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

List of diseases that can be examined for each panel

Applicable diseasesAtaxia-telangiectasiaBAP1 Mutation-Associated DisordersCongenital mismatch repair deficiency syndromeDICER 1 syndrome
Familial coli polyposis
Fanconi anemia syndromeHereditary Breast and Ovarian Cancer SyndromeHereditary diffuse gastric cancerHereditary mixed polyposis syndrome Hereditary melanoma-pancreatic cancer syndromeHereditary pheochromocytoma syndromes Juvenile polyposis syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 2 Lynch SyndromeMultiple endocrine neoplasia type 1Multiple endocrine neoplasia type 2MUTYH-related polyposisPeutz-Jeghers syndrome Polymerase calibration-related polyposisPTEN hamartoma 
syndrome
Retinoblastoma Von-Hippel Lindau syndromeXeroderma pigmentosum
General Cancer Set
Breast cancer, gynecologic cancer××××××××××××
Breast cancer, gynecologic cancer (guideline-based)×××××××××××××××
Breast cancer (high risk)×××××××××××××××××××
BRCA1/BRCA2 related×××××××××××××××××××××××
Colorectal cancer××××××××××××
High-risk colorectal cancer××××××××××××××××××
Colorectal cancer (non-polyp related)××××××××××××××××××××××
Colorectal cancer (polyp-related)×××××××××××××××××××
Leukemia-related××××××××××××××××××
Stomach cancer××××××××××××××××
Prostate cancer×××××××××××××××××××
Pancreatic cancer××××××××××××××
Kidney cancer×××××××××××××××××
Xeroderma pigmentosum×××××××××××××××××××××××
Familial melanoma×××××××××××××××××××
Pheochromocytoma×××××××××××××××××××××
Parathyroid cancer×××××××××××××××××××××××
Thyroid cancer×××××××××××××××××××××××

Type of genes that can be tested for each panel

Test nameNumber of genesAPCATMBAP1BARD1BMPR1ABRCA1BRCA2BRIP1CDH1CDK4CDKN2ACDKN2Ap16
(INK4A)
CDKN2Ap14
(ARF)
CHEK2DDB2DICER1EPCAMERCC1ERCC2ERCC3ERCC4ERCC5FANCAFANCBFANCCFANCD2FANCEFANCFFANCGFANCIFANCLFANCMGREM1HOXB13MEN1MLH1MRE11MSH2MSH6MUTYHNBNPALB2PMS2POLD1POLEPOLHPTENRAD50RAD51CRAD51DRB1RETSDHAF2SDHBSDHCSDHDSLX4SMAD4SMARCA4STK11TP53VHLXPAXPC
General Cancer Set62
Breast cancer, gynecologic cancer26×××××××××××××××××××××××××××××××××××××
Breast cancer, gynecologic cancer (guideline-based)19 ×××××××××××××××××××××××××××××××××××××××××××××
Breast cancer (high risk)7×××××××××××××××××××××××××××××××××××××××××××××××××××××××××
BRCA1/BRCA2 related2××××××××××××××××××××××××××××××××××××××××××××××××××××××××××××××
Colorectal cancer17×××××××××××××××××××××××××××××××××××××××××××××××
High-risk colorectal cancer10 ××××××××××××××××××××××××××××××××××××××××××××××××××××××
Colorectal cancer (non-polyp related)5×××××××××××××××××××××××××××××××××××××××××××××××××××××××××××
Colorectal cancer (polyp-related)7×××××××××××××××××××××××××××××××××××××××××××××××××××××××××
Leukemia-related24××××××××××××××××××××××××××××××××××××××××
Stomach cancer14××××××××××××××××××××××××××××××××××××××××××××××××××
Prostate cancer15×××××××××××××××××××××××××××××××××××××××××××××××××
Pancreatic cancer17×××××××××××××××××××××××××××××××××××××××××××××
Kidney cancer13×××××××××××××××××××××××××××××××××××××××××××××××××××
Xeroderma pigmentosum9×××××××××××××××××××××××××××××××××××××××××××××××××××××××
Familial melanoma7 ×××××××××××××××××××××××××××××××××××××××××××××××××××××××
Pheochromocytoma6××××××××××××××××××××××××××××××××××××××××××××××××××××××××××
Parathyroid cancer1×××××××××××××××××××××××××××××××××××××××××××××××××××××××××××××××
Thyroid cancer1×××××××××××××××××××××××××××××××××××××××××××××××××××××××××××××××

疾患一覧