PMM2 gene related symptoms and diseases
All the information presented here about the PMM2 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 PMM2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Amblyopia | Very Common - Between 80% and 100% cases |
Pericardial effusion | Very Common - Between 80% and 100% cases |
Premature ovarian insufficiency | Very Common - Between 80% and 100% cases |
Lipodystrophy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PMM2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoalbuminemia
- Hypergonadotropic hypogonadism
- Truncal ataxia
- Insulin resistance
- Hepatic fibrosis
- Nephrotic syndrome
- Atrophy/Degeneration affecting the brainstem
- Pigmentary retinopathy
And 74 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PMM2 gene
Here you will find a list of rare diseases related to the PMM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PMM2-CDG
Alternate names
PMM2-CDG Is also known as jaeken syndrome, cdg-ia, cdg ia, cdg syndrome type ia, cdg1a, carbohydrate-deficient glycoprotein syndrome, type ia, formerly, carbohydrate deficient glycoprotein syndrome type ia, congenital disorder of glycosylation type 1a, phosphomannomutase 2 deficiency, cdgi
Description
PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
Most common symptoms of PMM2-CDG
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PMM2-CDG
Search interest in PMM2
Potential gene panels for PMM2 gene
MitoMet®Plus aCGH Analysis Panel
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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)
PMM2 Sequence Analysis (Prenatal Diagnosis) Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
PMM2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
PMM2 Deletion/Duplication Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
PMM2 Sequence Analysis Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation Panel Panel
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By Baylor Miraca Genetics Laboratories Congenital Disorders of Glycosylation Panel that also includes the following genes: SLC35A1 ALG9 ALG1 ATP6V0A2 COG7 COG8 ALG12 SLC35C1 ALG3 ALG6
More info about this panel![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Female) Panel
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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
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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)
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel
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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 panel![](/img/flags/United-states.png)
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel
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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 panel![](/img/flags/United-states.png)
Non-immune Hydrops Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation, type 1a Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
Neuromuscular Disorders Panel Panel
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By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panel![](/img/flags/United-states.png)
Comprehensive Mitochondrial Metabolic Panel Panel
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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![](/img/flags/United-states.png)
Comprehensive Neuromuscular Panel Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation Panel
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By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Disorders of Glycosylation that also includes the following genes: SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panel![](/img/flags/United-states.png)
Comprehensive Familial Hyperinsulinism Panel Panel
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By Genetic Services Laboratory University of Chicago Comprehensive Familial Hyperinsulinism Panel that also includes the following genes: SLC16A1 HNF1A UCP2 KDM6A GCK GLUD1 HADH HNF4A ABCC8 INSR
More info about this panel![](/img/flags/United-states.png)
Ataxia Exome Panel Panel
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By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel![](/img/flags/United-states.png)
Lymphedema NGS Multi-Gene Panel (36 Genes) Panel
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By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
PMM2. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Disorders of Glycosylation type 1a (sequence analysis of PMM2 gene) Panel
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By CGC Genetics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital disorders of glycosylation (NGS panel for 39 genes) Panel
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By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital disorder of glycosylation type Ia (deletion/duplication analysis on PMM2 gene) Panel
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By CGC Genetics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital disorder of glycosylation type Ia (deletion/duplication analysis on PMM2 gene) Panel
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By CGC Genetics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Ia, Ib, and Ic) with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Ia, Ib, and Ic) with CNV Detection that also includes the following genes: ALG6 MPI PMM2
More info about this panel![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation, Type Ia (CDG-Ia) via PMM2 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panel![](/img/flags/United-states.png)
Hypertrophic cardiomyopathy - different panels Panel
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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 panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Mental retardation - different panels Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hereditary kidney disorders - different panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Disorders of Glycosylation (CDG) Panel
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By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Disorders of Glycosylation Sequential Panel 1 Panel
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By FirmaLab Congenital Disorders of Glycosylation Sequential Panel 1 that also includes the following genes: ALG6 SRD5A3 MPI PMM2
More info about this panel![](/img/flags/United-states.png)
PMM2 Panel
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By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
AllNeuro panel Panel
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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
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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
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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)
Glycosylation disorder type 1A Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Disorders of Glycosylation (CDG) Panel Panel
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By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Ataxia and differential diagnoses Panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Congenital Disorders of Glycosylation (CDG) Panel Panel
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By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing PMM2 Panel
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By CeGaT GmbH
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Carbohydrate-deficient glycoprotein syndrome type I Panel
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By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Greece.png.pagespeed.ce.UQjKBJJtAQ.png)
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Skeletal Myopathy Panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Cardiomyopathies Panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hypertrophic Cardiomyopathy Extended Panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Cardiovascular Diseases_General Panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Skeletal myopathy Panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Arrhythmia General Panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Hypertrophic cardiomyopathy extended panel Panel
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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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Cardiomyopathies General Panel Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
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 panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Family Prep Screen Panel
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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
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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)
Invitae Congenital Disorders of Glycosylation Panel Panel
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By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2
More info about this panel![](/img/flags/United-states.png)
Invitae Phagocyte Defects Panel Panel
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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![](/img/flags/United-states.png)
Glycosylation congenital disorder type 1a: PMM2 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital disorder of multiple glycosylation (CDG) Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of multiple glycosylation (CDG) that also includes the following genes: SEC23B SLC35A1 COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital disorder of N-linked glycosylation (CDG) Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of N-linked glycosylation (CDG) that also includes the following genes: ALG9 ALG1 ALG12 ALG3 ALG6 ALG2 ALG8 MOGS DDOST DPAGT1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Disorder of Glycosylation Ia: PMM2 Gene Sequencing Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
Congenital Disorder of Glycosylation Ia: PMM2 Gene Deletion/Duplication Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel![](/img/flags/United-states.png)
Congenital Disorders of Glycosylation: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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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)
Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP
More info about this panel![](/img/flags/United-states.png)
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel
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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 panel![](/img/flags/United-states.png)
Congenital Disorder of Glycosylation Type 1a (PMM2) Panel
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By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Comprehensive Panel
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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)
Congenital Disorders of Glycosylation NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: RPN2 SEC23B SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7
More info about this panel![](/img/flags/United-states.png)
Epilepsy NGS Panel Panel
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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![](/img/flags/United-states.png)
Neuromuscular NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1
More info about this panel![](/img/flags/United-states.png)
PMM2 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy NGS Panel Panel
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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![](/img/flags/United-states.png)
KidneySeq - 264 Genes Panel
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By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel![](/img/flags/United-states.png)
Arthrogryposes Panel Panel
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By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Congenital Disorders of Glycosylation Panel Panel
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By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Metabolism Panel Panel
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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)
Ciliopathy Panel Panel
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By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Congenital disorder of glycosylation type Ia Panel
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By Bioarray
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
CONGENITAL DISORDERS OF GLYCOSYLATION Panel
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By Laboratorio de Genetica Clinica SL CONGENITAL DISORDERS OF GLYCOSYLATION that also includes the following genes: ALG3 ALG6 MPI PGM1 PMM2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ATAXIA OF JAEKEN, CEREBELLAR ( JAEKEN SYNDROME) Panel
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By Laboratorio de Genetica Clinica SL
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Disorders of Glycosylation, Sequencing PMM2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the PMM2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel
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By Reference Laboratory Genetics Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SEC23B COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12 SLC35C1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
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By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
planTrue Extended Panel
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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)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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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)
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