PSEN1

OMIMHGNC

Synonym(s): FAD, S182, PS1, AD3

Locus: 14q24.3

Protein: Presenilin-1

 

Disorders

Tests

Test Type
Molecular (64)
Panel (40)
Test Method
Del/Dup (CNV) (13)
Linkage Analysis (1)
Mutation Scanning of Select Exons (2)
Mutation Scanning of Entire Coding Region (6)
Sequencing, Capillary (Sanger) (21)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (2)
Sequencing, Next Gen (42)
Prenatal/Carrier
Prenatal (10)
Carrier (20)
Lab Location
Greece(2)
Germany(9)
Poland(4)
Turkey(1)
Spain(11)
Finland(3)
Portugal(5)
Belgium(1)
USA(23)
United Kingdom(1)
Canada(3)
Estonia(1)
 
TAT: 4 weeks
price: contact lab
Dilated Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
TAT: 4 weeks
price: contact lab
Comprehensive Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
TAT: 1-2 weeks
price: contact lab
Alzheimer disease, type 3 , PSEN1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Institut fur Laboratoriumsmedizin Berlin (IFLb) - Berlin, Germany
Alzheimer Disease 3 Test (the PSEN1 gene - selected fragments - exons: 5-8)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 2-3 weeks
price: contact lab
Alzheimer Disease, PSEN1 Genetic Analysis, Alzheimer Type 3
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Alzheimer Disease Type 3 (PSEN1)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the PSEN1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 12-13 weeks
price: contact lab
NGS of 90 genes: PSEN1, PSEN2, PTPN11, RAF1, RBM20, RPSA, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, AGL, ANK2, AN
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 13-15 weeks
price: contact lab
NGS of 154 genes, ABCA1, ABCC6, ABCC9, ACTA2, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNE4, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A..
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 44 genes: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKTN, FKRP, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 44 genes: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKTN, FKRP, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: contact lab
PSEN1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 2-4 weeks
price: contact lab
Pan Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 2-4 weeks
price: contact lab
Core Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 2-4 weeks
price: contact lab
Heart Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 6-8 weeks
price: contact lab
Paediatric Cardiomyopathy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
Alzheimer Disease, Sequencing Selected Exons PSEN1, PSEN2 Genes
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Barcelona, Spain
Alzheimer Disease, Screening Frequent Mutations (APOE,PSEN1, PSEN2,APP, A2M, MAPT) Genes
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Alzheimer Disease, Sequencing Exons (4-7) Intron 8 PSEN1 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Barcelona, Spain
Alzheimer Disease, Sequencing PSEN1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Cardiac Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Alzheimer disease type 3 (sequence analysis of PSEN1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Alzheimer disease type 3 (deletion/duplication analysis on PSEN1 gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Alzheimer Disease, Deletions-Duplications (MLPA) PSEN1 Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 3-4 weeks
price: contact lab
Alzheimer disease, type 3 - PSEN1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 5-6 weeks
price: contact lab
Hereditary Dementias Multi-Gene NGS Panel
method(s): ◦ Linkage Analysis ◦ Sequencing, Next Gen 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
Alzheimer Dementia (PSEN1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Diagnostic Service Facility (DSF) - Antwerp, Belgium
TAT: 3-5 weeks
price: contact lab
Alzheimer Disease Type 3 Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Frontotemporal Dementia (FTD) Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Alzheimer's Disease Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Dementia all Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
Alzheimer disease (NGS panel for 8 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Alzheimer disease types 1, 3 and 4 (sequence analysis of APP, PSEN1 and PSEN2 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Single gene testing PSEN1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Dystonia: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Alzheimer and dementia: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-8 weeks
price: $1,300.00
Comprehensive Neurogenetics Panel (359 genes)
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
Cardiovascular disease panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 7-8 weeks
price: $1,320.00
Amyotrophic Lateral Sclerosis NextGen DNA Sequencing Panel (27 Genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,520.00
Amyotrophic Lateral Sclerosis NextGen DNA Sequencing Panel (27 Genes) + C9orf72 Repeat Expansion
method(s): ◦ Sequencing, Next Gen ◦ Repeat Expansion / Contraction 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,995.00
Comprehensive Cardiomyopathy NextGen DNA Screening Panel (130 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,995.00
Comprehensive Dementia NextGen DNA Screening Panel (97 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $2,195.00
Comprehensive Dementia NextGen DNA Screening Panel (97 genes) + C9orf72 Repeat Expansion
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,995.00
Comprehensive Dystonia NextGen DNA Screening Panel (90 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 6-8 weeks
price: $1,995.00
Alzheimer Disease/Frontotemporal Dementia NextGen DNA Sequencing Panel (55 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $2,195.00
Alzheimer Disease/Frontotemporal Dementia NextGen DNA Sequencing Panel (55 genes) + C9orf72 Repeat Expansion
method(s): ◦ Sequencing, Next Gen ◦ Repeat Expansion / Contraction 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,995.00
Parkinson disease/Parkinsonism NextGen DNA Screening Panel (89 genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
TAT: 7-8 weeks
price: $1,540.00
Spastic Paraplegia NextGen DNA Sequencing Panel (57 Genes)
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories/Medical Neurogenetics - Atlanta, GA, USA
Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 3-5 weeks
price: $1,290.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $780.00
Alzheimer's Disease, Familial via the PSEN1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 weeks
price: $1,540.00
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $690.00
Alzheimer's Disease, Familial via the PSEN1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: contact lab
price: $1,201.00
Frontotemporal Dementia
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 4-6 weeks
price: $1,440.00
Alzheimer Disease, Familial, NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $770.00
Alzheimer Disease, Familial, Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-6 Weeks
price: contact lab
Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Parkinson-Alzheimer-Dementia NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
PSEN1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Sudden Death Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-8 weeks
price: contact lab
Alzheimer's Disease
method(s): ◦ Sequencing, Capillary (Sanger) 
GenoMed-Diagnosticos de Medicina Molecular, SA - Lisboa, Portugal

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