PSEN1 gene related symptoms and diseases

All the information presented here about the PSEN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PSEN1 gene

Symptoms // Phenotype % Cases
Dementia Common - Between 50% and 80% cases
Neurofibrillary tangles Common - Between 50% and 80% cases
Personality changes Common - Between 50% and 80% cases
Dysphasia Uncommon - Between 30% and 50% cases
Alzheimer disease Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PSEN1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Frontotemporal dementia
  • Aphasia
  • Memory impairment
  • Dysgraphia
  • Mental deterioration
  • Cerebral cortical atrophy
  • Mutism
  • Disinhibition

And 157 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PSEN1 gene

Here you will find a list of rare diseases related to the PSEN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALZHEIMER DISEASE 4

Alternate names

ALZHEIMER DISEASE 4 Is also known as ad4, alzheimer disease, familial, 4

Description

Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.

Most common symptoms of ALZHEIMER DISEASE 4

  • Seizures
  • Tremor
  • Depressivity
  • Dementia
  • Myoclonus


More info about ALZHEIMER DISEASE 4

SOURCES: MESH OMIM

ALZHEIMER DISEASE 3; AD

Alternate names

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3, alzheimer disease 3, early-onset

Most common symptoms of ALZHEIMER DISEASE 3; AD

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


More info about ALZHEIMER DISEASE 3; AD

SOURCES: OMIM

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Alternate names

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc

Description

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

SOURCES: OMIM ORPHANET

CARDIOMYOPATHY, DILATED, 1U; CMD1U

Most common symptoms of CARDIOMYOPATHY, DILATED, 1U; CMD1U

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


More info about CARDIOMYOPATHY, DILATED, 1U; CMD1U

SOURCES: OMIM MESH

PICK DISEASE OF BRAIN

Alternate names

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions, lobar atrophy of brain

Description

Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

Most common symptoms of PICK DISEASE OF BRAIN

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


More info about PICK DISEASE OF BRAIN

SOURCES: MESH OMIM

FRONTOTEMPORAL DEMENTIA; FTD

Alternate names

FRONTOTEMPORAL DEMENTIA; FTD Is also known as mstd, frontotemporal dementia with parkinsonism, ftld with tau inclusions, ddpac, ftdp17, wilhelmsen-lynch disease, pallidopontonigral degeneration, frontotemporal lobar degeneration with tau inclusions, frontotemporal lobe dementia, disinhibition-dementia-parkins

Description

Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

Most common symptoms of FRONTOTEMPORAL DEMENTIA; FTD

  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dysphagia


More info about FRONTOTEMPORAL DEMENTIA; FTD

SOURCES: OMIM ORPHANET

SEMANTIC DEMENTIA

Alternate names

SEMANTIC DEMENTIA Is also known as semantic primary progressive aphasia, semantic variant ppa

Description

Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.

Most common symptoms of SEMANTIC DEMENTIA

  • Dementia
  • Neurological speech impairment
  • Brain atrophy
  • Aphasia
  • Dyslexia


More info about SEMANTIC DEMENTIA

SOURCES: ORPHANET

PROGRESSIVE NON-FLUENT APHASIA

Alternate names

PROGRESSIVE NON-FLUENT APHASIA Is also known as agramatic variant of primary progressive aphasia, agramatic variant of ppa, non-fluent variant ppa

Description

Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.

Most common symptoms of PROGRESSIVE NON-FLUENT APHASIA

  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Mental deterioration
  • Stroke


More info about PROGRESSIVE NON-FLUENT APHASIA

SOURCES: ORPHANET

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

Alternate names

EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE Is also known as early-onset familial autosomal dominant alzheimer disease, eofad, familial alzheimer disease

Description

Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

Most common symptoms of EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

  • Intellectual disability
  • Seizures
  • Ataxia
  • Hypertonia
  • Dementia


More info about EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE

SOURCES: ORPHANET

ACNE INVERSA, FAMILIAL, 3; ACNINV3

Description

Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see {142690}.

