Biomarkers Tested

Blood in stool (FIT) Cancer gene in stool (KRAS) Cancer gene in stool (BRAF) Cancer cells in stool (hDNA) In more detail:- Faecal Immunochemical Test (FIT) detects hidden blood in the stool which may indicate bowel cancer and can also be from more benign causes like Piles        Mutated KRAS gene in the stool that is found in Bowel cancer and Bowel polyps and is related to poor survival and increased tumour aggressiveness                                              Mutated BRAF gene in the stool that is found in Bowel cancer and Bowel polyps and is related to poor survival ​            ​Quantification of human (h)DNA determines the relative amounts of human DNA in the stool. Increased concentrations of human DNA in stool samples are found in Bowel cancer samples. 

Sentis Hereditary Cancer Panel(Female)(74 genes) ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CHEK2, EPCAM, EXT1, EXT2, FANCG, FH, FLCN, GALNT12, KIT, MAX, MEN1, MET, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, NTRK1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPC Sentis Hereditary Cancer Panel (Male)(79 genes) ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CHEK2 ,EPCAM, EXT1, EXT2, FAM175A, FANCA, FANCG, FH, FLCN, GALNT12, GEN1, HOXB13, KIT, MAX, MEN1, MET, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, NTRK1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SPINK1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPC

Sentis Hereditary Breast and Ovarian Cancer (HBOC)(26 genes) BRCA1, BRCA2, CHEK2, PALB2, BRIP1, TP53, PTEN, STK11, CDH1, ATM, BARD1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, NF1, EPCAM, SMARCA4, CDK12

SENTIS™ Hereditary Colorectal Cancer APC, AXIN2, EPCAM, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, STK11, PTEN,

SENTIS™ Hereditary Prostate Cancer BRCA1, BRCA2, CHEK2, HOXB13, MSH2, MSH6, PMS2, MLH1, ATM, BRIP1, PALB2, MRE11A, NBN, RAD51C, RAD51D, ATR, FAM175A, GEN1, MUTYH, TP53, EPCAM, FANCA,CDK12

SENTIS™ Hereditary Pancreatic Cancer BRCA2, PALB2, BRCA1, MLH1, MSH2, MSH6, PMS2, PRSS1, SPINK1, ATM, CDKN2A,FANCG

SENTIS™ HPV Test “high-risk” types of HPV, including HPV -16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, 68 and 2 “low-risk” types of the virus, HPV -6, 11.

SENTIS™ Lung Cancer Panel(ctDNA) BGI’s lung cancer panel covers 11 genes with direct therapeutic implications for 20 targeted drugs, including those recommended in the latest NCCN guidelines. The panel detects all classes of genomic alterations including SNV, CNV, InDels and Fusion using routine FFPE samples, tumor tissue, DNA or peripheral blood. The panel allows highly sensitive detection of 189 hotspot mutations across 11 genes, from tissue or liquid biopsy samples, providing a comprehensive molecular profiling of lung cancer for clinicians and researchers

BGI SENTIS™ Cancer + Discovery (ctDNA) NF1 ARID1A VHL TSC2 TSC1 STK11 PTEN PIK3CA NF2 MTOR MPL KRAS FLCN FBXW7 ESR1 AKT2 AKT1 PDGFRB PDGFRA NRAS KIT FGFR1 ETV6 CTNNB1 ABL1 MYD88 BRAF MET MAP2K1 HRAS ERBB2 EGFR MAP2K2 MED12 IDH1 TP53 TP53 PALB2 FANCC FANCA CHEK2 BRIP1 BRCA2 BRCA1 ATR ATM MCL1 VEGFA RET RAF1 KDR FLT4 FLT3 EWSR1 CCND1 TFE3 NR4A3 ROS1 DUSP6 ALK ERBB3 FGFR3 FGFR2 RB1 CDKN2A CDK4 CCNE1 PMS2 MSI-H MSH6 MSH2 MLH1 JAK2 JAK1 CDK12 HRD HRD阴性 RAD51D RAD51C RAD51B BAP1 NTRK1 HGF MAPK1 MYCN AR NRG1 DDR2 LYN KMT2A RAD54L RAD50 KMT2D KMT2C HDAC2 FANCM FANCL FANCI FANCG FANCF CHEK1 BARD1 ARID2 AJUBA ERG MYC SRC SMO RICTOR PTCH1 PIK3R1 PIK3CB NTRK3 NTRK2 "NTRK1 " NFE2L2 KEAP1 IDH2 EZH2 CHD4 CDKN2C CDKN2B CDK6

