Molecular Karyotype (aCGH)

Fast and reliable identification of invisible alterations for the conventional karyotype
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Molecular Karyotype (aCGH)

The aCGH offers a greater diagnostic efficiency

The molecular karyotype or aCGH is a powerful cytogenetic diagnostic tool that allows detection of losses and gains of genetic material. Thanks to their high resolution, the aCGH has a diagnostic yield up to 100 times bigger than the conventional karyotype, depending on the design. This increased diagnostic yield makes the aCGH a first choice diagnostic tool for patients with autism, developmental disorders, intellectual disability and multiple congenital anomalies, pathologies related to a high number of chromosomal rearrangements and CNVs.

The aCGH is a genomic test that detects losses
and gains of genetic material

Sample requirements:
Post natal: 5mL whole blood EDTA
1 RefLabCard
Purified DNA (≥ 30ng/uL in ≥ 100uL)

Prenatal:
15mL amniotic fluid or chorionic villi

Informed consent must be sent with the sample

A powerful prenatal diagnostic test

The application of aCGH in prenatal diagnosis allows fast and reliable identification of cryptic alterations for the conventional karyotype. For this reason, aCGH are also indicated as a  first choice diagnostic tool in pregnancies with a medical indication for an invasive procedure, for example when ultrasound alterations are observed. In prenatal diagnosis, aCGH are designed with a higher resolution in medically relevant regions. This permits a decrease in clinically unknown findings.

Advantages over the conventional karyotype

  • Removes subjectivity associated to the interpretation of the conventional karyotype.
  • High resolution: makes visible cryptic alterations for conventional techniques.
  • Short turnaround times.

When is aCGH indicated?

aCGHs are indicated in most patients with:

  • Autism
  • Intellectual disability
  • Developmental Disorders
  • Multiple congenital anomalies or dysmorphic features

Our aCGH for genetic diagnostics offers

  • > 200 analysed syndromes
  • High resolution along the genome and increased in syndromic regions
  • Detection of mosaicism in low percentages
  • Maximum quality, recognised with the highest score in the EMQN’ and CEQAS-UK NEQAS’ certification
  • Two plataforms available according to our customers’ needs
  • Reliable and fast results (<15 days)

Main characteristics of our aCGH platforms

We offer two molecular karyotype plataforms in order to adapt to our customers’ needs

How to order?

Check our sample requirements

Genetic Counseling Support

Ordering a test or Service from
us is simple and quick

We accept a wide range
of samples

Get pre and postanalysis
genetic counseling

How to order?

Ordering a test or Service from
us is simple and quick

Check our sample requirements

We accept a wide range
of samples

Genetic Counseling Support

Get pre and postanalysis
genetic counseling

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