SLC37A4 gene related symptoms and diseases
All the information presented here about the SLC37A4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC37A4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Focal segmental glomerulosclerosis | Very Common - Between 80% and 100% cases |
| Proteinuria | Very Common - Between 80% and 100% cases |
| Xanthomatosis | Very Common - Between 80% and 100% cases |
| Xanthelasma | Very Common - Between 80% and 100% cases |
| Decreased glomerular filtration rate | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC37A4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hyperlipidemia
- Lactic acidosis
- Hepatocellular carcinoma
- Delayed puberty
- Hypoglycemia
- Hepatomegaly
- Hypertension
- Gout
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC37A4 gene
Here you will find a list of rare diseases related to the SLC37A4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB
Alternate names
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib, gsd type ib, glycogenosis due to glucose-6-phosphatase deficiency type 1b, glycogen storage disease type ib, gsd due to g6p deficiency type ib, glycogen storage disease due to g6p deficiency t
Description
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB
- Seizures
- Short stature
- Growth delay
- Hypertension
- Hepatomegaly
More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB
GLYCOGEN STORAGE DISEASE IC; GSD1C
Alternate names
GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic
Most common symptoms of GLYCOGEN STORAGE DISEASE IC; GSD1C
- Hypertension
- Hepatomegaly
- Renal insufficiency
- Hypoglycemia
- Proteinuria
More info about GLYCOGEN STORAGE DISEASE IC; GSD1C
Search interest in SLC37A4
Potential gene panels for SLC37A4 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 United States.
SLC37A4 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
SLC37A4 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
SLC37A4 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
SLC37A4 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
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 United States.
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 United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
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 panel United States.
SLC37A4 Mutation Analysis for GSD 1b Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panel United States.
Inherited Neutropenia panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia panel by next-generation sequencing (NGS) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel United States.
Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Deletion/Duplication Panel that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Inherited Neutropenia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Inherited Neutropenia Deletion/Duplication Panel that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 LYST VPS13B CSF3R G6PC3 CXCR4
More info about this panel United States.
SLC37A4 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
SLC37A4 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
Glycogenosis type Ib 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 SLC37A4 gene.
More info about this panel Czech Republic.
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Glycogen Storage Disease and Gluconeogenesis Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel Czech Republic.
Glycogen Storage Disease Type Ib Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the SLC37A4 gene.
More info about this panel United Kingdom.
Glycogen Storage Disease- Liver Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Liver that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYG2 GYS2 PFKL PHKA2
More info about this panel United Kingdom.
SLC37A4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
SLC37A4. Detection of the mutations .1042_1043delCT and p.Gly339Cys by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
Ketotic Hypoglycemia Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq + Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Ketotic Hypoglycemia Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Glycogen Storage Disease Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Ketotic Hypoglycemia Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq Analysis that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Glycogen Storage Disease Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq + Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Glycogen Storage Disease Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq Analysis that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Glycogen Storage Disease Type Ib Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC37A4 gene.
More info about this panel Portugal.
Glycogen storage disease due to glucose-6-phosphatase deficiency type 1B (sequence analysis of SLC37A4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC37A4 gene.
More info about this panel Portugal.
Glycogen storage disease (NGS panel for 13 genes) Panel
Portugal.
By CGC Genetics Glycogen storage disease (NGS panel for 13 genes) that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1 PHKA2
More info about this panel Portugal.
Hereditary neutropenia (NGS panel for 22 genes) Panel
Portugal.
By CGC Genetics Hereditary neutropenia (NGS panel for 22 genes) that also includes the following genes: TAZ WAS WIPF1 VPS45 HAX1 SBDS LYST VPS13B CSF3R G6PC3
More info about this panel Portugal.
Glycogen storage disease (NGS panel for 22 genes) Panel
Portugal.
By CGC Genetics Glycogen storage disease (NGS panel for 22 genes) that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Portugal.
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel United States.
