- Severe Combined Immunodeciency Syndrome (SCID)
- Biotinidase Deficiency (BIOT)
- Galactosemia (GALT)
- Cystic Fibrosis (CF)
- Deficiency of Galactose 4-Epimerase (GALE)
- Galactokinase Deficiency (GALK)
- Pompe disease (GSD II)
- Fabry disease
- Gaucher disease
- Krabbe disease
- Mucopolysaccharidosis type 1 (MPS I)
- Niemann-Pick disease
- Type A
- Type B
- Type C1
- Type C2
- NEW! Deciencia of Methylmalonil CoA epimerase
- NEW! Adrenoleukodystrophy (ALD)
- NEW! Deafness Congenital Non Syndromic
- NEW! Other genes associated with SCID
How the analysis performed?
The analysis is done from a few drops of blood taken from the umbilical cord at birth or later through a heelstick. This blood sample containing baby’s DNA is sent to the laboratory BabyGenesTM in Colorado, USA, where the study was performed.
The test is safe and presents no risk to your baby. The sample can even take up the first year of life. The results are reported within 10 working days after sampling.
How is the analysis different of others?
Routine neonatal screenings performed since 1960 are based on the quest of metabolic waste in the baby’s blood and have a certain percentage of falsepositives and false negatives. Also they require a confirmatory test. BabyGenes ™ , using the latest technology in genetic sequencing, is able to go directly to the source of the disease found in genes and thus makes a clear, rádido and accurate diagnosis. In addition, this analysis identifies whether the child and potentially your family are healthy carriers of any of these mutations. A healthy carrier is a person who has one mutated gene while the other gene is not affected, so it does not manifest the disease. Knowing the presence of this mutation is a valuable asset because with the proper genetic counseling is possible to prevent occurrence of these diseases in the future new members of the family.