背景
标准品 |
高覆盖面 |
NIPT标准品 |
常见染色体(21,13,18)非整倍体:T21/T13/T18 |
罕见染色体非整倍体:T9/T15 |
|
性染色体(47,XX/47,XY/47,XYY等) |
|
临床常见的 CNV 类型(22q11缺失和15q缺失等) |
分类 |
名称 |
货号 |
常染色体非整倍体标准品 |
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 |
|
性染色体非整倍体标准品 |
Klinefelter Syndrome (47,XXY) Reference Standard |
CBPJ0005 |
微缺失微重复标准品 |
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 |
|
阴性对照标准品 |
Normal Karyotype (46,XY) Reference Standard |
CBPJ0004 |
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