PBKM, taking into account the health of its clients, has begun cooperation with the Austrian laboratory - DNA Plus Center for Human Genetics, a leader on the genetic research market. The result of this cooperation is the possibility to offer PBKM clients - as the only one in Poland - a unique diagnostic method - the Baby + Test. The Baby + test diagnoses over 100 serious genetic diseases, the consequences of which may be important to the child's life or health. The test can be performed at home, using a certified applicator. The sample is tested for over 100 genetic diseases and can be treated correctly from the beginning by the disease test.

Diseases and complications that the Baby + Test detects:

  • 2 ketoglutamaric aciduria (development problems)

  • Amidadipine ancillia (slower development, neurological problems)

  • 3-Hydroxy-3-methylglutaric acid (HAS Coase deficiency) (severe metabolic acidosis without ketosis, slow development)

  • 3-hydroxy-butyryl-CoA decarboxylase deficiency (severe hypoglycaemia and neurological damage)

  • 3-methyl crotylglycinuria [3-MCC deficiency] (acute metabolic anemia and slow development)

  • 3-methylglutaconone ancyduria (cardiomyopathy, skeletal myopathy, slow growth, malformations of the male genital organs)

  • 4-Hydroxybutyric azide (impairment of small motor skills and learning)

  • Beta-ketothiolase deficiency (poor weight gain, low blood sugar with ketone bodies)

  • Adenine phosphoribosyltransferase (urinary tract) deficiency

  • Adenosine deaminase deficiency (recurrent ear and respiratory infections)

  • Alkaptonuria (cartilage defects)

  • Argininemia (developmental disorders)

  • Argininosuccinate ancyduria (mental retardation and limitation of movement)

  • Biotinidase deficiency (facial rash, mental retardation)

  • Canavan's disease (mental retardation)

  • A deficiency of carbamyl phosphate synthetase (anergy, breathing problems)

  • Citrulinemia (anergy and abnormal behavior)

  • Cystationuria (liver dysfunction)

  • Cystynuria (slow development)

  • Cytochrome Aa3 / B deficiency (anergy and acidemia)

  • Cytochrome c oxidase deficiency (heart and kidney abnormalities, muscle weakness)

  • D-glycerin accyluria (slow weight gain)

  • Dihydrolipoamide dehydrogenase (E3) deficiency (sweet odor of urine and skin)

  • Dihydropyridinase deficiency (neonatal cramps)

  • Endogenous sacharozuria (mental retardation)

  • Ethomalcidia acne (growth disorders and coma)

  • Arakawa Syndrome (methionine synthase deficiency) (anemia)

  • Fructose-1,6-diphosphate deficiency (hypoglycaemia with ketones)

  • Fumarate hydratase deficiency (spasms and severe disability)

  • Galactosemia (liver dysfunction)

  • Type I glutaric accyadia (large head and movement disorders)

  • Type II glutaric accyadia (problems with breathing, mental retardation and limitation of movement)

  • Glutathionuria (excessive excretion of glutathione in the urine) (hemolytic anemia)

  • Glyceroluria (mental retardation)

  • Glicosuria (glycosuron) (slow weight gain)

  • Hartnup disease (sensitivity to light and eye problems)

  • Hawkinsinuria (abnormal kidney function)

  • Histidineemia (mental retardation and kidney defects)

  • Histidynuria (mental retardation and facial features)

  • Homocystinuria (mental retardation)

  • Hydroxylysinuria (mental retardation, behavioral disorder, hyperactivity)

  • Hyperhydroxyprolinemia (mental retardation)

  • Hyperglycinuria (developmental disorders)

  • Hyperleucine-Isoleucinemia (developmental disorders and cramps)

  • Hypermetioninemia (neurological problems, movement disorders, developmental disorders)

  • HHH syndrome (hyperammoniumemia, hyperammonaemia, homocytrullemia) (vomiting, anergy, developmental disorder, learning disability)

  • Pipecolic acidemia (severe developmental disorders)

  • Type-I hyperprolinaemia (neurological and psychological problems)

  • Type-II hyperprolinaemia (mental retardation and spasms)

  • Imidazole aminoaciduria (slow weight gain and cramps)

  • Iminoglicynuria (mental retardation and kidney defects)

  • Refsum's infant illness (blindness and hearing problems)

  • Isovalerate acneemia (convulsions due to hypothermia and sweating of the feet)

  • Lactose intolerance (developmental disorders)

  • Leigh syndrome (general weakness and heart problems)

  • Lesch-Nyhan's syndrome (mental retardation, tendency to binge)

  • LCHAD - deficiency of 3-hydroxyacyl-CoA dehydrogenase of long-chain fatty acids (muscle weakness, muscle pain)

  • Lysyuria (mental retardation)

  • Cynuric protein intolerance (slow weight gain)

  • Maple syrup disease (sweet smell of urine and skin, anergy, neurological defects)

  • MCAD - deficiency of acyl-CoA dehydrogenase of medium-chain fatty acids (developmental disorders)

  • Methylmalonyxidemia (anergy and spasms)

  • Methylmalonic acid [MMA] due to abnormal metabolism, absorption and transport of vitamin B12 (muscle weakness, spasms and anemia)

  • Metimalone semialdehyde dehydrogenase deficiency [MMSDH] (metabolic anemia, anergy and spasms)

  • Mevalonic ancidemia (abnormal head shape, slow development)

  • Numerous deficiency of carboxylase [MCD] (metabolic anemia, developmental disorders)

  • N-acetylglutamate synthetase deficiency [NAGS] (neurological problems)

  • Neonatal adrenoleukodystrophy NALD (muscle weakness)

  • Neuroblastoma (spontaneous development)

  • Neonatal intrahepatic cholestasis ICD (liver dysfunction)

  • Shortage of ornithine transcarblalase [OTC] (slow development, anergy and breathing problems)

  • Orotic acciuria (cardiac dysfunction and anemia)

  • Partial hypoxanthine deficiency - adenine phosphoribosyltransferase deficiency (kidney stones and mobility problems)

  • Phenylketonuria [PKU] (disorders of development and behavior)

  • Primary hyperoxaluria (kidney stones)

  • Propionic cyanidemia (hypotension, poor food intake)

  • 5-oxoprolinuria (mental retardation)

  • Pyruvate carboxylase deficiency (breathing problems)

  • Pyruvate decarboxylase deficiency (development disorders, severe movement disorders, breathing problems)

  • Pyruvate dehydrogenase (E1) deficiency (breathing problems, anergy, poor food intake)

  • Pyruvate dehydrogenase phosphatase deficiency (acemia, decreased voltage)

  • Sacharopinuria (deformity and small body structure)

  • Sarkozynemia (poor weight gain)

  • SCOT (breathing problems)

  • Carnosinuria (reduced serum carnosine activity (reduced muscle tone, developmental disorder)

  • Short-chain fatty acid dehydrogenase (SCAD) deficiency (low blood sugar, anergy)

  • Tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia) (developmental disorder, problems with behavior)

  • Uracil-thymuria (mental retardation)

  • Transient neonatal tyrosinemia (anergy and jaundice)

  • Tryptofanuria with dwarfism (small body structure and mental retardation)

  • Tyrosine disease due to liver dysfunction (hepatic dysfunction)

  • Tyrosinemia Type I (cabbage urine smell, liver dysfunction)

  • Type II Tyrosinemia (eye sensitivity to light, slow development)

  • Tyroshosis Type III (mental retardation, spasms, balance disorder)

  • Valinemia (vomiting and developmental disorders)

  • Xanthinuria (acute renal failure)

  • xanthuren acanthuria (mental retardation)

  • Pseudo-Zellweger syndrome (reduced muscle tone, developmental disorders)

  • Zellweger syndrome (reduced muscle tone and distortion)

  • beta-aminoisobutyric azide (neurological impairment)

  • β-mercaptolactate disulfiduria (mental retardation and distortion)

 

 

Why is it worth it?

              Knowledge and the possibility of preventive actions in 100 genetic diseases

Price:

Baby 59+ package for 750 PLN

Baby 100+ package for 1250 PLN

 

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