MVK gene related symptoms and diseases
All the information presented here about the MVK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MVK gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Porokeratosis | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Cutaneous photosensitivity | Uncommon - Between 30% and 50% cases |
| Aciduria | Uncommon - Between 30% and 50% cases |
| Retinal dystrophy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with MVK gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Lymphadenopathy
- Skin rash
- Hepatosplenomegaly
- Arthralgia
- Abdominal pain
- Neoplasm
- Splenomegaly
- Diarrhea
And 141 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MVK gene
Here you will find a list of rare diseases related to the MVK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MEVALONIC ACIDURIA
Alternate names
MEVALONIC ACIDURIA Is also known as mva, complete mevalonate kinase deficiency
Description
Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
Most common symptoms of MEVALONIC ACIDURIA
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MEVALONIC ACIDURIA
HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER
Alternate names
HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever, hyper-igd syndrome, hyperimmunoglobulinemia d and periodic fever syndrome, partial mevalonate kinase deficiency, hids, periodic fever, dutch type, hyperimmunoglobulinemia d syndrome
Description
Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
Most common symptoms of HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER
POROKERATOSIS OF MIBELLI
Alternate names
POROKERATOSIS OF MIBELLI Is also known as porokeratosis of mibelli
Description
Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.
Most common symptoms of POROKERATOSIS OF MIBELLI
- Short stature
- Neoplasm
- Diabetes mellitus
- Hyperkeratosis
- Carcinoma
More info about POROKERATOSIS OF MIBELLI
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS
Alternate names
DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS Is also known as porokeratosis, disseminated superficial actinic, 2, dsap2
Description
Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
Most common symptoms of DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS
- Carcinoma
- Pruritus
- Cutaneous photosensitivity
- Squamous cell carcinoma
- Porokeratosis
More info about DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS
POROKERATOSIS 3, MULTIPLE TYPES; POROK3
Alternate names
POROKERATOSIS 3, MULTIPLE TYPES; POROK3 Is also known as porokeratosis, disseminated superficial actinic, 1, dsap1
Description
Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial.Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis.The preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.'Disseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012).For a discussion of genetic heterogeneity of porokeratosis, see {175800}.
Most common symptoms of POROKERATOSIS 3, MULTIPLE TYPES; POROK3
- Nail dystrophy
- Parakeratosis
- Porokeratosis
More info about POROKERATOSIS 3, MULTIPLE TYPES; POROK3
Search interest in MVK
Potential gene panels for MVK gene
Non-immune Hydrops Panel Panel
United States.
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 United States.
Retinitis Pigmentosa Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
MVK 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 MVK gene.
More info about this panel United States.
MVK 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 MVK gene.
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
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 United States.
MVK Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the MVK gene.
More info about this panel Germany.
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
Mevalonic aciduria 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 MVK gene.
More info about this panel Czech Republic.
MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TNFRSF1A NLRP3 MEFV MVK
More info about this panel Spain.
MVK. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MVK gene.
More info about this panel Spain.
MVK. Detection of the mutations p.Val377Ile by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MVK gene.
More info about this panel Spain.
Hiper IgD syndrome (sequence analysis of MVK gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MVK gene.
More info about this panel Portugal.
Hyper IgD Syndrome (deletion/duplication analysis of MVK gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MVK gene.
More info about this panel Portugal.
Hyper IgD Syndrome (deletion/duplication analysis of MVK gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MVK gene.
More info about this panel Portugal.
Mevalonicaciduria Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the MVK gene.
More info about this panel Netherlands.
Hyper IgD Syndrome Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the MVK gene.
More info about this panel Netherlands.
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Hyper IgD Syndrome/Mevalonate Aciduria via MVK Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the MVK gene.
More info about this panel United States.
Periodic Fever Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Periodic Fever Syndromes Sequencing Panel with CNV Detection that also includes the following genes: TNFAIP3 TNFRSF1A LPIN2 IL36RN NLRP3 CARD14 NLRP12 ELANE NOD2 MEFV
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
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 Germany.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Periodic Fever Syndromes Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Periodic Fever Syndromes that also includes the following genes: TNFRSF1A MEFV MVK
More info about this panel Argentina.
Hyper IgD Syndrome Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the MVK gene.
More info about this panel Germany.
Hyper IgD syndrome Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the MVK gene.
More info about this panel Germany.
MVK Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the MVK gene.
More info about this panel Netherlands.
Autoinflammatory panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2
More info about this panel Netherlands.
Mevalonic aciduria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MVK gene.
More info about this panel Germany.
Porokeratosis 3, disseminated superficial actinic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MVK gene.
More info about this panel Germany.
Mevalonic aciduria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MVK gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel 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.
