UBA1

OMIMHGNC

Synonym(s): UBE1X, POC20, CFAP124, A1S9T, GXP1, UBE1

Locus: Xp11.3

Protein: Ubiquitin-like modifier-activating enzyme 1

 

Disorders

Tests

Test Type
Molecular (34)
Multi-Gene Panel (25)
Multi-Method Panel (10)
Test Method
Del/Dup (CNV) (11)
Mutation Scanning of Select Exons (2)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (6)
Sequencing, Next Gen (29)
Prenatal/Carrier
Prenatal (6)
Carrier (14)
Lab Location
Spain(7)
Portugal(2)
USA(11)
Germany(9)
Poland(3)
Finland(1)
Austria(1)
 
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: ATP7A, IGHMBP2, PLEKHG5, UBA1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
X-Linked Spinal Muscular Atrophy , Sequencing UBA1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
X-Linked Spinal Muscular Atrophy , Sequencing Exon 15 UBA1 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
X-linked Spinal Muscular Atrophy
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
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
Neuromuscular Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Spinal muscular atrophy, X-linked, infantile (SMA, sequence analysis of UBA1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Neuromuscular Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Spinal Muscular Atrophy, X-linked Infantile: UBA1 gene sequence analysis (exon 15)
method(s): ◦ Mutation Scanning of Select Exons 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Newborn: “Floppy Infant “
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Muscle Weakness (Myopathy, Muscular Dystrophy)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
Spinal Muscular Atrophy, X-Linked Infantile Test
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Spinal Muscular Atrophy (SMA) Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Spinal Muscular Atrophy Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 8-9 weeks
price: contact lab
Spinal muscular atrophy (NGS panel for 21 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Comprehensive Muscular Dystrophy/Myopathy (NextGen Sequencing Panel and Copy Number Analysis; 407 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
Fetal Akinesia, Arthrogryposis, or Contractures (NextGen Sequencing Panel and Copy Number Analysis; 153 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Spinal Muscular Atrophy (NextGen Sequencing Panel and Copy Number Analysis; 19 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Spinal Muscular Atrophy and related Disorders,l Panel Massive Sequencing (NGS) 19 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-6 Weeks
price: contact lab
Neuromuscular 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
UBA1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
Motor Neuron Disorder and Related Diseases, Panel Massive Sequencing (NGS) 49 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Spinal Muscular Atrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
Spinal muscular atrophy (Spinale Muskelatrophie)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Muscle Polyneuropathies, Panel Massive Sequencing (NGS) 112 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 8-10 weeks
price: contact lab
NGS Neuromuscular Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Hereditary Motor Neuropathy Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Neuropathies Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 4-6 weeks
price: contact lab
Neuromuscular Comprehensive Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-4 weeks
price: contact lab
Spinal Muscular Atrophy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA