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NIPT Reference Standard


Background

In the field of eugenics, advances in prenatal testing technology have brought hope and peace of mind to countless families. Among them, non-invasive prenatal testing (NIPT), as a revolutionary technology, has quickly become the preferred method for prenatal screening due to its high accuracy, safety and convenience. Before the advent of NIPT, prenatal testing mainly relied on invasive testing methods such as amniocentesis and chorionic villus sampling (CVS). Although these methods are highly accurate, they have certain risks. In order to overcome these limitations, scientists began to explore a safer and more convenient testing method. In 1997, scientists discovered the presence of fetal free DNA (cfDNA) in the peripheral blood of pregnant women, which laid the foundation for non-invasive prenatal testing. In 2011, NIPT was first used in clinical practice, marking the beginning of a new era for prenatal testing.

Introduction

    In the process of testing, quality control products and reference products are indispensable. For NIPT testing, CB-Gene has launched chromosome aneuploidy reference products and quality control products, including autosomes and sex chromosomes, as well as microdeletion and microduplication quality control products and reference products. In the future, chimera reference products will be launched one after another.


Classification

Product Name

Cat. No.

Autosomal Aneuploidy Reference Standard

Trisomy 21(47,XX,+21) Reference Standard

CBPJ0001

Trisomy 18(47,XX,+18) Reference Standard

CBPJ0002

Trisomy 21 (47,XY,+21) Reference Standard

CBPJ0009

Trisomy 13 (47,XY,+13) Reference Standard

CBPJ0010

Trisomy 9 (47,XY,+9) Reference Standard

CBPJ0014

Trisomy 21 (47,XY,+21) Reference Standard-2

CBPJ0016

Sex Chromosome Aneuploidy Reference Standard

Klinefelter Syndrome (47,XXY) Reference Standard

CBPJ0005

Microdeletion and Microduplication Reference Standard

Trisomy 9 (47,XY,+9,del(9)(q11)) Reference Standard

CBPJ0003

Angelman syndrome (46,XX,del(15)(q11q13)) Reference Standard

CBPJ0006

Prader-Willi syndrome (46,XY,del(15)(q11.2q13)) Reference Standard

CBPJ0007

18P-syndrome (46,XX,del(18)(p11.2)) Reference Standard

CBPJ0008

DiGeorge syndrome (46,XX,del(22)(q11)) Reference Standard

CBPJ0011

18Q-syndrome (46,XX,del(18)(q22)) Reference Standard

CBPJ0013

11q23.3 del (46,XX,del(11)(q23.3)) Reference Standard

CBPJ0015

Angelman syndrome (46,XY,del(15)(q11.2q13.1)) Reference Standard

CBPJ0017

Prader-Willi syndrome (46,XY,del(15)(q11.2q13.1)) Reference Standard

CBPJ0018

Negative Control Standard

Normal Karyotype (46,XY) Reference Standard

CBPJ0004

Normal Karyotype (46,XX) Reference StandardCBPJ0024

Paired samples

10%-Trisomy 21 male-Matched, cfDNA Reference Standard

CBPJ0019-1

5%-Trisomy 21 male-Matched, cfDNA Reference Standard CBPJ0019-2

3.5%-Trisomy 21 male-Matched, cfDNA Reference Standard

CBPJ0019-3

10%-18Q-syndrome Female-Matched, cfDNA Reference StandardCBPJ0020-1

5%-18Q-syndrome Female-Matched, cfDNA Reference Standard

CBPJ0020-2

3.5%-18Q-syndrome Female-Matched, cfDNA Reference StandardCBPJ0020-3

10%-ANGELMAN SYNDROME male-Matched, cfDNA Reference Standard

CBPJ0021-1

5%-ANGELMAN SYNDROME male-Matched, cfDNA Reference StandardCBPJ0021-2

3.5%-ANGELMAN SYNDROME male-Matched, cfDNA Reference Standard

CBPJ0021-3

10%-PRADER-WILLI SYNDROMEl male-Matched, cfDNA Reference StandardCBPJ0022-1

5%-PRADER-WILLI SYNDROMEl male-Matched, cfDNA Reference Standard

CBPJ0022-2

3.5%-PRADER-WILLI SYNDROMEl male-Matched, cfDNA Reference StandardCBPJ0022-3

10%-Normal Karyotype Male-Matched, cfDNA Reference Standard

CBPJ0023-1

5%-Normal Karyotype Male-Matched, cfDNA Reference StandardCBPJ0023-2

3.5%-Normal Karyotype Male-Matched, cfDNA Reference Standard

CBPJ0023-3

 

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