DLD gene related symptoms and diseases
All the information presented here about the DLD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DLD gene
Symptoms // Phenotype | % Cases |
---|---|
Polycythemia | Very Common - Between 80% and 100% cases |
Cardiomyopathy | Very Common - Between 80% and 100% cases |
Methemoglobinemia | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Exertional dyspnea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DLD gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Opisthotonus
- Hepatic failure
- Lactic acidosis
- Elevated hepatic transaminase
- Hypoglycemia
- Hypertonia
- Vomiting
- Lethargy
And 78 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DLD gene
Here you will find a list of rare diseases related to the DLD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PYRUVATE DEHYDROGENASE E3 DEFICIENCY
Alternate names
PYRUVATE DEHYDROGENASE E3 DEFICIENCY Is also known as e3-deficient maple syrup urine disease, nadh-cytochrome b5 reductase deficiency, dihydrolipoamide dehydrogenase deficiency, nadh-dependent methemoglobin reductase deficiency, methemoglobinemia, congenital, autosomal recessive, dld deficiency
Description
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Most common symptoms of PYRUVATE DEHYDROGENASE E3 DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PYRUVATE DEHYDROGENASE E3 DEFICIENCY
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD
Alternate names
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD Is also known as maple syrup urine disease, type iii, e3 deficiency, lipoamide dehydrogenase deficiency, lactic acidosis due to, dld deficiency
Description
DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD ), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001).
Most common symptoms of DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
More info about DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD
SOURCES: OMIM
Search interest in DLD
Potential gene panels for DLD gene
MitoMet®Plus aCGH Analysis Panel
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 panelDLD Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the DLD gene.
More info about this panelDLD Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the DLD gene.
More info about this panelDLD Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the DLD gene.
More info about this panelGeneAware Complete Panel Version 2 (Female) Panel
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 panelGeneAware Complete Panel Version 2 (Male) Panel
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 panelGeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panelGeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panelAshkenazi Jewish Carrier Screening Panel Panel
By Center for Human Genetics, Inc Ashkenazi Jewish Carrier Screening Panel that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD F11 FANCC FKTN
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelAtaxia Exome Panel Panel
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 panelAshkenazi Jewish Diseases, 16 Genes Panel
By ARUP Laboratories, Molecular Genetics and Genomics Ashkenazi Jewish Diseases, 16 Genes that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD FANCC G6PC HEXA
More info about this panelMitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panelLipoamide Dehydrogenase Deficiency (DLD), 2 Variants Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the DLD gene.
More info about this panelNGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
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 panelDihydrolipoamide dehydrogenase deficiency (G229C mutation on DLD gene) Panel
By CGC Genetics
This panel specifically test the DLD gene.
More info about this panelLipoamide dehydrogenase deficiency (p.GLy229Cys and p.Tyr35* mutations on DLD gene) Panel
By CGC Genetics
This panel specifically test the DLD gene.
More info about this panelDihydrolipoamide dehydrogenase deficiency (sequence analysis of DLD gene) Panel
By CGC Genetics
This panel specifically test the DLD gene.
More info about this panelDLD Sequence Analysis Panel
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the DLD gene.
More info about this panelOrganic Aciduria Sequencing Panel with CNV Detection Panel
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 panelDihydrolipoamide Dehydrogenase Deficiency via DLD Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DLD gene.
More info about this panelPyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pyruvate Dehydrogenase Complex Deficiency Sequencing Panel with CNV Detection that also includes the following genes: PDHX DLAT DLD PDHA1 PDHB PDP1
More info about this panelLeigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L SCO2 SUCLA2 SUCLG1 SURF1 TSFM FBXL4 GFM1 GTPBP3 LRPPRC
More info about this panelMitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panelHypertrophic cardiomyopathy - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2
More info about this panelMental retardation - different panels Panel
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 panelNeurogenetic Disorders - panels Panel
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 panelMitochondrial Diseases Panel
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panelPyruvate Dehydrogenase Deficiency Panel
By MGZ Medical Genetics Center Pyruvate Dehydrogenase Deficiency that also includes the following genes: PDHX DLAT DLD PC PDHA1 PDHB
More info about this panelMitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panelDihydrolipoamide dehydrogenase deficiency (MSUD type III) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the DLD gene.
More info about this panelAshkenazi panel (advanced) Panel
By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA
More info about this panelComprehensive mitochondrial disorders panel Panel
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 panelMaple syrup urine disease panel Panel
By Centogene AG - the Rare Disease Company Maple syrup urine disease panel that also includes the following genes: DBT DLD BCKDHA BCKDHB
More info about this panelMaple sirup urine disease type III Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DLD gene.
More info about this panelAllNeuro panel Panel
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 panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelNuclear encoded Mitochondriopathies Panel Panel
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 panelSingle gene testing DLD Panel
By CeGaT GmbH
This panel specifically test the DLD gene.