BGI NIFTY® PRO Test Comprehensive – 84 kinds of microdeletion and microduplication syndromes including Di George Syndrome Introduction to Genetic Conditions Tested by NIFTY Trisomies A trisomy is a type of aneuploidy in which there are three chromosomes instead of the usual pair. Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are the three most commonly occurring autosomal chromosome aneuploidies in live births. These chromosomal conditions are caused by the presence of an extra copy or partial copy of chromosome 21, 18 or 13 respectively. This additional genetic material can cause dysmorphic features, congenital malformation and different degrees of intellectual disability Sex Chromosome Aneuploidies Sex chromosome aneuploidy is defined as a numeric abnormality of an X or Y chromosome, with addition or loss of an entire X or Y chromosome. Although most cases of sex chromosome aneuploidies are generally mild without intellectual disability, some have a well-established phenotype that can include physical abnormalities, learning delays and infertility Microdeletion / duplication syndromes Test overview Besides common chromosomal aneuploidies of T21, T18, T13, chromosomal microdeletion/duplication syndromes (also called chromosomal copy number variation, CNV) can also cause serious birth defects and health problems. Prevalence of these conditions are ranged from 1/4000 to 1/200,000, with fragment size from 100K to over 10M. Some of them have even a higher prevalence than Trisomy 13, such as DiGeorge syndrome, which is resulted from a small part of deletions on chromosome 22. For pregnant women under 40 years old, the probability for being affected by microdeletions is even higher than that of Down Syndrome. Conditions tested: Trisomies Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) Trisomy 9 Trisomy 16 Trisomy 22 Sex Chromosome Aneuploidies Monosomy X (Turner syndrome) XXX (Triple-X ) XXY (Klinefelter syndrome) XYY Karyotype Deletion Syndromes 5p (Cri-du-Chat syndrome) 1p36 2q33.1 Prader-Willi/ Angelman Syndrome (15q11.2) DiGeorge Syndrome II (10p14-p13) Jacobsen Syndrome (11q23) 16p12 Additional Testing Options Van der Woude Syndrome (1q32.2) Gender Identification Male/Female Test Options

PrenatalSafe Complete® Plus PrenatalSAFE® KARYO is the first non-invasive prenatal screening test able to detect aneuploidy and structural chromosomal alterations (segmental deletions and duplications) on each chromosome of the fetal karyotype reaching a level of information comparable to that obtained by invasive techniques and also tests for includes screening of 9 most common microdeletion What are fetal aneuploidies? They are chromosomal abnormalities characterized by alterations in the number of chromosomes, i.e. by a greater or lesser number of chromosomes compared to the standard number. A trisomy can be defined as the presence of an extra chromosome, while we can define monosomy as the absence of a chromosome. TRISOMY 21 This is caused by an extra copy of chromosome 21 and is also called Down syndrome. This is the most common genetic cause of intellectual disability. Individuals with Down syndrome have an average IQ of 50 and all have some degree of intellectual disability. Some children with Down syndrome have defects of the heart or other organs that may require surgery or medical treatment. Some have other medical conditions including hearing or vision loss. TRISOMY 18 This is caused by an extra copy of chromosome 18 and is also called Edwards Syndrome. This causes severe intellectual disability. Most babies with Trisomy 18 have multiple severe birth defects of the brain, heart and other organs. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Babies who survive have profound intellectual disabilities and growth and development problems. TRISOMY 13 This is caused by an extra copy of chromosome 13 and is also called Patau Syndrome. This causes severe intellectual disability. Most babies with trisomy 13 have multiple severe birth defects of the brain and other organs. Many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Sex Chromosomes Aneuploidies (X, Y) The PrenatalSafe® prenatal test also gives your healthcare provider the option to test for changes in the number of sex chromosomes. Sex chromosome aneuploidies are conditions in which there is a change from the usual 2 copies of sex chromosomes in males (XY) or females (XX). About 1 in 400 babies that are born will have a sex chromosome aneuploidy. The most common sex chromosome aneuploidies are caused by a missing sex chromosome in girls (45,X or monosomy X, also called Turner syndrome) or an extra chromosome in boys or girls (47,XXY (Klinefelter syndrome), 47,XYY, or 47,XXX). Children with a sex chromosome aneuploidy can have difficulties with language skills, motor skills, and learning, but can lead healthy and productive lives. What are Microdeletions/Microduplications? Microduplications and microdeletions are structural chromosomal abnormalities characterized by the loss (microdeletion) or the duplication (microduplication) of a small piece of chromosome material and, therefore, of the genes located on that chromosome fragment. These alterations cause syndromes of clinical importance depending on the chromosome involved, the region involved and the size of the region duplicated or lost. These types of chromosomal abnormalities are not detectable with traditional cytogenetic techniques. GeneSAFE™ Inherited screens for 5 common inherited recessive genetic disorders, such as Cystic Fibrosis, β-Thalassemia, Sickle cell anemia, Deafness autosomal recessive type 1A, Deafness autosomal recessive type 1B GeneSAFE™ de novo screens for 44 severe genetic disorders due to de novo mutations (a gene mutation that has not been inherited) in 25 genes that cause skeletal dysplasia, congenital heart defects1-3, multiple congenital malformation syndromes4,5, neurodevelopmental disorders, such as autism6,7, epilepsy8, intellectual disability9,10, and sporadic cases of various rare dominant Mendelian disorders, such as Schinzel-Giedion syndrome12, and Bohring-Opitz syndrome13. While traditional NIPT screens for conditions typically associated with advanced maternal age (e.g. Down Syndrome), GeneSAFE™ de novo screens also for genetic disorders that are associated with advanced paternal age (men that are >40 years old)14. Disorders associated with advanced paternal age typically are caused by errors (mutations) in DNA arising during spermatogenesis. As a man ages, the chance for these errors to occur substantially increases. Several genetic diseases show a stronger association advanced paternal age. For example, the risk for some genetic disorders, such as Achondroplasia, is up to 8 times higher in fathers with advanced paternal age. Other genetic diseases associated with advanced paternal age are Pfeiffer syndrome, Crouzen syndrome, Apert syndrome, thanatophoric dysplasia and Osteogenesis Imperfecta. GeneSAFE™ de novo is now the first non-invasive prenatal screen to detect disorders with an increased prevalence linked to advanced paternal age, ensuring a more comprehensive screen for a couple of advanced age. GeneSAFE™ de novo screens for conditions common across all maternal ages.