RNU4ATAC

OMIMHGNC

Synonym(s): RNU4ATAC1

Locus: 2q14.2

 

Disorders

Tests

Test Type
Molecular (25)
Multi-Gene Panel (17)
Multi-Method Panel (10)
Test Method
Del/Dup (CNV) (10)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (9)
Genotyping (Microarray, Beads, etc.) (1)
Sequencing, Next Gen (16)
Prenatal/Carrier
Prenatal (11)
Carrier (15)
Lab Location
USA(14)
Spain(3)
Portugal(1)
Germany(3)
United Kingdom(1)
Finland(3)
 
TAT: 2-3 weeks
price: contact lab
Microcephalic Osteodysplastic Primoridial Dwarfism, Type I Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: ASXL1, RECQL4, RNU4ATAC, SOX2
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 8-9 weeks
price: contact lab
Comprehensive Primordial Dwarfism Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Microcephalic Osteodysplastic Primordial Dwarfism Type 1, Sequencing RNU4ATAC Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Microcephalic osteodysplastic primordial dwarfism type I (sequence analysis of RNU4ATAC gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Microcephalic osteodysplastoic primordial dwarfism type 1
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 16-20 weeks
price: contact lab
Microcephalic Primordial Dwarfism
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MRC Human Genetics Unit, Laboratory of Andrew Jackson - Edinburgh, United Kingdom
TAT: 1-2 weeks
price: contact lab
Microcephalic Osteodysplastic Primordial Dwarfism, Type 1 (RNU4ATAC gene) Old Order Amish targeted mutation analysis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
Primordial Dwarfism (AKA MOPD) NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
Potentially lethal skeletal disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Primordial Dwarfism and Related Disorders, Panel Massive Sequencing (NGS) 12 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 Weeks
price: contact lab
Primordial Dwarfism 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
RNU4ATAC
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-4 weeks
price: $1,590.00
Microcephalic primordial dwarfism NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,150.00
Microcephalic primordial dwarfism NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,590.00
Microcephalic primordial dwarfism NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Short Stature Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
3-M Syndrome / Primordial Dwarfism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 2-4 weeks
price: $1,900.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,500.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $3,250.00
Spondylo-Epi-Metaphyseal dysplasias
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Microcephalic Osteodysplastic Primordial Dwarfism NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 1-2 weeks
price: contact lab
RNU4ATAC Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 3-4 weeks
price: contact lab
Microcephalic osteodysplastic primordial dwarfism type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany