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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH


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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