POLR3A

OMIMHGNC

Synonym(s): RPC1, RPC155, hRPC155

Locus: 10q22.3

Protein: DNA-directed RNA polymerase III subunit RPC1

 

Disorders

Tests

Test Type
Molecular (36)
Multi-Gene Panel (30)
Multi-Method Panel (10)
Test Method
Del/Dup (CNV) (7)
Mutation Scanning of Entire Coding Region (4)
Sequencing, Capillary (Sanger) (6)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (33)
Prenatal/Carrier
Prenatal (9)
Carrier (15)
Lab Location
Spain(5)
USA(6)
Canada(5)
Portugal(2)
Germany(9)
Poland(3)
Finland(2)
Austria(4)
 
TAT: 2-3 weeks
price: contact lab
POL III Related Leukodystrophies Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
TAT: 12-13 weeks
price: contact lab
NGS of 55 genes: SOD1, TARDBP, TMEM67, VAPB, VLDLR. ABCB7, ABHD12, ADCK3, ALS2, ANG, ATCAY, ATM, ATR, CA8, CEP290, C10orf2, COQ2, COQ9, CYP27A1, DNAJC19, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FIG4, FLVCR1, FMR1, FUS, GJC2, GPR56, HSPD1, ITM2B, KCNJ10, K
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 of 4 genes: GJC2, HSPD1, POLR3A, PLP
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 POLR3A gene
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Entire Coding Region 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 38 genes: ABCD1, ARSA,ASPA,CSF1R,EIF2B1 ,EIF2B2,EIF2B3,EIF2B4,EIF2B5,FAM126A,GALC,GFAP, GJ C2,HSPD1,MLC1,NOTCH3,PEX1,PEX2,PEX3,PEX5,PEX6,PEX7 ,PEX10,PEX12,PEX13,PEX14, PEX26,PLP1,POLR3A,PSAP,R NASEH2A,RNASEH2B,RNASEH2C,SAMHD1,SDHA,SOX10,SUMF1, TREX
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
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
Brain Development Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Pol III-Related Leukodystrophy (4H leukodystrophy)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Montreal Children's Hospital Research Institute, Pediatric Neurodegenerative Laboratory - Westmount, QC, Canada
TAT: 3-5 weeks
price: contact lab
Epilepsy and Hypomyelination
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Epilepsy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Brain Malformations / Neuronal Migration Disorders
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukencephalopathy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Leukodystrophy hypomyelinating (NGS panel for 3 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing POLR3A
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Leukodystrophies, Panel Massive Sequencing (NGS) 58 genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 8-10 weeks
price: contact lab
Comprehensive Neurogenetics Panel (290 genes)
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 2-4 weeks
price: contact lab
Comprehensive Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 102 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Non-Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 53 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
POLR3A
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukoencephalopathy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Leukodystrophy and Leukoencephalopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
Leukoencephalopathy (Leukenzephalopathie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Leukodystrophy, hypomyelinating (Hypomyelinisierende Leukodystrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Metachromatic Leukodystrophy (Metachromatische Leukodystrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Pelizaeus Merzbacher disease (Pelizaeus-Merzbacher-Krankheit)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 8-10 weeks
price: contact lab
Progressive and non-progressive ataxia
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks
price: contact lab
Developmental regression/dementia/psychosis panel
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks
price: contact lab
Leukodystrophy panel
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: ~2 weeks
price: contact lab
Leukodystrophy hypomyelinating type 7
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany