ABCA3

OMIMHGNC

Synonym(s): ABC-C, EST111653, LBM180, ABC3

Locus: 16p13.3

Protein: ATP-binding cassette, sub-family A

 

Disorders

Tests

Test Type
Molecular (22)
Panel (13)
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) (7)
Linkage Analysis (1)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (14)
Sequencing, Next Gen (14)
Prenatal/Carrier
Prenatal (5)
Carrier (2)
Lab Location
Korea, Republic of(1)
USA(14)
Spain(3)
Portugal(1)
France(1)
Germany(1)
Poland(1)
 
TAT: 4-8 weeks
price: contact lab
Pulmonary Surfactant Metabolism Dysfunction Test
method(s): ◦ Linkage Analysis ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
ABCA3-related Pulmonary Surfactant Metabolism Dysfunction test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 12-13 weeks
price: contact lab
Pulmonary Disease: Comprehensive Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
ABCA3-related Surfactant Deficiency
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Neonatal Respiratory Distress Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Pulmonary Alveolar Proteinosis Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Childhood Intersitial Lung Disease Panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the ABCA3 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Pulmonary Surfactant Metabolism Dysfunction Type 3 , Sequencing ABCA3 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
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
Pulmonary surfactant metabolism dysfunction (sequence analysis of ABCA3 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
ABCA3 - Surfactant Metabolism Dysfunction, Pulmonary
method(s): ◦ Sequencing, Capillary (Sanger) 
Hopital Trousseau - Assistance Publique des Hopitaux de Paris, U.F. de Genetique Moleculaire - Paris, France
Surfactant Metabolism Dysfunction, Pulmonary, 3:ABCA3 gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 2 Weeks
price: contact lab
ABCA3
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Clinical Exome
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Lung Disorders
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Single Gene
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Surfactant
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 6-8 weeks
price: contact lab
PulmoGene Panel (64 Genes)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks
price: contact lab
Basic Fibrosis Panel (12 Genes)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 6-8 weeks
price: contact lab
Pulmonary Fibrosis-Hermansky-Pudlak Panel (21 Genes)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA

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