More info about this panelAshkenazi Jewish diseases Panel
By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR
More info about this panelMitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panelSkeletal Myopathy Panel Panel
By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT
More info about this panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panelCardiomyopathies Panel Panel
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panelHypertrophic Cardiomyopathy Extended Panel Panel
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panelCardiovascular Diseases_General Panel Panel
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panelSkeletal myopathy Panel Panel
By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ
More info about this panelArrhythmia General Panel Panel
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panelHypertrophic cardiomyopathy extended panel Panel
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panelCardiomyopathies General Panel Panel
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panelFamily Prep Screen Panel
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 panelqCarrier Plus Panel
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 panelInvitae Elevated Leucine Panel Panel
By Invitae Invitae Elevated Leucine Panel that also includes the following genes: PPM1K DBT DLD BCKDHA BCKDHB
More info about this panelInvitae Dihydrolipoamide Dehydrogenase Deficiency Test Panel
By Invitae
This panel specifically test the DLD gene.
More info about this panelInvitae 2-Ketoglutarate Dehydrogenase Deficiency Panel Panel
By Invitae Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel that also includes the following genes: SLC25A19 DLD OGDH
More info about this panelInvitae Pyruvate Dehydrogenase Deficiency Panel Panel
By Invitae Invitae Pyruvate Dehydrogenase Deficiency Panel that also includes the following genes: LIAS PDHX MPC1 DLAT DLD PDHA1 PDHB PDP1
More info about this panelInvitae Treatable Neurometabolic Disorders Panel Panel
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 panelDihydrolipoamide dehydrogenase deficiency: DLD gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DLD gene.
More info about this panelLEIGH SYNDROME Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LEIGH SYNDROME that also includes the following genes: BCS1L SCO2 SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD PDHA1
More info about this panelMAPLE SYRUP URINE DISEASE Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases MAPLE SYRUP URINE DISEASE that also includes the following genes: DBT DLD BCKDHA BCKDHB
More info about this panelMaple Syrup Urine Disease (Type III): DLD Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DLD gene.
More info about this panelMaple Syrup Urine Disease (Type III): DLD Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DLD gene.
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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 panelAshkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelAshkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelMaple Syrup Urine Disease (MSUD): Sequencing NGS Multi-Gene Panel (4 genes) Panel
By DLE - Diagnosticos Laboratoriais Especializados Maple Syrup Urine Disease (MSUD): Sequencing NGS Multi-Gene Panel (4 genes) that also includes the following genes: DBT DLD BCKDHA BCKDHB
More info about this panelInheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
More info about this panelDihydrolipoamide Dehydrogenase Deficiency Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the DLD gene.
More info about this panelAshkenazi Jewish Carrier Testing Panel
By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN
More info about this panelInheritest NGS, Comprehensive Panel
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 panelEpilepsy NGS Panel Panel
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 panelLactic Acidosis-Pyruvate NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM
More info about this panelNuclear-Mito NGS Panel Panel
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 panelDLD Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DLD gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelHyperammonemia and Urea Cycle Disorder Panel Panel
By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS
More info about this panelOrganic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
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 panelComprehensive Metabolism Panel Panel
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 panelBaby Genes Targeted Panel Panel
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 panelDLD Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the DLD gene.
More info about this panelPYRUVATE DEHYDROGENASE DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL PYRUVATE DEHYDROGENASE DEFICIENCY that also includes the following genes: PDHX DLAT DLD PDHA1 PDHB
More info about this panelLEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY) Panel
By Laboratorio de Genetica Clinica SL LEIGH'S SYNDROME (CYTOCHROME C OXIDASE DEFICIENCY) that also includes the following genes: BCS1L SCO2 SDHA SURF1 COX10 COX15 DLD NDUFS1 NDUFS3 NDUFS4
More info about this panelLEIGH SYNDROME: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LEIGH SYNDROME: NGS PANEL that also includes the following genes: BCS1L SCO2 SDHA SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD
More info about this panelMAPLE SYRUP URINE DISEASE NGS PANEL Panel
By Laboratorio de Genetica Clinica SL MAPLE SYRUP URINE DISEASE NGS PANEL that also includes the following genes: PPM1K DBT DLD BCKDHA BCKDHB
More info about this panelDihydrolipoamide Dehydrogenase Deficiency , Sequencing DLD Gene Panel
By Reference Laboratory Genetics
This panel specifically test the DLD gene.
More info about this panelLeigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Leigh Syndrome, Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: BCS1L SCO2 SURF1 SLC19A3 COX10 COX15 TACO1 COQ2 DLD PDHA1
More info about this panelMaple Syrup Urine Disease , Panel Massive Sequencing (NGS) 4 Genes Panel
By Reference Laboratory Genetics Maple Syrup Urine Disease , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: DBT DLD BCKDHA BCKDHB
More info about this panelStorage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panelplanTrue Extended Panel
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 panelplanTrue Standard Panel
By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelplanTrue Jewish Screen Panel
By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
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 panelCEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
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 panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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 panelMaple Syrup Urine Disease: gene sequencing panel (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Maple Syrup Urine Disease: gene sequencing panel (Rapid testing) that also includes the following genes: DBT DLD BCKDHA BCKDHB
More info about this panelMaple Syrup Urine Disease: gene sequencing panel (RAPID testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Maple Syrup Urine Disease: gene sequencing panel (RAPID testing) that also includes the following genes: DBT DLD BCKDHA BCKDHB
More info about this panelDihydrolipoamide dehydrogenase E3 deficiency: Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the DLD gene.
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