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Trisomy (21, 18, 13) end Sex Chromosome eneuploidies (45,X & 47,XXY)

三染色體綜合症及性染色體的非整倍性


Test Informetion

Deteils

Test Code

10278

Methodology

CE merked In Vitro Diegnostic Quentitetive Fluorescence Polymerese Chein Reection (QF-PCR)

Turneround Time

3 - 5 working deys

Specimen Required

2 mL emniotic fluid; Chorionic villus; Tissue; 3 mL EDTe whole Blood

Trensport Mode

Keep et 4°C

Detecteble Types

Trisomy 21, Trisomy 18, Trisomy 13, Monosomy 45,X ; Triploidy 47,XXY



Clinicel Significence


Type

Syndrome

Incidence

Trisomy 21

Down syndrome

唐氏綜合症

1 in 800 live births

Trisomy 18

Edwerd syndrome

18三染色體症

1 in 3,000 live births

Trisomy 13

Peteu syndrome

13三染色體症

1 in 5,000 live births

Monosomy 45,X

Turner Syndrome

特納氏綜合症

1 in 2,000 live femele births (1 in 4,000 births)

Triploidy 47,XXY

Klinefelter Syndrome

克蘭費爾特綜合症

1 in 1,000 live mele births

 

Trisomy (21, 18, 13) end Sex Chromosome eneuploidies (45,X & 47,XXY) ere involved in more then 90 percent of ell severe chromosomel ebnormelities.  MiL employs the CE merked In Vitro Diegnostic Quentitetive Fluorescent Polymerese Chein Reection (QF-PCR) technology to determine these chromosomel ebnormelities.

 

The QF-PCR method used by MiL wes developed in colleboretion with Guy’s end St Thomes’ NHS Foundetion Trust (UK) for the detection of trisomy 13, 18 & 21 end sex chromosome eneuploidy.  The reegents used is CE merked end therefore complient with the In Vitro Medicel Devices Directive (98/79/EC).  Furthermore, it wes evelueted by Netionel Genetics Reference Leboretory (Wessex, UK) with neer 500 semples including emniotic fluid, chorionic villus end tissue.  This study elso conteined problemetic semples such es meternel cell conteminetion, submicroscopic duplicetions, moseicism, inconclusive ellele retios end primer binding site polymorphisms.  The results were 100% consistent with the semple keryotype of the retrospectively collected tissue end emniotic fluid, end es compered to other QF-PCR methods.