Tumor related testing items

Subdivision categories	Entry name	Methodology	Detection content	Detection significance

Non-small cell lung cancer	EGFR gene mutation detection	Fluorescence PCR method	EGFR (covering exons 18, 19, 20 and 21, 29 sites related to targeted drugs)	Personalized medication guidance: Before using targeted drugs for Non-small cell lung cancer patients, assist clinical doctors in determining the patient's sensitivity/resistance to EGFR-TKI drugs.






Non-small cell lung cancer	EGFR gene T790M mutation detection	Digital PCR method	EGFR-T790M locus	EGFR-T790M test can evaluate the sensitivity and resistance of EGFR-TKI before Targeted therapy; Regularly monitor for acquired T790M resistance mutations after using EGFR-TKI.






Non-small cell lung cancer	Detection of L858R mutation in EGFR gene	Digital PCR method	EGFR-L858R locus	It can assist clinical doctors in selecting EGFR-TKI drugs; Continuous follow-up can be conducted to determine the efficacy of the medication.






Non-small cell lung cancer	Detection of EGFR gene 19Del mutation	Digital PCR method	EGFR-19Del locus	It can assist clinical doctors in selecting EGFR-TKI drugs; Continuous follow-up can be conducted to determine the efficacy of the medication.






Non-small cell lung cancer	MET gene amplification detection	Digital PCR method	MET gene	Assist clinical doctors in selecting targeted drugs; Monitoring TKI drug resistance in Non-small cell lung cancer patients and confirming the mechanism of drug resistance.






Non-small cell lung cancer	EML4-ALK gene fusion detection	Fluorescence PCR method	19 fusion mutations of EML4-ALK gene	Qualitative detection of EML4-ALK gene fusion mutations in RNA samples and evaluation of the benefits of ALK kinase inhibitor therapy.





Non-small cell lung cancer	ROS1 gene fusion detection	Fluorescence PCR method	15 fusion mutations in ROS1 gene	Patients with Non-small cell lung cancer before treatment with targeted drugs should be tested to select appropriate targeted drugs.





Non-small cell lung cancer	RET gene fusion detection in lung cancer	Fluorescence PCR method	10 fusion mutations of RET gene	Qualitative detection of RET gene fusion mutations in Non-small cell lung cancer patients to assist clinical doctors in selecting appropriate targeted drugs.





Non-small cell lung cancer	Lung cancer 3 Genetic testing	Fluorescence PCR method	EGFR+ALK+ROS1 joint detection	Personalized medication guidance for selecting appropriate targeted drugs for Non-small cell lung cancer patients.






Non-small cell lung cancer	Lung cancer 5 Genetic testing	Fluorescence PCR method	EGFR+ALK+ROS1+RET+BRAF joint detection	Personalized medication guidance for selecting appropriate targeted drugs for Non-small cell lung cancer patients.






Non small cell lung cancer, breast cancer cancer, Esophageal cancer, colorectal cancer, uterine cancer, and gastric cancer	HER2 gene amplification detection	Digital PCR method	Her2 gene	Personalized medication guidance for selecting appropriate targeted drugs for Non-small cell lung cancer patients. Monitoring TKI drug resistance in Non-small cell lung cancer patients and confirming the mechanism of drug resistance.






Non-small cell lung cancer,Colorectal cancer	K-ras gene mutation detection	Fluorescence PCR method	K-ras (covering 21 sites related to targeted drugs in exons 2, 3 and 4)	K-ras mutations are associated with reduced sensitivity to EGFR-TKI treatment; Pre use Sotorasib to detect its own K-ras gene status to determine sensitivity.






Non small cell lung cancer, Melanoma, colorectal cancer, thyroid papillary cancer	B-raf gene mutation detection	Fluorescence PCR method	B-raf（V600E）	B-raf gene mutation predicts the resistance of EGFR monoclonal antibody, and Genetic testing is carried out before medication to assist clinicians in selecting appropriate target drugs; Guide targeted drug use for B-raf mutations.







Non small cell lung cancer, colorectal cancer, Melanoma, gastrointestinal stromal tumor, breast cancer	Tumor 13 Genetic testing	NGS	13 driving genes,482 mutation sites,52 fusions,27 Exon Mutation types:SNV,InDel fusion:EGFR,KRAS,BRAF,PIK3CA,NRAS,HER2,MET,AKT1,c-KIT,PDGFRA,ALK,ROS1,RET.	Individualized drug use: Before using targeted drugs for treatment of Non-small cell lung cancer, Genetic testing can be carried out to assist clinicians in judging the sensitivity of patients to drugs; Monitoring drug efficacy and resistance; For patients who develop resistance to targeted drugs and need to adjust their medication regimen.






Breast cancer	Genetic testing for predicting cardiac toxicity in systematic treatment of breast cancer	NGS	A total of 38 genes and 56 loci related to drug use in breast cancer were detected; Mainly genes related to Drug metabolism and cardiovascular	Predict cardiac toxicity and minimize toxic side effects while maximizing treatment effectiveness.
Breast cancer	Breast cancer recurrence monitoring	NGS	20 genes, including KRAS, JAK3, CREBBP, PTEN, RB1, TP53, ERBB2, GATA3, which are clinically related to breast cancer recurrence, were detected, with 1357 loci.	Recurrence monitoring: molecular level monitoring of breast cancer patients for recurrence.


Breast cancer	Detection of 21 gene expression in breast cancer	Fluorescence PCR method	Breast cancer 21 gene:Ki67、STK15、Survivin、 CyclinB1、MYBL2、Stromolysin3、CathepsinL2、 GER7、HER2、GSTM1、CD68、BAG1、 ER、PR、BCL2、SCUBE2、β-actin、 GAPDH、RPLPO、GUS、TFRC。	Estrogen receptor positive (ER+), HER2 negative invasive breast cancer patients. 21 Genetic testing can be used to assess the recurrence risk and the benefits of chemotherapy, which is helpful for clinical selection of appropriate treatment scheme.




Breast cancer, ovarian cancer, pancreatic cancer, prostate cancer, primary peritoneal cancer	BRCA1/2 gene mutation detection	NGS	BRCA1, BRCA2 (full Exon detection)	Risk assessment: Assessing family genetic risks, preventive surgery and medication can be taken in advance; Medication guidance: breast cancer patients with BRCA1/2 mutation are sensitive to PARP inhibitors such as olapari and platinum chemotherapeutic drugs.






Breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, etc	Homologous recombination repair defect (HRD) detection	NGS	37 HHR related genes and 5 MMR related genes.	Assess family genetic risks; Medication guidance; Evaluate the benefits of PARP inhibitors through HRR pathway genes and HRD status.





Endometrial cancer	Molecular typing detection of endometrial cancer	NGS	The whole CDS region of PTEN, TP53, MLH1, MSH2, MSH6, PMS2, and EPCAM genes, as well as the 34 loci of POLE exon9-14, CTNNB1 exon3, and MSI, were also detected. Hot spot mutations of KRAS and PIK3CA genes were also detected to assist in typing.	1.Through molecular typing detection,independent prognostic information can be provided; 2.Detecting MMR gene mutations and MSI status,guiding immunotherapy and the selection of 5-FU chemotherapy drugs; 3.Hereditary nonpolyposis colorectal cancer screening; 4.Assisted typing through detection of genes such as KRAS and PTEN.




Colorectal	Genetic testing in colorectal cancer	NGS	Six colorectal cancer Targeted therapy related genes recommended by the guidelines and consensus: KRAS,BRAF,NRAS,PIK3CA,TP53,ERBB2; Two chemotherapy related genes UGT1A1 and DPYP;34 MSI loci.	Adjuvant therapy for colorectal cancer, decision-making and testing of first-line treatment plans, and personalized treatment plans formulated through molecular features.






Colorectal	Colorectal cancer 3 Genetic testing	NGS	KRAS exon2,3,and 4 have a total of 54 loci; NRAS exon2,3 with a total of 46 loci; BRAF exon15 has a total of 46 mutation sites.	Colorectal cancer patients are tested for KRAS, BRAF, and NRAS gene status to determine whether they are resistant to EGFR-KTI targeted drugs before use.






Thyroid cancer	Detection of RET gene fusion in thyroid cancer	Fluorescence PCR method	12 fusion mutations of RET gene	Qualitative detection of RET gene fusion mutations in samples of thyroid cancer patients provides reference for the selection of RET kinase inhibitors and assists clinical doctors in selecting appropriate targeted drugs for thyroid papillary adenocarcinoma patients.





Thyroid cancer	Genetic testing of thyroid cancer	NGS	DNA level:16 genes; RNA level:209 fusion forms of 87 genes.	Identification of benign and malignant thyroid nodules, classification, heredity, recurrence risk of thyroid cancer, and guidance for molecular Targeted therapy of thyroid cancer.





Cholangiocarcinoma	Detection of FGFR1/2/3 gene fusion in Cholangiocarcinoma	NGS	FGFR1 (17 species), FGFR2 (10 species), FGFR3 (6 species), and 5 internal control genes.	To guide the Targeted therapy of Cholangiocarcinoma patients.