Hyper IgD Syndrome Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the MVK gene.
More info about this panel Italy.
Hyper-IgD syndrome Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the MVK gene.
More info about this panel Germany.
Single gene testing MVK Panel
Germany.
By CeGaT GmbH
This panel specifically test the MVK gene.
More info about this panel Germany.
Autoinflammatory diseases Panel Panel
Germany.
By CeGaT GmbH Autoinflammatory diseases Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 CARD14 NLRP12 SLC29A3 HFE
More info about this panel Germany.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Hyper-IgD syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MVK gene.
More info about this panel Austria.
Mevalonic aciduria Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MVK gene.
More info about this panel Austria.
Porokeratosis 3, disseminated superficial actinic Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the MVK gene.
More info about this panel Austria.
MVK Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the MVK gene.
More info about this panel Austria.
Hyperimmunoglobulin D with periodic fever Panel
Denmark.
By Department of Clinical Immunology Odense University Hospital
This panel specifically test the MVK gene.
More info about this panel Denmark.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Hyper-IgD syndrome Panel
Slovakia.
By MedGene
This panel specifically test the MVK gene.
More info about this panel Slovakia.
Mevalonic aciduria Panel
Slovakia.
By MedGene
This panel specifically test the MVK gene.
More info about this panel Slovakia.
Porokeratosis 3, disseminated superficial actinic Panel
Slovakia.
By MedGene
This panel specifically test the MVK gene.
More info about this panel Slovakia.
Mevalonate Kinase Deficiency Panel
United States.
By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute
This panel specifically test the MVK gene.
More info about this panel United States.
Invitae Periodic Fever Syndromes Panel Panel
United States.
By Invitae Invitae Periodic Fever Syndromes Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 TRNT1 ADA2 NLRP12 ELANE MEFV MVK
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 Autoinflammatory Syndromes Panel Panel
United States.
By Invitae Invitae Autoinflammatory Syndromes Panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN RBCK1 NLRP3 NLRC4 CARD14 TRNT1 ADA2
More info about this panel United States.
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
United States.
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panel United States.
Hyper-IgD syndrome (HIDS): MVK gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MVK gene.
More info about this panel Spain.
Hyper-IgD syndrome (HIDS): MVK gene sequence analysis (exons 2, 9, 11) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the MVK gene.
More info about this panel Spain.
Periodic fever syndromes Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Periodic fever syndromes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
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.
Hereditary Periodic Fever Syndromes: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Sequencing Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
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.
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
Periodic Fevers Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Periodic Fevers Syndrome NGS Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel United States.
MVK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MVK 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.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Autoinflammatory Syndrome Panel Panel
Finland.
By Blueprint Genetics Autoinflammatory Syndrome Panel that also includes the following genes: TNFAIP3 TNFRSF1A TREX1 ACP5 NLRP1 LPIN2 IL36RN SAMHD1 NLRP3 NLRC4
More info about this panel Finland.
Congenital Diarrhea Panel Panel
Finland.
By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3
More info about this panel Finland.
Retinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel Finland.
Hyperimmunoglobulinemia D with periodic fever Panel
Spain.
By Bioarray
This panel specifically test the MVK gene.
More info about this panel Spain.
Periodic Fever NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Periodic Fever NGS and Deletion/Duplication Panel that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panel United States.
MVK Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the MVK gene.
More info about this panel United States.
HYPER-IgD SYNDROME (MEVALONIC ACIDURIA) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the MVK gene.
More info about this panel Spain.
PERIODIC FEVER-APHTOUS STOMATITIS-PHARYNGITIS-ADENOPATHY Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC FEVER-APHTOUS STOMATITIS-PHARYNGITIS-ADENOPATHY that also includes the following genes: NLRP3 MEFV MVK
More info about this panel Spain.
PERIODIC FEVER Panel
Spain.
By Laboratorio de Genetica Clinica SL PERIODIC FEVER that also includes the following genes: TNFRSF1A LPIN2 NLRP3 NLRC4 NLRP12 ELANE NOD2 MEFV MVK PSTPIP1
More info about this panel Spain.
Hyper IgD and Periodic Fever Syndrome, Sequencing MVK Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MVK gene.
More info about this panel Spain.
Hyper IgD and Periodic Fever Syndrome, Sequencing Exons (2,9,11) MVK Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the MVK gene.
More info about this panel Spain.
Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TNFRSF1A NLRP3 NOD2 MEFV MVK PSTPIP1
More info about this panel Spain.
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TNFRSF1A LPIN2 NLRP3 ELANE MEFV MVK PSTPIP1
More info about this panel Spain.
Hyperimmunoglobulin D with periodic fever Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the MVK gene.
More info about this panel Germany.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel Canada.
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