Most common symptoms of ACNE INVERSA, FAMILIAL, 3; ACNINV3

  • Acne
  • Recurrent cutaneous abscess formation
  • Acne inversa
  • Chronic furunculosis
  • Perifolliculitis


More info about ACNE INVERSA, FAMILIAL, 3; ACNINV3

SOURCES: OMIM

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Alternate names

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA Is also known as bv-ftd

Description

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

Most common symptoms of BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

  • Hyperreflexia
  • Gait disturbance
  • Behavioral abnormality
  • Aggressive behavior
  • Mental deterioration


More info about BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

SOURCES: ORPHANET


Potential gene panels for PSEN1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel
United States.

ADmark® PSEN1 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PSEN1 gene.

More info about this panel
United States.

ADmark® Early Onset Alzheimer's Evaluation Panel

United States.

By Athena Diagnostics Inc ADmark® Early Onset Alzheimer's Evaluation that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
United States.

Dementia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72

More info about this panel
United States.

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel
United States.

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel
United States.

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

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.

PSEN1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica APOE, APP, PSEN1, PSEN2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: APOE APP PSEN1 PSEN2

More info about this panel
Spain.

PSEN1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica ACTC1, DES, LDB3, MYH6, PSEN1, PSEN2, TCAP, TNNC1, TPM1, VCL. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TCAP TNNC1 TPM1 VCL ACTC1 LDB3 DES MYH6 PSEN1 PSEN2

More info about this panel
Spain.

PSEN1. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Alzheimer disease type 3 (deletion/duplication analysis on PSEN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PSEN1 gene.

More info about this panel
Portugal.

Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
Portugal.

Frontotemporal dementia (NGS panel for 13 genes) Panel

Portugal.

By CGC Genetics Frontotemporal dementia (NGS panel for 13 genes) that also includes the following genes: TARDBP TUBA4A UBQLN2 VCP CHCHD10 CSF1R CHMP2B FUS GRN HNRNPA1

More info about this panel
Portugal.

Alzheimer disease type 3 (sequence analysis of PSEN1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PSEN1 gene.

More info about this panel
Portugal.

Alzheimer disease (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease (NGS panel for 8 genes) that also includes the following genes: SNCA SNCB SORL1 APOE APP PRNP PSEN1 PSEN2

More info about this panel
Portugal.

Hereditary dementias (NGS panel for 28 genes) Panel

Portugal.

By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10

More info about this panel
Portugal.

Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
Portugal.

Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease type 1, 3 e 4 (deletions/duplications analysis of APP, PSEN1 and PSEN2 genes) that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
Portugal.

Presenilin exon 9 deletion analysis Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the PSEN1 gene.

More info about this panel
Poland.

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2

More info about this panel
United States.

Alzheimer's Disease, Familial via PSEN1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PSEN1 gene.

More info about this panel
United States.

Alzheimer Disease, Familial, Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Alzheimer Disease, Familial, Sequencing Panel with CNV Detection that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
United States.

Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dementia Sequencing Panel with CNV Detection that also includes the following genes: SQSTM1 TARDBP TYROBP UBQLN2 TREM2 CHMP2B C9orf72 FUS GRN APP

More info about this panel
United States.

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel
United States.

Alzheimer Disease Type 3 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel
Germany.

Alzheimer´s disease Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava Alzheimer´s disease that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
Czech Republic.

Pick disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Acne inversa familial type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Alzheimer disease type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Alzheimer dementia and dementia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Alzheimer dementia and dementia panel that also includes the following genes: SORL1 TREM2 APOE APP PRNP PSEN1 PSEN2

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.

Cardiomyopathy, dilated type 1U Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Acne inversa familial type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Dementia, frontotemporal Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel
United States.

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel
United States.

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel
Germany.

Frontotemporal Dementia (FTD) Panel Panel

Germany.

By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2

More info about this panel
Germany.

Alzheimer's disease Panel Panel

Germany.

By CeGaT GmbH Alzheimer's disease Panel that also includes the following genes: TBP VPS35 MARK4 NLGN1 CD33 TOMM40 ABCA7 APOE APP PSEN1

More info about this panel
Germany.

Dementia all Panel Panel

Germany.

By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4

More info about this panel
Germany.

Single gene testing PSEN1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Alzheimer disease Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Alzheimer disease that also includes the following genes: SORL1 TREM2 GRN APP PSEN1 PSEN2

More info about this panel
Poland.

Alzheimer Disease Type 3 (PSEN1) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Early-onset familial Alzheimer disease, PSEN1 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the PSEN1 gene.

More info about this panel
United States.

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

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
Spain.

