Why it´s important to make the analysis BabyGenes™?

This analysis includes all diseases currently carried in the newborns in the United States and Europe. In total more than 70 pathologies are studied according to the recommendation of the American College of Medical Genetics (ACGM). Preventing conditions that can cause serious illness, intellectual disability and even death.

The importance of early detection

Much of diseases detected through BabyGenes ™ do not have visible symptoms until damage has already occurred in the body. Early diagnosis plays a key role in the evolution of these diseases. Early medical treatment can allow your child to have a normal life, or minimize the consequences of the disease.

What is BabyGenes™?

BabyGenes™ is the first genetic analysis of newborn by NGSNext Generation Sequencing. This technology makes it possible to analyze 92 genes associated with different disease from a single drop of blood obtained at the time of birth. These disorders if are identified and treated early, allow the healthy development of your baby or a better quality of life.

What diseases does this analysis?

Through specific sequencing of 92 genes, BabyGenes ™ identifies mutations associated with metabolic disorders and mutations associated with hereditary diseases. The diseases included in this analysis can be classified into the following groups:

• METABOLIC:
  Linked to chemical reactions in the body to create energy and build tissue.
• ENDOCRINES:
  Related to hormones that affect body functions
• HEMOGLOBINS:
  Regarding the red blood cells that oxygenate the blood
• OTHER GENETIC DISORDERS:
  Such as cystic fibrosis or congenital Deafness

Description of some of the disorders detected by BabyGenes™

• Deficiency of 3hydroxy2MetilbutirilCoA dehydrogenase (2M3HBA)
• Deficiency of 2Methylbutyryl CoA Dehydrogenase (2MBG)
• Deficiency of 3hydroxy3Metilglutaril lyase (HMG)
• Deficiency of 3methylcrotonylCoA carboxylase (3MCC)
• Deficiency of 3methylglutaconylCoA hydratase (3MGA)
• Deficiency of Betaketothiolase efciency (KT)
• Glutaric acidemia type 1 (GA I)
• Deficiency of Holocarboxylase synthetase (MCD)
• Deficiency of IsobutyrylCoA dehydrogenase (IBG)
• Isovaleric acidemia
• Malonic acidemia
• Methylmalonic acidemias:
• Deficiency of MethylmalonylCoA mutase
• Deficiency of Adenosylcobalamin
• Combined deficiency of Methylmalonyl
• Propionic acidemia

Disorders of Fatty Acid Oxidation

• Deficiency of 2.4 DienoylCoA Reductase
• Deficiency of Carnitine Acelcarnitina Translocase
• Deficiency of Carnitine palmitoyl transferase Type 1 (CPTI) and 2 (CPTII)
• Deficiency of Carnitine Primary (CUD)
• Glutaric acidemia type 2 (GA II)
• Deficiency of the long chain of L3hydroxy acylCoA dehydrogenase (LCHAD)
• Deficiency of mediumchain acylCoA dehydrogenase (MCAD)
• Deficiency middle / short chain L3hydroxy acyl CoA dehydrogenase (M / SCHAD)
• Deficiency of short chain acylCoA dehydrogenase (SCAD)
• Deficiency of Mitochondrial trifunctional protein (TFP)
• Deficiency of the very long chain acylCoA dehydrogenase (VLCAD)

Disorders of Amino Acids

• Arginemia
• Arginosuccinica aciduria (ASA Deciencia Liasa)
• Phenylketonuria (PKU)
• Classical PKU
• Hyperphenylalaninaemia
• Deficiency of Cofactor Biopterin
• Citrullinemia type 1 (CITI) and 2(CITII)
• Citrulinemia type2 (CIT-II)
• Hipermetionimenia
• Disease maple syrup urine (MSUD)
• Tyrosinemia type 1 (TYR I)
• Tyrosinemia type 2 (TYR II)
• Tyrosinemia type 3 (TYR III)
• Transient neonatal tyrosinemia
• Hyperammonemia

Endocrine Conditions hemoglobins

• Congenital Adrenal Hyperplasia
• Deficiency of 21hydroxylase saltwasting
• Deficiency of 21hydroxylase with single virilization
• Congenital hypothyroidism
• Hemoglobin S/Beta Thalassemia Disease
• Sickle Cell or Hemoglobin S Disease
• Hemoglobin S/C Disease
• Other hemoglobins diseases

Other conditions:

• 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.