Disorders

6-Pyruvoyltetrahydropterin Synthase Deficiency

Synonym(s): 6@ Pyruvoyltetrahydropterin synthase deficiency, 6-alpha pyruvoyltetrahydropterin synthase deficiency, 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency, Dihydrobiopterin Synthetase Deficiency, PTPS Deficiency

OMIM

Gene	Locus	Protein
PTS	11q22.3	6-pyruvoyl tetrahydrobiopterin synthase

Laboratory	Test Method	Prenatal	Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark	• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Sequence analysis of the entire coding region • Analyte

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.