, and a collection kit is sent to your home. No medical necessity is required!

Step 2: You collect your test kit according to instructions and ship the sample back to the lab using a pre-paid label.

Step 3: Within 2-3 weeks, testing is completed, reviewed by our clinical team, and a report is electronically sent back to you.

Step 4: You schedule your pre-paid session with a genetic counselor to discuss your results.

Option 2: Bill Insurance

Step 1: Your physician orders a test based on medical necessity, and your cheek swab is collected.

Step 2: Our billing team verifies coverage and begins testing if approved. If coverage is denied, we contact you to discuss options.

Step 3: Within 2-3 weeks, testing is completed, reviewed by our clinical team, and a report is electronically sent back to your doctor.

Step 4: Your doctor reviews the report with you, and you may discuss results with a genetic counselor!

 

Cost and Coverage:

For individuals ordering their own tests: contact the office for pricing.

Includes collection kit, return shipping, and genetic counseling voucher.

Billing through insurance: a doctor's order with medical necessity for testing is required to bill insurance. Our in-house billing team is happy to answer your questions!

 

Who Should Have CGx Testing?

Individuals with a personal history of cancer are the best candidates for testing.

 

Genes Tested:

 

Custom panels are available upon request. Please submit your custom panel inquiry below!

Inquire Here

We offer several gene panels to choose from:

Comprehensive:

APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCA, FANCB, FANCC, FANCD2, FANCE, FH, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, POLD1, POLE, PMS2***, PTCH1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, SMAD4, STK11, TP53, VHL

Breast:

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NTHL1, PALB2, PTEN, STK11, TP53

Uterine:

EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53

Ovarian:

BARD1, BRCA1, BRCA2, BRIP1, CDH1, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Colorectal:

APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

Pancreatic:

APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, PALB2, SMAD4, STK11, TP53

Lynch Syndrome:

EPCAM, MLH1, MSH2, MSH6, PMS2

 

Location

Lehigh Valley Genomics
2550 Brodhead Road, Suite 202
Bethlehem, PA 18020
Phone: 267-296-1325
Fax: 484-895-3719

Office Hours

Get in touch

267-296-1325