GCH1 gene related symptoms and diseases
All the information presented here about the GCH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GCH1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Obsessive-compulsive behavior | Common - Between 50% and 80% cases |
| Parkinsonism | Common - Between 50% and 80% cases |
| Torticollis | Common - Between 50% and 80% cases |
| Anxiety | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GCH1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Rigidity
- Babinski sign
- Depressivity
- Fatigue
- Limb dystonia
- Bradykinesia
Not very common - Between 30% and 50% cases
- Gait disturbance
- Hyperreflexia
And 89 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GCH1 gene
Here you will find a list of rare diseases related to the GCH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA
Alternate names
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation, gtpch1-deficient dopa-responsive dystonia, gtpch1-deficient drd, dyt5a, hereditary progressive dystonia with marked diurnal fluctuation, autosomal dominant segawa syndrome
Description
Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
Most common symptoms of AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA
- Intellectual disability
- Hearing impairment
- Scoliosis
- Ataxia
- Hypertension
More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA
SOURCES: ORPHANET
DYSTONIA, DOPA-RESPONSIVE; DRD
Alternate names
DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation, dystonia 5, segawa syndrome, autosomal dominant, dystonia, dopa-responsive, autosomal dominant, dopa-responsive dystonia, autosomal dominant, dystonia-parkinsonism with diurnal fluctuation, dyt5
Most common symptoms of DYSTONIA, DOPA-RESPONSIVE; DRD
- Intellectual disability
- Hearing impairment
- Scoliosis
- Nystagmus
- Spasticity
More info about DYSTONIA, DOPA-RESPONSIVE; DRD
GTP CYCLOHYDROLASE I DEFICIENCY
Alternate names
GTP CYCLOHYDROLASE I DEFICIENCY Is also known as hyperphenylalaninemia due to gtp cyclohydrolase deficiency, gtpch deficiency
Description
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
More info about GTP CYCLOHYDROLASE I DEFICIENCY
SOURCES: ORPHANET
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
Alternate names
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency, hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency
Most common symptoms of HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Strabismus
More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
SOURCES: OMIM
Search interest in GCH1
Potential gene panels for GCH1 gene
Complete Dopa-Responsive Dystonia (DYT5) Evaluation Panel
United States.
By Athena Diagnostics Inc Complete Dopa-Responsive Dystonia (DYT5) Evaluation that also includes the following genes: TH GCH1
More info about this panel United States.
GCH1 DNA Deletion Analysis (DYT5) Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the GCH1 gene.
More info about this panel United States.
GCH1 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the GCH1 gene.
More info about this panel United States.
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Epilepsy/Seizure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel United States.
Infantile Epilepsy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Parkinson's Disease Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R
More info about this panel United States.
GTP Cyclohydrolase 1-Related Disorders Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the GCH1 gene.
More info about this panel Denmark.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Panel
New Zealand.
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the GCH1 gene.
More info about this panel New Zealand.
GCH1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GCH1 gene.
More info about this panel Germany.
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel
United States.
By GeneDx Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel that also includes the following genes: BTD SPR TH MMACHC CYP27A1 GALC GBE1 GCH1 ABCD1 ARG1
More info about this panel United States.
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the GCH1 gene.
More info about this panel United Kingdom.
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panel Netherlands.
GCH1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GCH1 gene.
More info about this panel Spain.
GCH1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GCH1 gene.
More info about this panel Spain.
Hyperphenylalaninemia, BH4-deficient, B (sequence analysis of GCH1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GCH1 gene.
More info about this panel Portugal.
Parkinson disease (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Portugal.
Dystonia, DOPA-responsive (DYT5, sequence analysis of GCH1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GCH1 gene.
More info about this panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) Panel
Portugal.
By CGC Genetics Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) that also includes the following genes: TH GCH1
More info about this panel Portugal.
Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) Panel
Portugal.
By CGC Genetics Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) that also includes the following genes: TH GCH1
More info about this panel Portugal.
GCH1 Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the GCH1 gene.
More info about this panel Netherlands.
DYSTONIA DYT5 Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the GCH1 gene.
More info about this panel India.
GTP Cyclohydrolase 1-Related Disorders Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the GCH1 gene.
More info about this panel Netherlands.
Hyperphenylalaninemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hyperphenylalaninemia Sequencing Panel with CNV Detection that also includes the following genes: DNAJC12 GCH1 PAH PCBD1 PTS QDPR
More info about this panel United States.
Dystonia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
Autosomal Domianant DOPA-Responsive Dystonia via GCH1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GCH1 gene.
More info about this panel United States.
Parkinson Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
GCH1 - dystonia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the GCH1 gene.
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
GTP Cyclohydrolase 1-Related Disorders Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GCH1 gene.
More info about this panel Germany.
DYT5A - DOPA-responsive dystonia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GCH1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Parkinsons disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Germany.
GCH1 related disorders Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the GCH1 gene.
More info about this panel Germany.
Metabolic Epilepsy Panel Panel
Germany.
By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Hyperphenylalaninemia Panel Panel
Germany.
By CeGaT GmbH Hyperphenylalaninemia Panel that also includes the following genes: GCH1 PCBD1 PTS QDPR
More info about this panel Germany.
Parkinson all Panel Panel
Germany.
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panel Germany.
Atypical Parkinson syndrome Panel Panel
Germany.
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panel Germany.
Parkinson Dystonia Panel Panel
Germany.