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP

More info about this panel
Spain.

Cardiomyopathies Panel Panel

Spain.

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
Spain.

Cardiovascular Diseases_General Panel Panel

Spain.

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
Spain.

Arrhythmia General Panel Panel

Spain.

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
Spain.

Cardiomyopathies General Panel Panel

Spain.

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
Spain.

Alzheimer Disease Type 3 Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Test for Alzheimer Disease Type 3 Panel

Spain.

By Secugen SL

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Alzheimer Disease Type 3 Panel

Germany.

By ATG-GenMed ATG-GenMed

This panel specifically test the PSEN1 gene.

More info about this panel
Germany.

Invitae Hereditary Alzheimer's Disease Panel Panel

United States.

By Invitae Invitae Hereditary Alzheimer's Disease Panel that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
United States.

Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel

United States.

By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10

More info about this panel
United States.

Alzheimer (Presenilin 1 and 2): PSEN1 and PSEN2 genes sequence analysis (select exons) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer (Presenilin 1 and 2): PSEN1 and PSEN2 genes sequence analysis (select exons) that also includes the following genes: PSEN1 PSEN2

More info about this panel
Spain.

Alzheimer (Presenilin 1): PSEN1 gene sequence analysis ( exons 4-7, intron 8) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons) that also includes the following genes: APOE APP A2M PSEN1 PSEN2

More info about this panel
Spain.

Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons) that also includes the following genes: APOE APP MAPT A2M PSEN1 PSEN2

More info about this panel
Spain.

CARDIOMYOPATHY, DILATED (DCM Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CARDIOMYOPATHY, DILATED (DCM that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel
Spain.

PSEN1 - Gene Sequencing & Del/Dup analysis Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the PSEN1 gene.

More info about this panel
Netherlands.

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel
Netherlands.

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel
United States.

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS

More info about this panel
United States.

Sudden Death Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3

More info about this panel
United States.

Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
United States.

PSEN1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PSEN1 gene.

More info about this panel
United States.

Dementia Panel Panel

Finland.

By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R

More info about this panel
Finland.

Cardiomyopathy, dilated type 1U Panel

Spain.

By Bioarray

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Early-onset autosomal dominant Alzheimer disease Panel

Spain.

By Bioarray

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Alzheimer dementia (PSEN1 gene) Panel

Belgium.

By Diagnostic Service Facility University of Antwerp

This panel specifically test the PSEN1 gene.

More info about this panel
Belgium.

Comprehensive Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Cardiomyopathy Panel that also includes the following genes: SCN5A BMPR2 SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel
United States.

Dilated Cardiomyopathy Panel Panel

United States.

By ApolloGen, Inc. Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNI3 TNNT2 TPM1 VCL ACTC1

More info about this panel
United States.

Cardiomyopathy Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1

More info about this panel
United States.

FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2

More info about this panel
Spain.

ALZHEIMER DISEASE, EARLY- ONSET FAMILIAL Panel

Spain.

By Laboratorio de Genetica Clinica SL ALZHEIMER DISEASE, EARLY- ONSET FAMILIAL that also includes the following genes: APP PSEN1 PSEN2

More info about this panel
Spain.

DEMENTIA & ALZHEIMER: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DEMENTIA & ALZHEIMER: NGS PANEL that also includes the following genes: SORL1 TARDBP VCP TREM2 CSF1R CHMP2B FUS GRN APOE ITM2B

More info about this panel
Spain.

FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1

More info about this panel
Spain.

FRONTOTEMPORAL DEMENTIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FRONTOTEMPORAL DEMENTIA that also includes the following genes: TARDBP CHMP2B C9orf72 GRN MAPT PSEN1

More info about this panel
Spain.

Alzheimer Disease, Sequencing PSEN1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Alzheimer Disease , Sequencing Exons (4-7) Intron 8 PSEN1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Alzheimer Disease , Deletions-Duplications (MLPA) PSEN1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PSEN1 gene.

More info about this panel
Spain.

Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel
Spain.

Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: C9orf72 GRN APOE APP MAPT A2M PSEN1 PSEN2

More info about this panel
Spain.

Familial Alzheimer Disease Panel

Germany.

By Labor Dr. Wisplinghoff Familial Alzheimer Disease that also includes the following genes: APOE APP PSEN1

More info about this panel
Germany.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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