Newborn

Early detection of genetic diseases that appear in the early years of life.

Newborn analysis provides information for preventive treatment, diet or early treatment of genetic diseases that appear during the early stages of life. Knowing this information is key, as 65% of diseases are treatable by diet or by an early approach, before symptoms appear.

9,4%

Up to 9.4% of newborns

may have genetic variations related to childhood-onset diseases.⁽¹⁾

100%

The test can be performed on any newborn

who has no symptoms of illness, as part of his or her medical care.

390

This analysis complements the biochemical heel prick test,

increasing the number of diseases detected to 390 and increasing clinical utility.

407

Analysis detects variants in 407 genes

related to metabolic and genetic diseases that appear in the first years of life.

_{(1) Source: Ceyhan-Birsoy, Ozge, et al. "Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project." The American Journal of Human Genetics 104.1 (2019): 76-93.}

Newborn

Accurately detects more than 390 diseases that can affect the newborn early in life
Identifies variants in 407 genes related to metabolic and genetic diseases that appear in the first years of life.
You will receive a vídeo follow-up before and after the analysis by a genetic counsellor listed by medmesafe.

Download results report

Download results report (2)

4-6 weeks

Spain

Saliva

Whole Exome Secuencing

Counting from the reception of the sample in the laboratory (Shipping costs included in Spain).

Spain

Collection of saliva.

Whole exome sequencing (WES) with illumina platform (HiSeq X10, NovaSeq 6000).
Average coverage 110x sequencing >97% at ≥20x achieving a 300x average coverage in the genes of the panel.
CLIA-certifed laboratory (CLIA #22D2089381).
CAP accreditation (College of American Pathologists).
All the reports are reviewed by an expert medical team with more than 10 years of experience in Whole Genome and Exome sequencing, including members of the Personal Genome Project of Harvard Medical School.
Possible Outcomes:
- Pathogenic variants and probably pathogenic variants are reported
- The only recessive conditions reported are those with impact on newborn health, the rest are not reported.
- Secondary findings on genes not included on the panel are not reported.

The service includes the detection of the following types of pathologies:

The highly actionable ones of appearance during childhood.
Those included in the neonatal biochemical test (heel prick test).
Those that appear in adulthood but in which it is possible to be treated during childhood.
The common ones, although they are not treatable, with a carrier frequency greater than 1/100.

Reported diseases fall into the following areas:

Neonatal genetic analysis is an alternative that increases the range of heel prick test results. The following comparative graph details the clinical application of the service in comparison to that test: