>>>Array CGH- karyoNIM
Array CGH- karyoNIM2019-03-07T15:40:39+01:00

Ngs Array CGH- KaryoNIM®

Array-CGH allows the detection of alterations in the copy number (chromosomal aneuploidies, amplifications and deletions), also known as CNVs (Copy Number Variantion). This platform has an average detection capacity 10 to 50 times higher than that of conventional karyotyping, depending on the design. It thus constitutes the genomic tool of choice in multiple situations of prenatal and constitutional genetic diagnosis.

NIMGenetics has developed different designs of KaryoNIM®, in order to provide tools adapted to the different clinical pictures. All of our designs, which are clinically oriented, have a higher diagnostic yield than commercial platforms due to their higher resolution in the syndromic regions.

KaryoNIM® Prenatal

Array-CGH aimed at detecting gains and losses of genomic and chromosomal regions responsible for up to 124 genetic syndromes associated with intellectual disability and congenital alterations. Its potent design, specifically aimed at prenatal diagnosis, decreases the diagnostic complexity and improves the resolution of conventional karyotypes up to 50 times in the critical regions of the syndromes studied.

NIMGenetics has the accreditation ISO15189 for the study of array-CGH since June 2015, being the first laboratory in Spain to demonstrate compliance with this standard, which accredits and demonstrates in an objective and independent manner the commitment of a laboratory with quality and with the technical competence (accreditation number ENAC 1212/LE2336).

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

When is it recommended?*

At the very least, in the following situations:

  • In cases of nonspecific ultrasound fetal anomaly, such as a high nuchal translucency, in which the presence of chromosomal aneuploidies or complete triploidy has been ruled out.
  • In the presence of an echographic finding or a history suggestive of a specific genetic disorder or syndrome, characterized by the presence of deletions or duplications (within the sensitivity range of the technique).
  • If there is an echographic suspicion of congenital heart disease, once the presence of chromosomal aneuploidies or complete triploidy has been ruled out.
 (*): Recommendations from AEDP for the use el of microarrays (Suela J et al. Med Clin (Barc). 2017;148(7):328.e1–328.e8)
Delivery of results: 3–5 working days from receipt of the sample.
Reference: REP1002

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KaryoNIM® Postnatal 60K

Array-CGH directed to the study of polymalformative syndromes, with or without intellectual disability.

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

KaryoNIM® Postnatal 60k forms part of the comprehensive approach that NIMGenetics has developed for the genetic diagnosis of neurodevelopmental disorders and epilepsy: NIMIntegra Neuropediatrics.

Reference: CGH1001
Delivery of results: 15 working days from receipt of the sample.

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KaryoNIM® Postnatal 180K

Array-CGH directed to the study of neurodevelopmental disorders and polymalformative syndromes.

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

KaryoNIM® Postnatal 180k forms part of the comprehensive approach that NIMGenetics has developed for the genetic diagnosis of neurodevelopmental disorders and epilepsy: NIMIntegra Neuropediatrics.

Reference: CGH1003
Delivery of results: 20 working days from receipt of the sample.

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KaryoNIM® Postnatal 180K Autism

Array CGH designed specifically for the study of autistic spectrum disorder (ASD). Based on KaryoNIM Postnatal 180k, this design is aimed at the study of neurodevelopmental disorders and polymalformative syndromes, with a potent increase in detection capacity (15 kb) in 140 genes associated with ASD.

Analyzes with high resolution 308 OMIM syndromes and other genetic regions responsible for various pathologies. with an average resolution of 75 kb in these regions. It offers a minimum resolution of 75 kb in syndromic regions, which increases to 40 kb in those genes associated with polymalformative syndromes and 15 kb in genes linked to ASD.

KaryoNIM® Postnatal 180k Autism forms part of the comprehensive approach that NIMGenetics has developed for the genetic diagnosis of neurodevelopmental disorders and epilepsy: NIMIntegra Neuropediatrics.

Reference: CGH1005
Delivery of results: 20 working days from receipt of the sample.

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KaryoNIM® Postnatal 400K

Array-CGH for the diagnosis of neuropediatric patients in those cases that require high resolution studies.

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

KaryoNIM® Postnatal 400k forms part of the comprehensive approach that NIMGenetics has developed for the genetic diagnosis of neurodevelopmental disorders and epilepsy: NIMIntegra Neuropediatrics.

Reference: CGH1001
Delivery of results: 15 días laborables desde la recepción de la muestra.

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