ICU
Designed for genetic testing in critically ill newborns and young children under 24 months in ICU. It covers multiple genetic conditions with overlapping symptoms and allows for a single test using dried blood spots for accurate diagnosis.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Alagille syndrome
- Alpha-Thalassemia
- Arginase deficiency
- Beta-Thalassemia
- Biotinidase deficiency
- Biotin-thiamine-responsive basal ganglia disease
- Carnitine deficiency
- Congenital hypothyroidism
- Cystic Fibrosis
- Dystonia DOPA responsive
- Factor VII deficiency
- Glucose transporter 1 deficiency
- Glutaric acidemia Type 1
- Hereditary fructose intolerance
- Holocarboxylase synthetase deficiency
- Maple syrup urine disease (MSUD)
- Non ketotic hyperglicinemia
- Phenylketonuria
- Pompe disease
- Primary coenzyme Q10 deficiency
- Pyridoxamine 5 phosphate oxidase deficiency
- Pyridoxine-dependent epilepsy
- Pyruvate carboxylase deficiency
- Tuberous sclerosis complex
- Tyrosinemia type I
- VLCAD deficiency
IEM
For metabolic and liver diseases, screening for a diverse range of disorders including intermediary metabolism, energetic processes, and cellular organelle-related conditions.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Aicardi-Goutieres syndrome
- Autoimmune lymphoproliferative syndrome
- Ceroid lipofuscinosis
- Congenital glycosylation disease
- Familial hypercholesterolemia
- Fatty acid oxidation disorder
- Fatty liver disease
- Glycogen storage disease
- Hemophagocytic lymphohistiocytosis
- Hereditary hemochromatosis
- Hereditary spherocytosis
- Leigh syndrome and mitochondrial encephalopathy
- Leukodystrophy and peroxisome biogenesis disorders
- Lipodystrophy syndromes
- Lysosomal storage disease
- Maple syrup urine disease
- Methylmalonic acidemia
- Mucopolysaccharidosis
- Neurodegeneration with Brain Iron Accumulation
- Non-ketotic hyperglycinemia
- Organic acidemias
- Porphyria
- Refsum disease
- Urea cycle disorder
Metabolic MOx
For patients suspected of metabolic disorders or complex conditions, especially in NICU/PICU settings. It offers fast results, utilises a multiomic approach, and includes enzyme activity testing and continuously updated biomarkers.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Congenital disorders of glycosylation and other disorders
of protein modification - Defects in cholesterol and lipoprotein metabolism
- Defects in hormone biogenesis or function
- Disorder of phosphate, calcium and vitamin D metabolism
- Disorders in the metabolism of purines, pyrimidines and nucleotides
- Disorders in the metabolism of trace elements and metals
- Disorders in the metabolism of vitamins and (non-protein) cofactors
- Disorders of amino acid and peptide metabolism
- Disorders of carbohydrate metabolism
- Disorders of energy metabolism
- Disorders of fatty acid and ketone body metabolism
- Disorders of lipid and lipoprotein metabolism
- Disorders of neurotransmitter metabolism
- Disorders of porphyrin and heme metabolism
- Disorders of the metabolism of sterols
- Lysosomal disorders
- Peroxisomal disorders
- Porphyria and bilirubinemia
Mito comprehensive
Covers the entire mitochondrial genome and can detect heteroplasmy down to 15.0%. It also tests for nuclear genes related to mitochondrial diseases, which primarily affect organs with high energy demands.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Chronic progressive external ophthalmoplegia
- Kearns-Sayre syndrome
- Leigh’s syndrome and maternally inherited Leigh’s syndrome
- Mitochondrial disorders
- Mitochondrial encephalomyopathy, lactic acidosis and stroke-like
episodes - Myoclonus epilepsy with ragged red fibers
- Myogastrointestinal encephalomyopathy
- NARP
- Neonatal mitochondrial hepatopathies
- Pearson syndrome
Mito Genome
Includes mitochondrial genes. Nuclear mitochondrial genes are not included.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Chronic progressive external ophthalmoplegia
- Kearns-Sayre syndrome
- Leber hereditary optic neuropathy
- Leigh-like syndrome
- Leigh syndrome
- Mitochondrial disorders
- NARP
Diabetes & obesity panel
Suitable for patients with various glucose metabolism abnormalities and insulin-related disorders, including Prader-Willi syndrome detection. However, it does not cover disorders caused by imprinting errors or uniparental disomy, except for the genomic region 15q11, which is included in the analysis.
- TAT : 28 working days
- Sample : EDTA blood
Included Syndromes & Disorders
- Bardet-Biedl syndrome
- Congenital glycosylation disease
- Congenital hyperinsulinism
- Congenital hypothyroidism
- Diabetes insipidus
- Growth hormone deficiency
- Familial hypercholesterolemia
- Hypoglycemia
- Maturity onset diabetes of the young
- Neonatal diabetes
- Obesity
