ABCA3

OMIMHGNC

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

Locus: 16p13.3

Protein: ATP-binding cassette, sub-family A

 

Disorders

Tests

Test
ABCA3-related Pulmonary Surfactant Metabolism Dysfunction test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
ABCA3-related Surfactant Deficiency
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Childhood Intersitial Lung Disease Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 4-6 weeks
price: contact lab
Lung NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Neonatal Respiratory Distress Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Pulmonary Alveolar Proteinosis Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
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
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
TAT: 4-6 weeks
price: contact lab
Surfactant NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA