CombiGene

Prenatal and Postnatal Microarray Analysis

The comfort of knowledge

PROCREA Cliniques’ Genetic Microarray Analysis CombiGene^® offers physicians, couples with family history of genetic anomalies as well as pregnant women, whose prenatal screening or prenatal ultrasound indicate a high risk of carrying a baby with Down’s syndrome or other genetic diseases, the ability to diagnose with high accuracy important disabilities of genetic origin.

CombiGene^® utilizes the latest technological advancements and shows an unprecedented high level of resolution allowing the detection of very small genetic modifications not detected by previous technologies. 

CombiGene^® has the ability to detect simultaneously over
150 anomalies that are not detected by conventional techniques including the following syndromes and conditions:

• Angelman
• DiGeorge
• Miller-Diecker
• Prader-Willi
• Smith-Magenis
• Williams
• Telomere deletion
• Uniparental disomy (UPD)*

* UPD syndromes such as Prader-Willi are not detected by standard cytogenetics,  comparative genomic hybridization (Array-CGH), fluorescence in situ hybridization (FISH) or quantitative enriched real-time PCR (QEPCR).

CombiGene^® versus conventional amniocentesis

A common belief of women being screened for prenatal diseases through prenatal screening tests or amniocentesis (karyotype) is that these tests include all genetic diseases. Unfortunately these tests only screen for a few specific diseases and the additional tests necessary to target these disorders are only indicated under very specific conditions.

CombiGene^®  provides a precise, highly accurate, cost effective result far exceeding the results obtained by conventional chromosomal analysis.

The technology of CombiGene^®

This new technology was designed to look at the chromosomes in a more detailed approach. The gain or loss of genetic material at any site of the 46 chromosomes can lead to genetic diseases with significant mental or physical disabilities. 

CombiGene’s^® advanced technology enables our laboratory specialists to achieve with confidence the highest diagnostic quality by comparing millions of DNA fragments distributed across the entire genome against the genetic material of the patient. This new analytical method precisely identifies very small genomic discrepancies as well as the genes associated with these discrepancies.

Principle of CombiGene’s^® technology

Fluorescent tagged patients’ DNA hybridizes to the DNA fragments of CombiGene^®. Patient’s DNA that is not recognized (non-hybridized) by the test is washed away.

Shining a laser light over the microarray will cause only the fluorescent tagged fragments to glow identifying the DNA areas. Light emitted is quantified by a scanner.

When is CombiGene^® used?

Prenatal diagnosis

• Abnormal prenatal screening results
• Advanced maternal age
• A family history of:
  • Chromosome abnormalities
  • Risk of a known genetic anomaly or mental retardation
  • Known inherited disorders
• Abnormal fetal ultrasound signs:
  • Cardiac anomalies
  • Echogenic cardiac foci
  • Growth development delays

Postnatal diagnosis

• Ambiguous genitalia
• Birth defects
• Dysmorphic features
• Chromosome abnormalities (deletion, duplication)
• Mental retardation of unknown etiology
• Primary  amenorrhea
• Male or female infertility
• Growth development delays

The clinical laboratory of PROCREA Cliniques is one of the few institutions having access to an advanced technology that permits the detection of a vast array of diseases. We offer you the service based on the latest technologies in genetic testing. At PROCREA Cliniques our laboratory professionals and our genetic counselors will provide you, patient and physician, with a detailed diagnosis and crucial information on the results obtained.