Patients with a Tyrosinemia type 1 or high-grade suspi-cion for Tyrosinemia type 1

For the development of the new biomarkers using the technique of Mass-spectrometry, a blood sample of maximal 7,5 ml blood will be taken from the patient via using a dry blood spot filter card. To proof the correct diagnosis a Tyrosinemia type 1, in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of a Tyrosinemia type 1 will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Tyrosinosis

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

Metabolic Disorders

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Lady Ridgeway Hospital for Children

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)

BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol

Next-Generation Sequencing (NGS) of the FAH gene will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

tyrosinemias/hitasótt

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 (BioTyrosin)

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