Comprehensive Clinical Test Catalogue

Comprehensive newborn screening covering 49 metabolic disorders by tandem mass spectrometry, 7 endocrine conditions, and hemoglobinopathy screening. Detects treatable conditions before symptom onset enabling early intervention.

Comprehensive metabolic newborn screening for 49 conditions including amino acid disorders, organic acidemias, and fatty acid oxidation defects using tandem mass spectrometry. Gold standard screening technology.

Seven-condition newborn screening panel covering congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, galactosemia, glucose-6-phosphate dehydrogenase deficiency, and hemoglobinopathies.

Six-condition newborn screening covering congenital hypothyroidism, CAH, biotinidase deficiency, galactosemia, G6PD deficiency, and one additional condition.

Five-condition newborn screening for most critical treatable conditions: congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, galactosemia, and G6PD deficiency.

Four-condition screening covering congenital hypothyroidism, CAH, biotinidase deficiency, and galactosemia.

Three-condition screening for congenital hypothyroidism, congenital adrenal hyperplasia, and biotinidase deficiency.

Two-condition screening covering congenital hypothyroidism and congenital adrenal hyperplasia, the two most critical endocrine conditions.

Single condition screening for congenital hypothyroidism (CH), most common preventable cause of intellectual disability when untreated.

Quantitative analysis of 40+ amino acids in plasma for diagnosis and monitoring of aminoacidopathies, urea cycle disorders, and organic acidemias. Detects elevated and decreased amino acids characteristic of specific disorders.

Comprehensive metabolic profiling detecting 250+ organic acids by gas chromatography-mass spectrometry. Diagnostic test for organic acidemias, fatty acid oxidation defects, ketone body metabolism disorders, and mitochondrial disorders.

Quantitative measurement of urinary glycosaminoglycans (dermatan sulfate, heparan sulfate, keratan sulfate, chondroitin sulfate) for screening and monitoring of mucopolysaccharidoses (MPS disorders).