Hereditary nonpolyposis colorectal cancer related cancers	Genetic testing of Hereditary nonpolyposis colorectal cancer	NGS	MMR related genes MLH1, MSH2, MSH6, PMS2, and EPCAM, as well as V600E mutations in the BRAF gene.	Gene screening for Hereditary nonpolyposis colorectal cancer, guiding clinicians to manage and intervene patients with Lynch syndrome. At the same time, detection of the BRAF gene V600E mutation assists in the screening of Hereditary nonpolyposis colorectal cancer in colorectal cancer patients.





Glioma	MGMT gene methylation detection	Fluorescence PCR method	MGMT promoter region methylation at 7 sites	To predict the therapeutic effect of Temozolomide or other chemotherapy drugs; Helps clinical development of appropriate treatment plans.




Lymphatic Plasma cell lymphoma/Fahrenheit megaglobulinemia (LPL/WM)	Detection of L265P mutation in MYD88 gene	Fluorescence PCR method	MYD88 gene L265P locus	Testing LPL/WM patients before treatment can assist clinical doctors in selecting ibutinib drugs.





Leukemia	Detection of T315I mutation in BCR-ABL gene	Fluorescence PCR method	T315I mutation site of BCR-ABL gene	Detection of conventional targeted drug resistance mechanisms in patients with chronic myeloid leukemia.
Solid tumor	Tumor Microsatellite Instability (MSI) Detection	NGS	34 MSI loci	Provide a basis for patient immunotherapy; Molecular markers of colorectal cancer Hereditary nonpolyposis colorectal cancer.




All solid tumors	NTRK gene fusion detection	Fluorescence PCR method	Detection of NTRK1, NTRK2, and NTRK3 gene fusion	Detect whether solid tumors have NTRK gene fusion and choose whether NTRK inhibitors can be used for treatment.





Multiple solid tumors and hematological tumors	Mutation detection of 56 driving genes in pan cancer species	NGS	Detect 56 tumor related genes, 82 RNA fusion types, and 3000 COSMIC mutation sites. Point mutation, small fragment insertion deletion (DNA), gene fusion (RNA), gene copy number variation.	Individualized medication: Based on genetic variation information, assist clinical doctors in determining the sensitivity of patients to drugs and evaluating their prognosis.






Solid tumor	Tumor panoramic Genetic testing (602 gene)	NGS	602 tumor related genes:covering the Coding region of solid tumor related genes and the Intron region of fusion genes;Classic MSI sequence,hereditary tumor related genes,immune positive and negative regulatory factors. Mutation types:SNV,CNV,InDel,Fusion.	Evaluate targeted drug sensitivity and resistance based on genetic variation information; TMB/MSI/MMR evaluation of PD-1/PD-L1 immunotherapy benefits; HRR evaluates the benefits of PRAP inhibitors.







Tumor patients who require chemotherapy	Genomic SNP detection of chemotherapy drugs	NGS	26 target genes and 33 loci.	Guide the evaluation of the efficacy and toxicity of 19 first-line chemotherapy drugs.
Tumor patients who require radiotherapy	SNP detection of genes related to radiation toxicity and side effects	NGS	61 SNP loci of 41 genes related to radiation toxicity and side effects	Predict the patient's susceptibility to radiation toxicity and side effects, and adjust the treatment plan.
Hereditary tumor	102 gene mutation detection in hereditary tumors	NGS	The whole Coding region of 102 genes and its vicinity(±20bp) Intron region detection	Screening for single base mutations (SNV), insertion/deletion mutations (InDel), and large fragment rearrangements related to tumors provides reference for tumor genetic risk assessment and guiding precise drug use in tumors.
Solid tumor	Detection of circulating tumor cells (CTC) (single item)	Microfluidics chip technology based on immune magnetic beads	It is suitable for lung cancer, breast cancer, prostate cancer, ovarian cancer, gastric cancer, liver cancer, colorectal cancer, cervical cancer and other cancers.	By detecting the number of CTC cells, it can be used for evaluating the efficacy of solid tumors, monitoring recurrence and metastasis, evaluating prognosis, and assisting diagnosis.
All solid tumors	Detection of circulating tumor cells (CTC) (all items)	Microfluidics chip technology based on immune magnetic beads	It is applicable to all solid tumors such as lung cancer, breast cancer, prostate cancer, ovarian cancer, gastric cancer, liver cancer, colorectal cancer, cervical cancer, etc.	By detecting the number of CTC cells, it can be used for evaluating the efficacy of solid tumors, monitoring recurrence and metastasis, evaluating prognosis, and assisting diagnosis.