ALAS2

OMIMHGNC

Synonym(s): ASB

Locus: Xp11.21

Protein: 5-aminolevulinate synthase 2

 

Disorders

Tests

Test Type
Molecular (37)
Multi-Gene Panel (25)
Multi-Method Panel (13)
Test Method
Del/Dup (CNV) (16)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (13)
Sequencing, Next Gen (24)
Prenatal/Carrier
Prenatal (16)
Carrier (22)
Lab Location
Denmark(1)
Spain(4)
Portugal(1)
USA(19)
Germany(5)
Estonia(1)
Poland(1)
Canada(1)
Finland(4)
 
X-Linked Sideroblastic Anemia Test (ALAS2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Institute of Predictive and Personalized Medicine of Cancer, Diagnostics in Iron Metabolism Diseases (DIRON) - Badalona, Spain
X-Linked Protoporphyria
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
Porphyria Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 3-5 weeks
price: contact lab
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 9-11 weeks
price: contact lab
Comprehensive Mitochondrial Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Combined Mito Genome Plus Mito 139 Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 4 weeks
price: contact lab
ALAS2 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Next Gen 
Odense University Hospital, Department of Clinical Genetics - Odense, Denmark
TAT: contact lab
price: $1,502.00
Mitochondrial Disorders Multi-Gene Panel (Nuclear Genes)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Sideroblastic anemia, X-linked (sequence analysis of ALAS2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
X-Linked Protoporphyria (ALAS2 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Institute of Predictive and Personalized Medicine of Cancer, Diagnostics in Iron Metabolism Diseases (DIRON) - Badalona, Spain
TAT: 4-6 weeks
price: contact lab
Inherited Bone Marrow Failure Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
nucSEEK Focus
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
X-Linked Sideroblastic Anemia , Sequencing ALAS2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Porphyria: Sequencing panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 11-12 weeks
price: contact lab
ALAS2 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
ALAS2 Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 431 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
Porphyria Disorders (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
ALAS2
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: contact lab
Porphyria Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hematology Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Anemia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
X-linked Sideroblastic Anemia via the ALAS2 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $1,020.00
X-linked Sideroblastic Anemia via the ALAS2 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sideroblastic Anemia, Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Protoporphyria, erythropoietic, X-linked
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Anemia, sideroblastic, X-linked
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 7-8 weeks
price: contact lab
Bone marrow failure panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-6 weeks
price: contact lab
Porphyria Spotlight Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-5 weeks
price: $1,390.00
Chronic/Cutaneous Porphyria Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Chronic/Cutaneous Porphyria Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,390.00
Porphyria Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Porphyria Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA