Multiplex QF-PCR Detection for
Rapid Diagnosis of Trisomy 21 ,18,13 &
Sex Chromosome Aneuploidies


Product Overview:

  • Contains 36 markers that amplify selected STRs & the gender determining sequences Amelogenin-SRY.
  • Two multiplex QF-PCR amplifications of 21 markers (Sl and S2)
  • Single electrophoresis analysis to increase sample throughput
  • Inclusion of 4 chromosome specific extra markers sets (M21, M13, M18 & MXY) which allows definitive results in 100% of cases

Main Features:
  • Manufactured to ISO 9001:2000; 13485:20A3
  • IVD/CE Conformity to directive 98/79/CF
  • Sample to result in less than 3 hours.
  • Tested on 43,000 Clinical samples denoting its diagnostic accuracy
  • Only product on the market with 4 pseudoautosomal markers for XY and mosaic aneuploidy cases
    (See Protocol for complete list of case examples)

Samples-
  • Amniotic Fluids, Chorionic Villus, Fetal blood, Neonatal & Adult blood/tissues


 

S1S2MXYM21M18M13
AMXYSRYSRYD21S1411D18S386D13S631
DXYS267X22AMXYD21S1435D18S391D13S634
D21S1414DXYS218HPRTD21S1437*D18S858*D13S742*
D21S1446HPRTTAF9L*D21S1412*D18S499*D13S628*
D21S1442D21S1411DXYS156*D21S1809*D18S1002* 
D18S535D21S1435DXS6803*   
D18S391D13S634DXS6809*   
D18S976D13S258DXS8377*   
D13S797D18S386DXS981*   
D13S631D18S390DXS1187*   
D13S305    

 

The two Multiplexes QF-PCR Sets S1 and S2 allow simultaneous analysis of five STRs on each of the autosomes 21, 18 and 13 in addition to three pseudoautosomal (DXYS267, X22 and DXYS218) and one X-linked STRs. Two non-polymorphic sequences, Amelogenin (AMXY) and SRY, are independently amplified for sexing.


Chromosome-specific back-up marker sets are also available. MXY contains seven STRs and two sexing markers on the sex chromosomes. In addition, the paralogous sequence TAF9L on chromosome 3 and X allow accurate assessment of chromosome X dosage in all cases independently from frequency calculation (see further below). M21, M13 and M18 contain five STRs on each of chromosomes 21 and 18, and four markers on chromosome 13. The back-up sets may be used either independently or in cases where all the S1 and S2 markers on any one of these chromosomes have been found to be uninformative (homozygous).

Extra markers not included in S1 and S2 are labelled*. Note that in each chromosome-specific set two markers amplified in S1 and S2 are repeated. This provides an opportunity to confirm sample identity. Any discrepant results with respect to these markers, shared in common between the S1/S2 and the chromosome-specific back-up marker sets, should be a matter of concern. The chromosome-specific back-up sets may also be used to confirm any abnormal results.


  • Detection of Normal Chromosome complement
    • Normal XX female sex chromosome constitution
    • Normal XY male sex chromosome constitution

  • Detection of Autosomal Trisomies and Triploidy
    • Detection of Trisomy 21
    • Detection of Trisomy 18
    • Detection of Trisomy 13
    • Detection of Triploidy (69,XXX or 69,XXY)

  • Aneufast™ Chromosome - Specific back-up marker sets
    • Specific Back-up marker set M21, M18 & M13 for detection of Trisomy 21, 18, & 13 resp.

  • Detection of Sex Chromosome Aneuploidies
    • Detection of X monosomy
    • Detection of the XXY sex chromosome constitution
    • Detection of Trisomy X
    • Detection of the XYY sex chromosome constitution

  • Aneufast™ MXY Chromosome-Specific back-up marker set
    • Detection of X chromosome aneuploidies by QF-PCR analysis of TAF9L
      • Detection of the 45,X: Turner Syndrome
      • Detection of the XXY : Klinefelter Syndrome
      • Detection of the XXX sex chromosome constitution

Aneufast Analysis Trouble Shooting Guide


Ordering Information

Pack Size Catalog No.
25 testsmlg.anf.25
50 testsmlg.anf.50
100 testsmlg.anf.100