ASXL1

OMIMHGNC

Synonym(s): KIAA0978

Locus: 20q11.21

Protein: ASXL1 protein

 

Disorders

Tests

Test Type
Molecular (23)
Cytogenetic (1)
Multi-Gene Panel (15)
Multi-Method Panel (5)
Test Method
Del/Dup (CNV) (3)
Multicolor FISH (M-FISH) / Spectral Karotyping (tm) (SKY (tm)) (1)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (15)
Prenatal/Carrier
Prenatal (3)
Carrier (7)
Lab Location
USA(10)
Spain(6)
Portugal(2)
Germany(3)
Finland(1)
Canada(1)
 
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
Analysis of Juvenile Myelomonocytic Leukemia; JMML
method(s): ◦ Multicolor FISH (M-FISH) / Spectral Karotyping (tm) (SKY (tm)) ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Bohring-Opitz Syndrome, Sequencing ASXL1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 1-2 weeks
price: contact lab
ASXL1 Mutation Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
TAT: 2-3 weeks
price: contact lab
NGS HemeOnc Panel
method(s): ◦ Sequencing, Next Gen 
Diagnostic Labs at BloodCenter of Wisconsin - Milwaukee, WI, USA
TAT: 2-3 weeks
price: contact lab
Hematopoietic Disorders Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Bohring-Opitz syndrome (sequence analysis of ASXL1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 8-9 weeks
price: contact lab
Myeloproliferative/myelodysplastic disorder (sequence analysis of ASXL1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Somatic Myelodysplastic Syndrome, Sequencing ASXL1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Hematologic Malignancy Mutation Panel
method(s): ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
OnkoSight AML Panel
method(s): ◦ Sequencing, Next Gen 
GenPath - Elmwood Park, NJ, USA
Somatic Myelodysplastic Syndrome, Sequencing Exon 13 ASXL1 Gene
method(s): ◦ Mutation Scanning of Select Exons 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
OnkoSight Myeloid Disorders Panel
method(s): ◦ Sequencing, Next Gen 
GenPath - Elmwood Park, NJ, USA
OnkoSight MDS Panel
method(s): ◦ Sequencing, Next Gen 
GenPath - Elmwood Park, NJ, USA
OnkoSight MPN Panel
method(s): ◦ Sequencing, Next Gen 
GenPath - Elmwood Park, NJ, USA
TAT: 4-5 Weeks
price: contact lab
ASXL1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
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 weeks
price: contact lab
Bohring-Opitz syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
Myelodysplastic Syndromes, Panel Deletions-Duplications (MLPA)
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Acute Myeloid Leukemia (Susceptibility to), Panel Massive Sequencing (NGS) 21 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada