Genetic Testing for Malignant Neoplasms
Overview
Malignant neoplasms (cancer) related genetic testing is a way to find out genetic information that can help diagnose, treat, and prevent cancer. Cancer is a disease in which normal cells lose control and grow abnormally due to genetic mutations. This genetic testing allows us to understand the characteristics of individual cancers and develop more personalized treatment plans.
Inspection process
Find a medical facility that offers the test of your choice. After you make an appointment, receive genetic counseling, and obtain a consent form, we will collect your specimen. The results will be sent to you by e-mail. If necessary, genetic counseling will be conducted again.
Advantages of conducting inspections
If you have a familial or pre-existing history of malignant neoplasms, you will know if you are genetically predisposed to develop malignant neoplasms, allowing you to take preventive measures in advance.
What if it is positive?
It is strongly recommended that imaging tests (CT, MRI, PET, etc.) and blood tests (cancer tumor markers, etc.) be used in combination to periodically examine whether malignant neoplasms are actually present. Knowing the names of the relevant genes makes it possible to conduct more targeted screening.
Inspection procedure
DNA is collected from the inside of the buccal mucosa with a special DNA collection device.
Examination report (e.g., general cancer)
Time required for inspection
It takes about 4 weeks from the time of specimen collection.
Frequently Asked Questions
1.Where can I receive it?
Testing is available at any clinic affiliated with the Tokyo Hygienic Laboratory.
2.When can I receive it?
Please select a date and time from the list of available clinics.
3.How will specimens be taken?
From the buccal mucosa.
4.Is it possible to get no test results?
It is rarely uninspectable.
5.Can I get a genetic consultation?
A genetic specialist is available for consultation upon request. However, there is an additional fee. We charge by the hour.
Important point
- Interpretation and counseling:
- Genetic test results are complex and require specialized knowledge. The support of a genetic counselor or specialist is important for interpretation of results and counseling.
- Ethical and social considerations:
- Genetic testing also entails ethical and social issues, such as protecting the privacy of genetic information and preventing discrimination when purchasing insurance.
List of diseases that can be examined for each panel
Type of genes that can be tested for each panel
Test name | Number of genes | APC | ATM | BAP1 | BARD1 | BMPR1A | BRCA1 | BRCA2 | BRIP1 | CDH1 | CDK4 | CDKN2A | CDKN2Ap16 (INK4A) | CDKN2Ap14 (ARF) | CHEK2 | DDB2 | DICER1 | EPCAM | ERCC1 | ERCC2 | ERCC3 | ERCC4 | ERCC5 | FANCA | FANCB | FANCC | FANCD2 | FANCE | FANCF | FANCG | FANCI | FANCL | FANCM | GREM1 | HOXB13 | MEN1 | MLH1 | MRE11 | MSH2 | MSH6 | MUTYH | NBN | PALB2 | PMS2 | POLD1 | POLE | POLH | PTEN | RAD50 | RAD51C | RAD51D | RB1 | RET | SDHAF2 | SDHB | SDHC | SDHD | SLX4 | SMAD4 | SMARCA4 | STK11 | TP53 | VHL | XPA | XPC |
General Cancer Set | 62 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | |
Breast cancer, gynecologic cancer | 26 | × | 〇 | × | 〇 | × | 〇 | 〇 | 〇 | 〇 | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | × | 〇 | 〇 | 〇 | 〇 | × | × | × | × | × | × | × | 〇 | 〇 | 〇 | × | × | × | |
Breast cancer, gynecologic cancer (guideline-based) | 19 | × | 〇 | × | 〇 | × | 〇 | 〇 | 〇 | 〇 | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | 〇 | 〇 | 〇 | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | 〇 | 〇 | × | × | × |
Breast cancer (high risk) | 7 | × | × | × | × | × | 〇 | 〇 | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | × | × | × |
BRCA1/BRCA2 related | 2 | × | × | × | × | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × |
Colorectal cancer | 17 | 〇 | × | × | × | 〇 | × | × | × | 〇 | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | 〇 | × | 〇 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | × | 〇 | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × |
High-risk colorectal cancer | 10 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | × | × | × | × |
Colorectal cancer (non-polyp related) | 5 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × |
Colorectal cancer (polyp-related) | 7 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | × | × | × | × |
Leukemia-related | 24 | × | 〇 | × | × | × | 〇 | 〇 | 〇 | × | × | × | × | × | × | × | × | 〇 | × | × | × | 〇 | × | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | × | × | × | 〇 | × | 〇 | 〇 | × | × | 〇 | 〇 | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × |
Stomach cancer | 14 | 〇 | × | × | × | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | 〇 | × | 〇 | × | 〇 | 〇 | × | × | × |
Prostate cancer | 15 | × | 〇 | × | × | × | 〇 | 〇 | × | × | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | × | 〇 | 〇 | × | 〇 | 〇 | 〇 | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × |
Pancreatic cancer | 17 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | × | 〇 | 〇 | × | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × |
Kidney cancer | 13 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | 〇 | × | × | × | 〇 | × | × | × | × | × | 〇 | 〇 | 〇 | 〇 | × | × | × | × | 〇 | 〇 | × | × |
Xeroderma pigmentosum | 9 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 |
Familial melanoma | 7 | × | × | 〇 | × | × | × | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | 〇 | × | × | × |
Pheochromocytoma | 6 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | 〇 | 〇 | 〇 | × | × | × | × | × | 〇 | × | × |
Parathyroid cancer | 1 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × |
Thyroid cancer | 1 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × |