Surfactant Dysfunction - Ambry Genetics

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Clinical Genomics

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Surfactant Dysfunction

Genetic disorders of surfactant dysfunction are lung disorders that can cause breathing problems that vary widely in severity. Often times, these concerns can impact infants immediately after birth; they can benefit from a quick and accurate diagnosis to help direct clinical care.

Surfactant Dysfunction Genetic Testing

Genetic disorders of surfactant dysfunction are lung disorders that can cause breathing problems that vary widely in severity. Often times, these concerns can impact infants immediately after birth; they can benefit from a quick and accurate diagnosis to help direct clinical care.

Our Surfactant Dysfunction panel includes Sanger Sequencing of ABCA3, SFTPB, and SFTPC. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. All the analyzed regions of the gene are amplified through polymerase chain reaction (PCR) and sequence alterations are identified by double-stranded sequencing from sense and anti-sense directions. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.

Genes analyzed

8100

Surfactant Dysfunction Panel

5-14 days

3 Genes

Surfactant Dysfunction Panel

3 Genes

ABCA3

SFTPB

SFTPC

Consent

Patient

Mutation Detection Rate

>99.9%

Surfactant dysfunction testing

can detect the described mutations in the included genes, when present (analytic sensitivity).*

Test Description

Our Surfactant Dysfunction panel includes Sanger Sequencing of ABCA3, SFTPB, and SFTPC. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. All the analyzed regions of the gene are amplified through polymerase chain reaction (PCR) and sequence alterations are identified by double-stranded sequencing from sense and anti-sense directions. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.