Array CGH-KaryoNIM®


The Array CGH detects copy number alterations (chromosome aneuploidies, amplifications and deletions), also called CNVs (copy number variations).

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This platform has an average detection capacity of 10 to 50 times higher than conventional karyotyping, depending on the design. It is therefore the genomic tool of choice in many situations of prenatal and constitutional genetic testing.

NIMGenetics has developed different KaryoNIM® designs, in order to provide tools adapted to different clinical pictures. Due to their higher resolution in syndromic regions, all our clinically oriented designs have a more successful diagnostic yield than commercial platforms.

KaryoNIM® Prenatal

Array CGH designed to detect the loss and gain of genome and chromosome regions responsible for up to 124 genetic syndromes associated with intellectual disability and congenital disorders. Specifically aimed at prenatal diagnosis, its powerful design reduces diagnostic complexity and improves the resolution of conventional karyotyping by up to 50 times in the critical regions of the syndromes being tested.

NIMGenetics offers QF-PCR (Quantitative Fluorescence Polymerase Chain Reaction) as a complementary test to KaryoNIM® Prenatal, to rule out the presence of complete triploidy.

When is it recommended?*
At least in the following situations:

  • In cases with a non-specific fetal ultrasound abnormality, such as elevated nuchal translucency, where the presence of chromosome aneuploidies or complete triploidy has been ruled out.
  • In cases with an ultrasound finding or patient history suggestive of a specific genetic alteration or syndrome, characterised by the presence of deletions or duplications (within the sensitivity range of the technique).
  • In cases with suspected congenital heart disease detected by ultrasound once the presence of chromosome aneuploidies or complete triploidy has been ruled out.

 

(*): AEDP recommendations for the use of microarrays (Suela J et al. Med Clin (Barc). 2017; 148(7):328.e1–328.e8)

Turnaround time: 3 -5 working days from receipt of the sample.
Reference: PRE3001

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

NIMGenetics offers specialists QF-PCR (Quantitative Fluorescence Polymerase Chain Reaction) technology to test prenatal samples.

When is it indicated in prenatal samples?

  • For detecting trisomy 21 (Down’s syndrome), 18 (Edwards’ syndrome) and 13 (Patau syndrome), and the most frequent sex chromosome aneuploidies (such as Turner or Klinefelter syndromes).
  • To rule out the presence of triploidy in prenatal samples where a prenatal array CGH is requested.
  • To rule out maternal cell contamination in chorionic villus sampling:
    • CWhen the foetus is female and shows no chromosomal abnormalities following an array CGH test (or conventional karyotyping).
    • In cases of suspected contamination when taking the sample.

KARYONIM® POSTNATAL 60K

Array CGH designed to test for multiple malformation syndromes, with or without intellectual disability.

It analyses 308 OMIM syndromes, together with other genetic regions responsible for various disorders. It offers a minimum resolution of 100kb in syndromic regions and 50kb in critical genes. The rest of the genome is analysed with an average resolution of 350kb.

NIMGenetics has been ISO15189 accredited for array CGH testing since June 2015. We were the first laboratory in Spain to show compliance with this standard for the Postnatal 60k array CGH, objectively and independently accrediting and demonstrating our laboratory's commitment to quality and technical competence (ENAC accreditation number 1212/LE2336).

KaryoNIM® Postnatal 60k is part of NIMGenetics’ comprehensive genetic testing approach for neurodevelopmental disorders and epilepsy: NIMIntegra® Neuropediatría.

Turnaround time: 15 working days from receipt of the sample.
Reference:  CGH1001

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

KARYONIM® POSTNATAL 180K

Array CGH designed to test for neurodevelopmental disorders and multiple malformation syndromes.

It analyses 308 OMIM syndromes, together with other genetic regions responsible for various disorders. It offers a minimum resolution of 75kb in syndromic regions and 40kb in critical genes. The rest of the genome is analysed with an average resolution of 350kb.

KaryoNIM® Postnatal is part of NIMGenetics’ comprehensive genetic testing approach for neurodevelopmental disorders and epilepsy: NIMIntegra® Neuropediatría.

Turnaround time 20 working days from receipt of the sample.
Reference: CGH1003

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

KARYONIM® POSTNATAL 180K AUTISM

Array CGH specifically designed to test for autism spectrum disorder (ASD). Based on KaryoNIM Postnatal 180K, this design is aimed at testing for neurodevelopmental disorders and multiple malformation syndromes, with a powerful increase in detection capacity (15kb) in 140 genes associated with ASD.

It provides a high-resolution analysis of 308 OMIM syndromes and other genetic regions responsible for this disorder, with an average resolution of 75kb in these regions.

It analyses 308 OMIM syndromes, together with other genetic regions responsible for various disorders. It offers a minimum resolution of 75kb in syndromic regions, which increases to 40kb in genes associated with multiple malformation syndromes and to 15kb in genes linked to ASD.

KaryoNIM® Postnatal is part of NIMGenetics’ comprehensive genetic testing approach for neurodevelopmental disorders and epilepsy: NIMIntegra® Neuropediatría.

Turnaround time: 20 working days from receipt of the sample.
Reference: CGH1005

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

KARYONIM® POSTNATAL 400K

Array CGH for diagnosing paediatric neurology patients in cases requiring high-resolution tests.

It analyses the entire genome with an average detection capacity of 25kb, more than 100 times the resolution of conventional karyotyping.

KaryoNIM® Postnatal is part of NIMGenetics’ comprehensive genetic testing approach for neurodevelopmental disorders and epilepsy: NIMIntegra® Neuropediatría.

Turnaround time: 15 working days from receipt of the sample.
Reference: CGH1007

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

KARYONIM® STEM CELLS

Array CGH designed by NIMGenetics to monitor the stability of cells in culture, which detects CNVs and aneuploidies in the whole genome.

It provides a high-resolution analysis of 407 genes associated with genome instability, with up to 20 times the detection capacity of conventional karyotyping. Furthermore, as it works with DNA, it does not require cells in the metaphase cycle.

KARYONIM® STR

QF-PCR platform to characterise the identity of therapeutic cells using Short Tandem Repeat (STR) analysis.

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