6-Pyruvoyltetrahydropterin Synthase Deficiency

Synonym(s): Hyperphenylalaninemia, BH4-deficient, A, 6-alpha pyruvoyltetrahydropterin synthase deficiency, 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency, Dihydrobiopterin Synthetase Deficiency, PTPS Deficiency

 

OMIM

GeneLocusProtein
PTS11q22.36-pyruvoyl tetrahydrobiopterin synthase
Test Type
Biochemical (2)
Molecular (23)
Multi-Gene Panel (10)
Multi-Method Panel (10)
Test Method
Del/Dup (CNV) (10)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Quantitative Biochemical Analysis (2)
Sequencing, Capillary (Sanger) (10)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (2)
Uniparental Disomy (1)
Sequencing, Next Gen (11)
Chromosome Analysis (1)
Prenatal/Carrier
Prenatal (7)
Carrier (15)
Lab Location
Germany(5)
USA(16)
Denmark(1)
Korea, Republic of(1)
Portugal(1)
Canada(1)


Test
6-Pyruvoyltetrahydropterin Synthase Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
6-Pyruvoyltetrahydropterin Synthase Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 1-2 weeks
price: contact lab
6-Pyruvoyltetrahydropterin Synthase Deficiency Test
method(s): ◦ Quantitative Biochemical Analysis 
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA
6-Pyruvoyltetrahydropterin Synthase Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark
PTS-related disorder test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3-4 weeks
price: contact lab
PTS Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
PTS Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 7-10 days
price: contact lab
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 2-3 days
price: contact lab
Baby Genes Newborn Screening Panel
method(s): ◦ Chromosome Analysis ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
Baby Genes Inc - Golden, CO, USA
TAT: 4-6 weeks
price: contact lab
Hyperphenylalaninemia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Hyperphenylalaninemia, A (sequence analysis of PTS gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing PTS
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 1 week
price: contact lab
Urinary Biopterin Profiling
method(s): ◦ Quantitative Biochemical Analysis 
Children's Hospital Los Angeles, Department of Pathology and Laboratory Medicine - Los Angeles, CA, USA
TAT: 2 weeks
price: contact lab
PTS Full Gene Sequencing Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 137 (Pan-Ethnic Intermediate Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: $650.00
6-Pyruvoyltetrahydropterin Syntase (PTPS) Deficiency via the PTS Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Hyperphenylalaninemia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: ~2 weeks
price: contact lab
Hyperphenylalaninemia, BH4-deficient, type A
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1 week
price: contact lab
BH4-deficient Hyperphenylalaninemia A: Full gene sequencing (Rapid testing)
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1-3 weeks
price: $1,500.00
Invitae Metabolic Disorders Newborn Screening Confirmation Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Treatable Neurometabolic Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Hyperphenylalaninemia Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Elevated Phenylalanine Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Neurotransmitter Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA