PSEN1

OMIMHGNC

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

Locus: 14q24.3

Protein: Presenilin-1

 

Disorders

Filter By:

Test Type
Molecular
Panel
Test Method
Sequencing, Next Gen
Sequencing, Capillary (Sanger)
Mutation Scanning of Entire Coding Region
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Mutation Scanning of Select Exons
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Finland
Germany
Poland
Spain
Turkey
United Kingdom
USA

Tests

Test
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
Alzheimer Disease Type 3 (PSEN1)
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Alzheimer Disease, Sequencing (APOE,PSEN1, PSEN2,APP16,APP17,A2M,TAU) Genes
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Alzheimer Disease, Sequencing Selected Exons PSEN1, PSEN2 Genes
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 3-4 weeks
price: $780.00
Alzheimer Disease, Familial via the PSEN1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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
TAT: 1-2 weeks
price: contact lab
Alzheimer disease, type 3 , PSEN1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Institut fur Laboratoriumsmedizin Berlin (IFLb) - Berlin, Germany
TAT: 5-6 weeks
price: $4,500.00
Cardiomyopathy (Comprehensive) Panel
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
TAT: 2-4 weeks
price: contact lab
Core Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 5-6 weeks
price: $3,500.00
Dilated Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
ApolloGen, Inc. - Irvine, CA, USA
TAT: 2-4 weeks
price: contact lab
Heart Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
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): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
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): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
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): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
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): ◦ Sequencing, Next Gen ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-8 weeks
price: contact lab
Paediatric Cardiomyopathy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory, Southmead Hospital, North Bristol NHS Trust - Bristol, United Kingdom
TAT: 2-4 weeks
price: contact lab
Pan Cardiomyopathy Panel
method(s): ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 4-6 weeks
price: contact lab
Parkinson-Alzheimer-Dementia NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
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: 6-7 weeks
price: contact lab
Sanger sequencing of the PSEN1 gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-6 weeks
price: contact lab
Sudden Death Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA