GCDH gene related symptoms and diseases

All the information presented here about the GCDH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GCDH gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Choreoathetosis Very Common - Between 80% and 100% cases
Encephalitis Very Common - Between 80% and 100% cases
Hyperkinesis Very Common - Between 80% and 100% cases
Leukoencephalopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GCDH gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cerebral palsy
  • Joint dislocation
  • Exercise intolerance
  • Large fontanelles
  • Abnormality of extrapyramidal motor function
  • Intracranial hemorrhage
  • Dehydration
  • Neuronal loss in central nervous system

And 72 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GCDH gene

Here you will find a list of rare diseases related to the GCDH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Alternate names

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i, glutaric aciduria i, gcdhd, ga1, glutaryl-coenzyme a dehydrogenase deficiency, glutaric aciduria type 1, glutaric acidemia type 1, glutaryl-coa dehydrogenase deficiency

Description

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

Most common symptoms of GLUTARYL-COA DEHYDROGENASE DEFICIENCY

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

SOURCES: ORPHANET MESH OMIM


Potential gene panels for GCDH gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

GCDH Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GCDH gene.

More info about this panel

GCDH Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GCDH gene.

More info about this panel

GCDH Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GCDH gene.

More info about this panel

GCDH Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GCDH gene.

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Glutaric acidemia, type 1 Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the GCDH gene.

More info about this panel

Glutaric Acidemia Type 1 - GCDH Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the GCDH gene.

More info about this panel

Glutaric Acidemia Type 1 - GCDH Del/Dup Analysis Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the GCDH 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

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

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

GCDH Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the GCDH gene.

More info about this panel

Glutaric aciduria type I Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague

This panel specifically test the GCDH gene.

More info about this panel

Glutaricacidemia Type 1 Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the GCDH 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

GCDH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GCDH gene.

More info about this panel

Glutaric aciduria type I (sequence analysis of GCDH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GCDH 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

Glutaric aciduria Type I (GA1) Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the GCDH gene.

More info about this panel

Glutaricacidemia Type 1 Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the GCDH gene.

More info about this panel

Organic Aciduria Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Organic Aciduria Sequencing Panel with CNV Detection that also includes the following genes: SLC25A1 CD320 MCEE MMAA MMAB L2HGDH MMACHC MMADHC DBT ACSF3

More info about this panel

Glutaric Acidemia Type I via GCDH Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GCDH gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

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

Glutaryl-CoA dehydrogenase (GCDH) deficiency Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the GCDH gene.

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

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

Glutaric acidemia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GCDH gene.

More info about this panel

Macrocephaly Panel Panel

Germany.

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3

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

Macrocephaly Panel Panel

Germany.

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3

More info about this panel

Glutaric Aciduria Panel Panel

Germany.

By CeGaT GmbH Glutaric Aciduria Panel that also includes the following genes: ETFA ETFB ETFDH GCDH

More info about this panel

Hereditary Degenerative Syndromes Panel Panel

Germany.

By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

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 GCDH Panel

Germany.

By CeGaT GmbH

This panel specifically test the GCDH gene.

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1

More info about this panel

Glutaricacidemia Type 1 - GCDH Panel

Sweden.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital

This panel specifically test the GCDH gene.

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

Glutaric Aciduria, type 1 Panel

Estonia.

By Asper Biogene Asper Biogene LLC

This panel specifically test the GCDH gene.

More info about this panel

GCDH Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the GCDH gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Glutaric Acidemia Type I Test Panel

United States.

By Invitae

This panel specifically test the GCDH gene.

More info about this panel

Invitae Organic Acidemias Panel Panel

United States.

By Invitae Invitae Organic Acidemias Panel that also includes the following genes: SLC25A1 BTD SUCLA2 SUCLG1 TAZ MCEE MMAA MMAB L2HGDH SERAC1

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 Elevated C5-DC Test Panel

United States.

By Invitae

This panel specifically test the GCDH gene.

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

Glutaric acidemia type 1: GCDH gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GCDH gene.

More info about this panel

Glutaric acidemia type 1: GCDH gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GCDH gene.

More info about this panel

ORGANIC ACIDEMIAS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ORGANIC ACIDEMIAS that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT

More info about this panel

Glutaric Aciduria Type I (GA-I): GCDH Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GCDH gene.

More info about this panel

Glutaric Aciduria Type I (GA-I): GCDH Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GCDH gene.

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

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

Glutaric Acidemia, Type 1 (GCDH) Panel

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the GCDH gene.

More info about this panel

Inheritest NGS, Comprehensive Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

GCDH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GCDH gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Finland.

By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE

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

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

Glutaryl-CoA dehydrogenase deficiency Panel

Spain.

By Bioarray

This panel specifically test the GCDH 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

GLUTARIC ACIDURIA TYPE 1 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GCDH gene.

More info about this panel

GLUTARIC ACIDURIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLUTARIC ACIDURIA NGS PANEL that also includes the following genes: SUGCT ETFA ETFB ETFDH GCDH

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

Glutaric aciduria, type 1 Panel

Brazil.

By Genera

This panel specifically test the GCDH gene.

More info about this panel

Glutaric Acidemia Type 1, Sequencing GCDH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GCDH gene.

More info about this panel

Glutaric Acidemia Type 1, Screening Mutations GCDH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GCDH gene.

More info about this panel

Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

By Reference Laboratory Genetics Organic Acidemias , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: MMAA MMAB MMACHC DBT GCDH HMGCL IVD MCCC1 MCCC2 MMUT

More info about this panel

Glutaric acidemia: GCDH gene sequencing Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the GCDH gene.

More info about this panel

planTrue Extended Panel

United States.

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1

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

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

Glutaric acidemia Type I: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GCDH gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Glutaric acidemia type 1 Panel

South Africa.

By Inherited Metabolic Disease group University of Cape Town and National Health Laboratory Services

This panel specifically test the GCDH gene.

More info about this panel


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