ITPR1

OMIMHGNC

Synonym(s): Insp3r1, IP3R1, ACV, PPP1R94, SCA15, SCA16, SCA29

Locus: 3p26.1

Protein: Inositol 1,4,5-trisphosphate receptor type 1

 

Disorders

Tests

Test Type
Molecular (13)
Panel (9)
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) (1)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (3)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (9)
Prenatal/Carrier
Prenatal (2)
Carrier (4)
Lab Location
Spain(6)
USA(3)
Portugal(3)
Poland(1)
 
TAT: 12-13 weeks
price: contact lab
Hereditary Neuropathies: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 7-8 weeks
price: contact lab
NGS of 13 genes: AFG3L2, BEAN, CACNA1A, FGF14, IFRD1, ITPR1, KCNC3, PDYN, PLEKHG4, PRKCG, SPTBN2, TGM6, TTBK2.
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 30 genes: ADCK3, AFG3L2, ANO10, APTX, BEAN, CACNA1A, CACNB4, FGF14, FXN, IFRD1, ITPR1, KCNA1, KCNC3, MTP, MTPAP, PDYN, PIK3R5, PLEKHG4, PRKCG, SACS, SETX, SLC1A3, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TTBK2, TTPA, ZNF592
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS and Sanger sequencing of the ITPR1 gene
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 11-12 weeks
price: contact lab
NuclearMitome
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 12-13 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 6-8 weeks
price: contact lab
Ataxia NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology - Porto, Portugal
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
Ataxia Related Disorders, Panel Massive Sequencing (NGS) 36 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Spinocerebellar ataxia 15 (SCA15, sequence analysis of ITPR1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Spinocerebellar ataxia type 15 (SCA15, deletions/duplications on ITPR1 gene)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Spinocerebellar Ataxia Type 15/16 , Sequencing ITPR1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Ataxia
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain

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