By CeGaT GmbH Parkinson Dystonia Panel that also includes the following genes: SLC6A3 SPR TAF1 TH SLC30A10 GCH1 ATP1A3 PLA2G6 PRKRA
More info about this panel Germany.
Dystonia Plus Syndrome Panel Panel
Germany.
By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing GCH1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GCH1 gene.
More info about this panel Germany.
Segawa syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Segawa syndrome that also includes the following genes: TH GCH1
More info about this panel Poland.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
Parkinson Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panel Estonia.
Dopa-responsive dystonia, GCH1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the GCH1 gene.
More info about this panel United States.
Dystonia, dopa-responsive / Segawa syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GCH1 gene.
More info about this panel Austria.
DYSTONIA, DOPA-RESPONSIVE Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the GCH1 gene.
More info about this panel Colombia.
Dystonia, dopa-responsive / Segawa syndrome Panel
Slovakia.
By MedGene
This panel specifically test the GCH1 gene.
More info about this panel Slovakia.
Invitae Dystonia Comprehensive Panel Panel
United States.
By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
Invitae Hereditary Parkinson's Disease and Parkinsonism Panel Panel
United States.
By Invitae Invitae Hereditary Parkinson's Disease and Parkinsonism Panel that also includes the following genes: SLC6A3 SNCA SPR TH VPS35 FBXO7 PINK1 DNAJC6 PARK7 LRRK2
More info about this panel United States.
Invitae Elevated Phenylalanine Panel Panel
United States.
By Invitae Invitae Elevated Phenylalanine Panel that also includes the following genes: SPR GCH1 PAH PCBD1 PTS QDPR
More info about this panel United States.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Invitae Hyperphenylalaninemia Panel Panel
United States.
By Invitae Invitae Hyperphenylalaninemia Panel that also includes the following genes: SPR GCH1 PAH PCBD1 PTS QDPR
More info about this panel United States.
Invitae Neurotransmitter Disorders Panel Panel
United States.
By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Dopa-responsive dystonia, Autosomal dominant: GCH1 (DYT5) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GCH1 gene.
More info about this panel Spain.
Dopa-responsive dystonia: GCH1 (DYT5) and TH genes deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GCH1 gene.
More info about this panel Spain.
DYSTONIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
NGS panel - Parkinson Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panel Netherlands.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Parkinson-Alzheimer-Dementia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panel United States.
GCH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GCH1 gene.
More info about this panel United States.
Spastic Paraplegia Panel Panel
Finland.
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Metabolic Epilepsy Panel Panel
Finland.
By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT
More info about this panel Finland.
Hyperphenylalaninemia Panel Panel
Finland.
By Blueprint Genetics Hyperphenylalaninemia Panel that also includes the following genes: GCH1 PAH PCBD1 PTS QDPR
More info about this panel Finland.
Parkinson Disease Panel Panel
Finland.
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Dystonia Panel Panel
Finland.
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panel Finland.
Autosomal dominant dopa-responsive dystonia Panel
Spain.
By Bioarray
This panel specifically test the GCH1 gene.
More info about this panel Spain.
Autosomal dominant dopa-responsive dystonia Panel
Spain.
By Bioarray
This panel specifically test the GCH1 gene.
More info about this panel Spain.
Baby Genes Targeted Panel Panel
United States.
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel United States.
Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel that also includes the following genes: SNCA FBXO7 PINK1 DNAJC6 PARK7 ATP13A2 GCH1 PRKN PLA2G6
More info about this panel United States.
GCH1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GCH1 gene.
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
GTP CYCLOHYDROLASE 1 DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GCH1 gene.
More info about this panel Spain.
DYSTONIA, DOPA-RESPONSIVE (DYT5) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GCH1 gene.
More info about this panel Spain.
DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY) Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY) that also includes the following genes: SGCE TH GCH1
More info about this panel Spain.
MYOCLONUS DYSTONIA (DYT11) Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOCLONUS DYSTONIA (DYT11) that also includes the following genes: SGCE TH KCTD17 DRD2 GCH1
More info about this panel Spain.
PARKINSON NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6
More info about this panel Spain.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
Autosomal Dominant Dopa-Responsive Dystonia, Sequencing GCH1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GCH1 gene.
More info about this panel Spain.
Dopa-Responsive Dystonia , Deletions-Duplications (MLPA) GCH1,TH Genes Panel
Spain.
By Reference Laboratory Genetics Dopa-Responsive Dystonia , Deletions-Duplications (MLPA) GCH1,TH Genes that also includes the following genes: TH GCH1
More info about this panel Spain.
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
Dopa-Responsive Dystonia , Panel Massive Sequencing (NGS) GCH1,TH, SPR Genes Panel
Spain.
By Reference Laboratory Genetics Dopa-Responsive Dystonia , Panel Massive Sequencing (NGS) GCH1,TH, SPR Genes that also includes the following genes: SPR TH GCH1
More info about this panel Spain.
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panel Canada.
Disorders of biopterin regeneration: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Disorders of biopterin regeneration: gene sequencing panel (RAPID testing) that also includes the following genes: GCH1 PCBD1 PTS QDPR
More info about this panel Canada.
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel Canada.
BH4-deficient Hyperphenylalaninemia B (GTP cyclohydrolase 1 deficiency): Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GCH1 gene.
More info about this panel Canada.
DOPA-responsive dystonia (with or without hyperphenylalaninemia): Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GCH1 gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MALT1 DBH KMT2B CARS2 TNFRSF11A CYP3A4 PTAFR