Biomarker

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.