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.

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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

SOURCES: ORPHANET OMIM

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


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

GCH1 DNA Deletion Analysis (DYT5) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the GCH1 gene.

More info about this panel

GCH1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

GCH1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GCH1 - dystonia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

Hyperphenylalaninemia Panel Panel

Germany.

By CeGaT GmbH Hyperphenylalaninemia Panel that also includes the following genes: GCH1 PCBD1 PTS QDPR

More info about this panel

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

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

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

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

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

Single gene testing GCH1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

Dystonia, dopa-responsive / Segawa syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GCH1 gene.

More info about this panel

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

Dystonia, dopa-responsive / Segawa syndrome Panel

Slovakia.

By MedGene

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

GCH1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

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

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

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

Autosomal dominant dopa-responsive dystonia Panel

Spain.

By Bioarray

This panel specifically test the GCH1 gene.

More info about this panel

Autosomal dominant dopa-responsive dystonia Panel

Spain.

By Bioarray

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

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

GTP CYCLOHYDROLASE 1 DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GCH1 gene.

More info about this panel

DYSTONIA, DOPA-RESPONSIVE (DYT5) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GCH1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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


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