Pengujian genetik yang terkait dengan neoplasma ganas
Ikhtisar.
Tes genetik terkait neoplasma ganas (kanker) adalah cara untuk mengetahui informasi genetik yang dapat membantu mendiagnosis, mengobati, dan mencegah kanker. Kanker adalah penyakit yang disebabkan oleh mutasi genetik yang menyebabkan sel normal kehilangan kendali dan tumbuh secara tidak normal. Pengujian genetik ini memungkinkan kami untuk memahami karakteristik masing-masing kanker dan mengembangkan rencana perawatan yang lebih personal.
Alur inspeksi
Temukan pusat medis yang menawarkan tes pilihan Anda. Anda akan diminta untuk membuat janji temu, menerima konseling genetik dan mengisi formulir persetujuan sebelum spesimen diambil. Hasilnya akan dikirimkan kepada Anda melalui email. Jika perlu, konseling genetik akan diulang.
Keuntungan melakukan inspeksi.
Jika Anda memiliki riwayat keluarga atau riwayat neoplasma ganas sebelumnya, Anda akan mengetahui apakah Anda secara genetik cenderung mengembangkan neoplasma ganas, sehingga Anda dapat melakukan tindakan pencegahan sebelumnya.
Bagaimana jika hasilnya positif?
Sangat disarankan agar tes pencitraan (misalnya CT, MRI, PET) dan tes darah (misalnya penanda tumor kanker) digunakan dalam kombinasi untuk memeriksa secara teratur keberadaan neoplasma ganas yang aktual dan saat ini. Dengan mengetahui nama-nama gen yang relevan, memungkinkan untuk melakukan skrining yang lebih tepat sasaran.
prosedur pemeriksaan
DNA dikumpulkan dari mukosa bukal bagian dalam dengan alat pengumpul DNA khusus.
Laporan pemeriksaan (mis. Kanker umum)
Waktu yang diperlukan untuk pemeriksaan.
Dibutuhkan waktu sekitar 4 minggu dari pengumpulan spesimen.
Pertanyaan yang sering diajukan.
1.Di mana mereka dapat diterima?
Pengujian tersedia di klinik yang berafiliasi dengan Laboratorium Sanitasi Tokyo.
2.Kapan saya bisa menerimanya?
Pilih tanggal dan waktu dari daftar klinik yang tersedia untuk pemeriksaan.
3.Bagaimana spesimen akan diambil?
Dari mukosa bukal.
4.Dapatkah hasil tes hilang?
Hal ini jarang sekali tidak dapat diuji.
5.Bisakah saya mendapatkan saran genetik?
Seorang ahli genetika tersedia untuk konsultasi berdasarkan permintaan. Namun, ada biaya tambahan. Kami mengenakan biaya per jam.
poin penting
- Interpretasi dan konseling:
- Hasil tes genetik bersifat kompleks dan memerlukan pengetahuan khusus. Dukungan dari konselor atau spesialis genetik penting untuk menginterpretasikan hasil tes dan untuk konseling.
- Pertimbangan etika dan sosial:
- Pengujian genetik juga memiliki tantangan etika dan sosial, seperti melindungi privasi informasi genetik dan mencegah diskriminasi saat membeli asuransi.
Daftar penyakit yang dapat diselidiki untuk setiap panel.
penyakit yang sesuai | ataksia telangiektatik | Penyakit terkait mutasi BAP1 | sindrom defisiensi perbaikan ketidakcocokan bawaan | Sindrom DICER 1. | Poliposis koli familial | Sindrom anemia Fanconi | Sindrom kanker payudara dan ovarium yang diturunkan | Kanker lambung yang menyebar secara turun-temurun | Sindrom poliposis campuran herediter | Sindrom kanker melanoma-pankreas yang diturunkan | Sindrom pheochromocytoma herediter | sindrom poliposis remaja | Sindrom Li-Fraumeni | Sindrom Li-Fraumeni 2 | Sindrom Lynch | Neoplasia endokrin multipel tipe 1 | Neoplasia endokrin multipel tipe 2 | Poliposis terkait MUTYH. | Sindrom Peutz-Jeghers | Poliposis terkait kalibrasi polimerase. | Sindrom tumor ganas PTEN | retikuloblastoma | Sindrom Von-Hippel Lindau | Sindrom kulit kering berpigmen |
Set kanker umum | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 | 〇 |
Kanker payudara, kanker ginekologi | 〇 | × | 〇 | 〇 | × | × | 〇 | 〇 | × | × | × | × | 〇 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | × | × | × |
Kanker payudara dan ginekologi (berdasarkan pedoman) | 〇 | × | 〇 | × | × | × | 〇 | 〇 | × | × | × | × | 〇 | 〇 | 〇 | × | × | × | 〇 | × | 〇 | × | × | × |
Kanker payudara (risiko tinggi) | × | × | × | × | × | × | 〇 | 〇 | × | × | × | × | 〇 | × | × | × | × | × | 〇 | × | 〇 | × | × | × |
Terkait BRCA1 / BRCA2 | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × |
kanker kolorektal | × | × | 〇 | × | 〇 | × | × | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | × | × | × |
Kanker kolorektal risiko tinggi | × | × | 〇 | × | 〇 | × | × | × | × | × | × | 〇 | × | × | 〇 | × | × | 〇 | 〇 | × | × | × | × | × |
Kanker kolorektal (tidak terkait polip) | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × |
Kanker kolorektal (terkait polip) | × | × | × | × | 〇 | × | × | × | × | × | × | 〇 | × | × | × | × | × | 〇 | 〇 | 〇 | × | × | × | × |
Terkait leukemia | 〇 | × | 〇 | × | × | 〇 | 〇 | × | × | × | × | × | 〇 | × | 〇 | × | × | × | × | × | × | × | × | × |
kanker perut | × | × | 〇 | × | 〇 | × | × | 〇 | × | × | 〇 | 〇 | 〇 | × | 〇 | × | × | × | 〇 | × | × | × | × | × |
kanker prostat | 〇 | × | × | × | × | × | 〇 | × | × | × | × | × | 〇 | 〇 | 〇 | × | × | × | × | × | × | × | × | × |
kanker pankreas | 〇 | × | 〇 | × | 〇 | × | 〇 | × | × | 〇 | × | 〇 | 〇 | × | 〇 | 〇 | × | × | 〇 | × | × | × | × | × |
kanker ginjal | × | 〇 | 〇 | × | × | × | × | × | × | × | 〇 | × | 〇 | × | 〇 | × | × | × | × | × | 〇 | × | 〇 | × |
xeroderma pigmentosum | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 |
melanoma familial | × | 〇 | × | × | × | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | 〇 | 〇 | × | × |
pheochromocytoma | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | 〇 | × | × | × | × | × | × | 〇 | × |
kanker paratiroid | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × |
kanker tiroid | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × |
Jenis gen yang dapat diuji untuk setiap panel.
nama tes | nomor gen | 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 |
Set kanker umum | 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 | |
Kanker payudara, kanker ginekologi | 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 | × | × | × | |
Kanker payudara dan ginekologi (berdasarkan pedoman) | 19 | × | 〇 | × | 〇 | × | 〇 | 〇 | 〇 | 〇 | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | 〇 | 〇 | 〇 | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | 〇 | 〇 | × | × | × |
Kanker payudara (risiko tinggi) | 7 | × | × | × | × | × | 〇 | 〇 | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | × | × | × |
Terkait BRCA1 / BRCA2 | 2 | × | × | × | × | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × |
kanker kolorektal | 17 | 〇 | × | × | × | 〇 | × | × | × | 〇 | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | 〇 | × | 〇 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | × | 〇 | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × |
Kanker kolorektal risiko tinggi | 10 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | × | × | × | × |
Kanker kolorektal (tidak terkait polip) | 5 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × |
Kanker kolorektal (terkait polip) | 7 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | × | × | × | × |
Terkait leukemia | 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 | × | × | × | × |
kanker perut | 14 | 〇 | × | × | × | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | 〇 | × | 〇 | × | 〇 | 〇 | × | × | × |
kanker prostat | 15 | × | 〇 | × | × | × | 〇 | 〇 | × | × | × | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | × | 〇 | 〇 | × | 〇 | 〇 | 〇 | × | × | × | 〇 | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × |
kanker pankreas | 17 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | × | 〇 | 〇 | × | × | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | 〇 | 〇 | × | × | × |
kanker ginjal | 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 |
melanoma familial | 7 | × | × | 〇 | × | × | × | 〇 | × | × | 〇 | 〇 | 〇 | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | 〇 | × | × | × |
pheochromocytoma | 6 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | 〇 | 〇 | 〇 | 〇 | × | × | × | × | × | 〇 | × | × |
kanker paratiroid | 1 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × |
kanker tiroid | 1 | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | × | 〇 | × | × | × | × | × | × | × | × | × | × | × | × |