診斷試劑
diagnosis
背景
標準品 |
高覆蓋面 |
NIPT標準品 |
常見染色體(21,13,18)非整倍體:T21/T13/T18 |
罕見染色體非整倍體:T9/T15 |
|
性染色體(47,XX/47,XY/47,XYY等) |
|
臨床常見的 CNV 類型(22q11缺失和15q缺失等) |
分類 |
名稱 |
貨號 |
常染色體非整倍體標準品 |
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 |
|
性染色體非整倍體標準品 |
Klinefelter Syndrome (47,XXY) Reference Standard |
CBPJ0005 |
微缺失微重復(fù)標準品 |
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 |
|
陰性對照標準品 |
Normal Karyotype (46,XY) Reference Standard |
CBPJ0004 |
掃二維碼