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Metabolic Hypoglycemia Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 ACSF3 AGL FBP1 G6PC SLC37A4 GALT ALDOB GYS2
More info about this panel United States.
Glycogen Storage Disease Type Ib via SLC37A4 (G6PT1) Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B
More info about this panel United States.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
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.
Glycogen storage disease type IB Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC37A4 gene.
More info about this panel Germany.
Glycogen storage disease type IC Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC37A4 gene.
More info about this panel Germany.
Bone marrow failure syndromes (Metabolism) Panel Panel
Germany.
By CeGaT GmbH Bone marrow failure syndromes (Metabolism) Panel that also includes the following genes: TCN2 SLC35C1 SLC46A1 SLC37A4
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel Germany.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
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 panel Estonia.
Glycogen Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Glycogen Storage Disease that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1 GYG1
More info about this panel Estonia.
SLC37A4 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the SLC37A4 gene.
More info about this panel Austria.
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 United States.
Invitae Liver Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Liver Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panel United States.
Invitae Monogenic Inflammatory Bowel Disease Panel Panel
United States.
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Phagocyte Defects Panel Panel
United States.
By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA
More info about this panel United States.
Invitae Comprehensive Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Comprehensive Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 RBCK1 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1
More info about this panel United States.
Glycogen storage disease type 1b: SLC37A4 gene mutations analysis (c.1042-1043delCT, Gly339Cys) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
Glycogen storage disease type 1b: SLC37A4 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
GLYCOGEN STORAGE DISEASE Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases GLYCOGEN STORAGE DISEASE that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Spain.
Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Glycogen Storage Disorders- Liver: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Sequencing Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panel United States.
Glycogen Storage Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Comprehensive Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
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 panel United States.
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 United States.
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panel United States.
Glycogen Storage Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panel United States.
Glycogen Storage Disease Type 1b (SLC37A4) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
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 United States.
SLC37A4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC37A4 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Glycogen Storage Disorder Panel Panel
Finland.
By Blueprint Genetics Glycogen Storage Disorder Panel that also includes the following genes: SLC2A2 RBCK1 NHLRC1 AGL ENO3 EPM2A FBP1 G6PC SLC37A4 GAA
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
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.
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
Finland.
By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panel Finland.
Congenital Neutropenia Panel Panel
Finland.
By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST
More info about this panel Finland.
Glycogen storage disease type 1b Panel
Spain.
By Bioarray
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
Severe Congenital Neutropenia Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Severe Congenital Neutropenia Gene Set that also includes the following genes: RUNX1 SRP54 TAZ TCIRG1 WAS VPS45 HAX1 SBDS LYST VPS13B
More info about this panel United States.
GLYCOGEN STORAGE DISEASE, TYPE 1B Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
GLYCOGEN STORAGE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLYCOGEN STORAGE: NGS PANEL that also includes the following genes: AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1 GYS2
More info about this panel Spain.
Glycogen Storage Disease Type 1B, Sequencing SLC37A4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
Glycogen Storage Disease Type 1B, Mutations (c.1042-1043delCT, Gly339Cys) SLC37A4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC37A4 gene.
More info about this panel Spain.
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SLC2A2 AGL G6PC SLC37A4 GAA GBE1 GYS2 PFKM PHKA2 PYGL
More info about this panel Spain.
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes Panel
Spain.
By Reference Laboratory Genetics Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes that also includes the following genes: RMRP RPL11 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel Spain.
Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Panel
Spain.
By Reference Laboratory Genetics Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: TAZ WAS WIPF1 HAX1 SBDS LYST VPS13B CSF3R G6PC3 CXCR4
More info about this panel Spain.
Glycogen Storage Disease Type Ib Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SLC37A4 gene.
More info about this panel Germany.
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 Canada.
Glycogen Storage Disease Type I: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Glycogen Storage Disease Type I: gene sequencing panel that also includes the following genes: G6PC SLC37A4
More info about this panel Canada.
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