CGT: Carrier Genetic Test

CGT
Test Options
Indications
Test Limitations

What is CGT

CGT is an advanced carrier genetic test, which determines whether a couple are carriers of genetic mutations that could be transmitted to their children.

CGT uses Next-Generation Sequencing (NGS) to analyse a wide panel of disorders including as Cystic Fibrosis, Spinal Muscular Atrophy, Fragile-X Syndrome.

What CGT test options are available?

CGT BANK

Carrier screening for donor gametes. Analysis of 7 autosomal recessive genes in sperm donors and an additional 64 X-linked genes in egg donors.

CGT PLUS

Uses NGS to analyse 519 genes associated with severe monogenic disease. CGT PLUS provides very high coverage of likely pathogenic and pathogenic mutations.

CGT EXOME

Analysis of over 2,000 genes linked to autosomal recessive and X-linked conditions. CGT EXOME is our largest carrier screen.

CGT SYNC

CGT SYNC is our unique solution when one person in a reproductive couple is a known carrier of a condition – e.g. a gamete donor is known to be a carrier. CGT SYNC provides bespoke analysis of these ‘genes of interest’ using our highest detection rate platform. Optional analysis of X-linked genes is available for female patients.

Who is CGT for?

Couples who plan on forming a family and want to know the risk of transmitting hereditary disorders to their children
Patients planning an assisted reproduction treatment
Patients planning a treatment with donor sperm or eggs

Most carriers of genetic mutations don’t have a family history of these disorders.

Why CGT?

Is a clinically validated genetic screening test based on Next-Generation Sequencing (NGS).
Our different CGT options, tailored to each patient’s needs, make it the most complete test available.

Test limitations

The sensitivity of the test is 98%.
We only analyse genes on the list available here, reporting results based on knowledge current at the time of testing. Therefore, only genes included in this list will be detected.
The method is based on analysis by massive parallel sequencing and bioinformatics, studying all the exons of the genes included on our gene list. This includes adjacent intronic regions before or after position +5 and -5. Variants located outside the gene regions studied, such as gene-expression regulatory regions or intronic regions before or after position +5 and -5 are not detected.
No inversions, deletions, or duplications over 20 nucleotides long that are not referred to in the list available here are studied.
Germ mosaics (mutations only present in gametes) are not detected by this analysis because the DNA material studied is obtained from a blood sample.
A negative result for the genes indicated does not exclude the possibility that a de novo mutation may appear in the offspring.

Documentation

Authors: Martin J, Asan, Yi Y, Alberola T, Rodríguez-Iglesias B, Jiménez-Almazán J, Li Q, Du H, Alama P, Ruiz A, Bosch E, Garrido N, Simon C

Publication: Fertil Steril. 2015 Nov;104(5):1286-93. doi: 10.1016/j.fertnstert.2015.07.1166. Epub 2015 Sep 3.

PMID: 26354092

Title: The relevance of preconceptional carrier screening (PCS) and genetic matching of donated oocytes and sperm on livebirth rates. retrospective analysis of 1934 consecutive embryo transfers.

Authors: Egea R, Bosch E, Alamá P, Martín J, Gimenez J, Garrido N

Publication: Fertility and Sterility. 106. e329-e330. doi: 10.1016/j.fertnstert.2016.07.932.

Title: Prediction of mendelian disorders risk in assisted reproductive technology patients of middle eastern ethnicity based on detection of germline variants using an expanded preconception carrier genetic screening test

Authors:Martin J, Fatemi H, Rodriguez-Iglesias B, Alonso R, Jimenez J, Simon C

Publication: RBMO Vol.36, Supplement 1, E10, Mar 01,2018 doi: 10.1016/j.rbmo.2017.10.025.

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