Question 1

What Biomarkers does ColoAlert test for?

Accepted Answer

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.

Question 2

What Biomarkers does SENTIS™ Comprehensive Hereditary Cancer Panel test for?

Accepted Answer

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

Question 3

What Biomarkers does SENTIS™ Breast & Ovarian test for?

Accepted Answer

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

Question 4

What Biomarkers does SENTIS™ Hereditary Colorectal Cancer

Accepted Answer

SENTIS™ Hereditary Colorectal Cancer

APC, AXIN2, EPCAM, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, STK11, PTEN,

Question 5

What Biomarkers does SENTIS™  Hereditary Prostate Cancer

Accepted Answer

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

Question 6

What Biomarkers does SENTIS™ Hereditary Pancreatic Cancer

Accepted Answer

SENTIS™ Hereditary Pancreatic Cancer

BRCA2, PALB2, BRCA1, MLH1, MSH2, MSH6, PMS2, PRSS1, SPINK1, ATM, CDKN2A,FANCG

Question 7

What Biomarkers does SENTIS™  HPV Test

Accepted Answer

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.

Question 8

What Biomarkers does SENTIS™ Lung Cancer Panel(ctDNA)

Accepted Answer

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

Question 9

What Biomarkers does BGI SENTIS™ Cancer + Discovery (ctDNA)

Accepted Answer

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

Question 10

What Biomarkers does BGI NIFTY® PRO Test

Accepted Answer

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

Question 11

What Biomarkers does PrenatalSafe Complete® Plus

Accepted Answer

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.

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Biomarkers Tested

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