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ChromoQuant Optima XY


ChromoQuant® Optima XY is a single tube QF-PCR kit for analysing aneuploidy in chromosomes X and Y, including Klinefelter and Turner X0 syndroms.

The test can be used for verification of uninformative results with previous tests or for verification and diagnosis of positive indications from NIPT screening.

·   Single tube test – all markers analysed in one PCR reaction.

·   13 markers in total for Chr. X and Y

·   Taq polymerase included, ready to use

·   The diagnostic procedure is based upon amniocentesis if used for prenatal diagnosis. Results are achieved within 6 hours enabling a "time to reply" of less than 24 hours

·   The test can be used in combination with the ChromoQuant AZF kit in order to diagnose Klinefelter syndrome.

·   The test has been clinically validated for In Vitro Diagnostics and is CE marked

·   The ChromoQuant® kit is validated for ABI sequencers

·   Data evaluation is facilitated by the proprietary ChromoQuant® Visualizer decision support software, licensed to all users

   ·   Templates and panels for ABI´s GeneMapper and SoftGenetics´ GeneMarker are available for         download.

 ·   Detection of maternal contamination eliminate risk of misdiagnosis


ChromoQuant® is CE marked for IVD use and produced according to ISO13485

For more information download product sheet or contact

Product information

Intended Use

In vitro diagnostics for diagnosis of aneuploidy in chromosomes 13, 18, 21 and X/Y

Product no.


No. of  markers

Single tube PCR containing 13 markers

Chromosome X: 6 markers

ChromosomeY: 2 markers

Chromosome X and Y: 4 markers

Turner X0 verifying TAF9B: 1 marker

DNA source

Blood, saliva, mouth swab, amniotic fluid, CVS

Taq polymerase included Yes
No. of reactions per patient 1
CE-labelled for IVD use Yes
Detection format Capillary electrophoresis

Validated Genetic Analysers

ABI310, 3100, 3130, 3730, 3500
Data Interpretation

GeneMapper and GeneMarker templates and panels are available.

Visualizer decision support software free of charge










CyberGene AB, Banvaktsvägen 22, 171 48 Solna, Sweden. 
CyberGene® and ChromoQuant® are registered trademarks of CyberGene AB

Since June 2021, CyberGene is a subsiduary of AlphaHelix Molecular Diagnostics AB