Genetic Testing for Newborns

At BION Genetic Laboratory, we offer Genetic Testing for Newborns which identifies DNA changes that could cause severe or life-altering symptoms in an infant. This analysis includes 255 genes and assesses over 200 disorders, covering many conditions beyond state-legislated standards for newborn screening. This test only tests for early-onset conditions where early detection, intervention, and management could prove essential for the infant’s overall health and quality of life.

Potential Benefits

Clear and Actionable Results

Clear and concise reporting of diagnostic results that are medically actionable. Early diagnosis and intervention can make the difference on a child’s health and quality of life.

Expanded Coverage of Conditions

Standard newborn screening varies state by state and is limited to mostly biochemical metabolic diseases. Go beyond the standard.

Simplified

Results are provided directly to your pediatrician or provider with clear follow-up recommendations. This test can reduce complex follow-up testing or “diagnostic odyssey” for affected infants.

Rate of consanguinity marriage in some countries (same Oman) is higher than others. So, it can increase the incidence of inborn error of metabolic disorders in the mentioned countries.
This test helps your doctor to find some of them before any symptoms and signs of disorder in the newborn and your baby.  
Bion medical genetic laboratory can help you to do this test.

Enzymes and Biomarkers Test for New-born

At BION Genetic Laboratory, we offer Enzymes and Biomarkers Tests for New-born as complementary to genetic testing, as A genetic test alone may not be able to provide the information needed for a final diagnosis.

  1. Enzyme assays use for detection of these disorders

    1. Oligosaccharidosis and Sphingolipidoses

      • Wolman disease (Acid lipase)
      • Pompe disease (Alpha-glucosidase)
      • Fucosidosis (Alpha-fucosidase)
      • Fabry disease (Alpha-galactosidase)
      • Alpha-mannosidosis (Alpha-mannosidase)
      • Schindler/Kanzaki disease (Alpha-N-acetylgalactosaminidase)
      • Gaucher disease (Beta-glucocerebrosidase)
      • Tay-Sachs disease (Beta-hexosaminidase)
      • Beta-mannosidosis (Beta-mannosidase)
      • Sandhoff disease (Total-hexosaminidase)

    2. Neuronal Ceroid Lipofuscinosis

      • Santavuori-Haltia disease (Palmitoyl-protein- thioesterase)
      • Jansky-Bielschowsky disease (Tripeptidyl-peptidase)

    3. Mucopolysaccharidosis

      • Hurler syndrome (MPS I) (Alpha-L-iduronidase)
      • Hunter syndrome (MPS II) (Iduronate-2-sulfatase)
      • Sanfilippo syndrome B (MPS III B) (Alpha-N-acetylglucosaminidase)
      • Morquio syndrome A (MPS IV A) (N-acetylgalactosamine-6-sulfate-sulfatase)
      • Morquio syndrome B (MPS IV B) (Beta-galactosidase)
      • Maroteaux-Lamy syndrome (MPS VI) (Arylsulfatase B)
      • Sly syndrome (MPS VII) (Beta-glucuronidase)

  2. Biomarkers assays use for detection of these disorders

    1. Gaucher disease (Glucosylsphingosine (lyso-Gb1))
    2. Fabry disease (Lyso-ceramide trihexoside (lyso-Gb3))
    3. Niemann-Pick disease type A/B/C (Lyso-SM-509)
    4. Aromatic L-amino acid decarboxylase (AADC) deficiency (3-O-methyldopa (3-OMD))
    5. Hereditary angioedema (HAE) (Complement C4-alpha peptide and Complement C1-INH pepTide