ALDOB gene related symptoms and diseases
All the information presented here about the ALDOB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALDOB gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Neonatal hypoglycemia | Very Common - Between 80% and 100% cases |
Meningitis | Very Common - Between 80% and 100% cases |
Hyperbilirubinemia | Very Common - Between 80% and 100% cases |
Shock | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALDOB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypokalemia
- Malnutrition
- Hypophosphatemia
- Glycosuria
- Prolonged neonatal jaundice
- Hyperuricemia
- Renal tubular acidosis
- Ketosis
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALDOB gene
Here you will find a list of rare diseases related to the ALDOB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEREDITARY FRUCTOSE INTOLERANCE
Alternate names
HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency, hereditary fructose-1-phosphate aldolase deficiency, hereditary fructosemia, fructose-1,6-bisphosphate aldolase b deficiency, fructose-1-phosphate aldolase deficiency, fructosemia, aldob deficiency
Description
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.
Most common symptoms of HEREDITARY FRUCTOSE INTOLERANCE
- Intellectual disability
- Seizures
- Growth delay
- Failure to thrive
- Pain
More info about HEREDITARY FRUCTOSE INTOLERANCE
Search interest in ALDOB
Potential gene panels for ALDOB gene
ALDOB Comprehensive - Sequence & Deletion/Duplication Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
ALDOB Deletion/Duplication Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
ALDOB Sequence Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
ALDOB, FBP1,GYS2 & PC Sequence Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories ALDOB, FBP1,GYS2 & PC Sequence Analysis that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panel![](/img/flags/United-states.png)
ALDOB Sequence Analysis (Prenatal Diagnosis) Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
MitoMet®Plus aCGH Analysis Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Female) Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Gluconeogenesis Disorders Panel
![](/img/flags/United-states.png)
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Gluconeogenesis Disorders that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panel![](/img/flags/United-states.png)
Liver Diseases Deletion/duplication panel Panel
![](/img/flags/United-states.png)
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panel![](/img/flags/United-states.png)
Liver Diseases Panel by next-generation sequencing (NGS) Panel
![](/img/flags/United-states.png)
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel![](/img/flags/United-states.png)
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
![](/img/flags/Czech-republic.png)
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![](/img/flags/Czech-republic.png)
ALDOB. Detection of the mutations p.Ala150Pro, p.Ala175Asp and p.Asn335Lys by sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ALDOB. Complete sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Fructose intolerance (sequence analysis of ALDOB gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Fructose intolerance (sequence analysis of ALDOB gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Frutosis intolerance (deletions/duplications analysis of ALDOB gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Frutosis intolerance (deletions/duplications analysis of ALDOB gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Hereditary Fructose Intolerance Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Hereditary Fructose Intolerance via ALDOB Gene Sequencing with CNV Detection Panel
![](/img/flags/United-states.png)
By PreventionGenetics PreventionGenetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Hereditary Fructose Intolerance Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Aldolase B deficiency (ALDOB) Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
AllNeuro panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CentoICU platinum plus Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
New Born testing (CentoICU) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Fructose intolerance Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Fructose intolerance, hereditary Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing ALDOB Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hereditary Fructose Intolerance - ALDOB Panel
![](/img/flags/Sweden.png.pagespeed.ce.BhgqCXTuor.png)
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Sweden.png.pagespeed.ce.BhgqCXTuor.png)
Fructosemia Panel
![](/img/flags/Poland.png.pagespeed.ce.Md_1dszNnR.png)
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Poland.png.pagespeed.ce.Md_1dszNnR.png)
Hereditary Fructose Intolerance (ALDOB) Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Fructose intolerance Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Praxis fuer Humangenetik Wien
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Fructose intolerance Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Praxis fuer Humangenetik Wien
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
ALDOB Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Family Prep Screen Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
qCarrier Plus Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Fructose intolerance Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Fructose intolerance Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Invitae Hereditary Fructose Intolerance Test Panel
![](/img/flags/United-states.png)
By Invitae
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
Aldolase B (hereditary fructose intolerance): ALDOB gene mutations analysis (p.A149P, p.A174D, p.N334K) Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Aldolase B (hereditary fructose intolerance): ALDOB gene sequence analysis Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Hereditary Fructose Intolerance: ALDOB full gene sequence analysis Panel
![](/img/flags/Brazil.png.pagespeed.ce.Qo6TwT2k7T.png)
By DLE - Diagnosticos Laboratoriais Especializados
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Brazil.png.pagespeed.ce.Qo6TwT2k7T.png)
Hereditary Fructose Intolerance (ALDOB) Panel
![](/img/flags/United-states.png)
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Comprehensive Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
ALDOB Panel
![](/img/flags/United-states.png)
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
Hereditary Fructose Intolerance (HFI) Panel
![](/img/flags/United-states.png)
By Pro Genetic Laboratory/ (DBA) University Childrens' Genetics Laboratory
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Metabolism Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Congenital Mono- and Disaccharide Disorders Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Congenital Mono- and Disaccharide Disorders Panel that also includes the following genes: SI SLC2A1 SLC2A2 SLC5A1 GALE GALK1 GALT ALDOB LCT
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Metabolic Liver Failure Panel Panel
![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Hereditary fructose intolerance Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Aldolase B (Hereditary Intolerance To Fructose) , Sequencing ALDOB Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Fructose Intolerance, Mutations (A149P, A174D, N334K and del4E4) ALDOB Gene Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Fructose Intolerance , Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Reference Laboratory Genetics Hereditary Fructose Intolerance , Panel Massive Sequencing (NGS) ALDOB, FBP1 Genes that also includes the following genes: FBP1 ALDOB
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hereditary Fructose Intolerance Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Labor Dr. Wisplinghoff
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
planTrue Extended Panel
![](/img/flags/United-states.png)
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![](/img/flags/United-states.png)
Hereditary Fructose Intolerance: gene deletion/duplication Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Hereditary Fructose Intolerance: gene sequencing Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ALDOB gene.
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BUB1B KCNH1 SLC35A2 NOS3