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Neonatal Respiratory Distress Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13349 ABCA3 81479,81479 Order Options and Pricing
FOXF1 81479,81479
NKX2-1 81479,81479
SFTPB 81479,81479
SFTPC 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13349Genes x (5)81479 81479(x10) $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Neonatal Respiratory Distress syndrome (RDS) is a relatively common breathing disorder that affects newborns. RDS occurs most often in preterm neonates. Less often, RDS can affect full term newborns. As the most common cause of respiratory distress in premature infants, RDS occurs in about 24,000 infants born in the United States annually. RDS is caused by a lack of surfactant, which is a foamy substance that helps the lungs fill with air and keeps the air sacs from deflating. Without enough surfactant, the lungs collapse and the newborn has difficulty in breathing. Symptoms include expiratory grunting, rapid and shallow breathing, sharp pulling inward of the muscles between the ribs when breathing, nasal flaring, cyanosis and apnea. RDS usually happens in the first 24 hours after birth, potentially requiring mechanical ventilation or positive end-expiratory pressure (PEEP) (Yadav et al. 2020. PubMed ID: 32809614).

Pathogenic variants in the ABCA3, SFTPB, SFTPC, NKX2-1 and FOXF1 genes have been reported to be causative for pulmonary epithelial cell and surfactant dysfunction (Somaschini et al. 2018. PubMed ID: 29255193; Thorwarth et al. 2014. PubMed ID: 24714694; Pradhan et al. 2019. PubMed ID: 31199666). Surfactant protein (SP-B) deficiency (SFTPB) and ABCA3-related surfactant deficiency (ABCAD3) present as severe and often fatal lung disease in neonates. Surfactant protein (SP-C) deficiency (SFTPC) can present with chronic interstitial lung disease (ILD) in term newborns, children and adults, with a small percentage present with neonatal respiratory distress. RDS is a common symptom in NKX2-1-related disorders, and patients may also have choreoathetosis and congenital hypothyroidis. Pathogenic variants in FOXF1 cause congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), and infants with ACDMPV often develop respiratory distress with persistent pulmonary hypertension.

Genetic testing is helpful in the differential diagnosis of genetic-related surfactant deficiency from developmental surfactant deficiencies, generalized or localized infection, cardiac disorders with obstructed pulmonary venous return, and other respiratory distress syndromes (Hamvas. 2006. PubMed ID: 17142157).

Genetics

While prematurity is a major cause of RDS, neonatal RDS can also be due to genetic abnormalities with lung development. RDS may be inherited in an autosomal recessive manner through pathogenic variants in the ABCA3 or SFTPB genes, and an autosomal dominant manner through pathogenic variants in the SFTPC, NKX2-1and FOXF1 genes (Hamvas. 2006. PubMed ID: 17142157). A wide range of genetic variants, including missense, nonsense, splicing variants, small deletions/insertions, and exonic deletions have been reported in all these genes. De novo variants were frequently found in SFTPC, NKX2-1 and FOXF1 genes (Somaschini et al. 2018. PubMed ID: 29255193; Thorwarth et al. 2014. PubMed ID:24714694; Pradhan et al. 2019. PubMed ID: 31199666).

See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 337 infants with severe respiratory disease, 20.5% were reported to have pathogenic variants in the SFTPB (14%), ABCA3 (4.7%) or SFTPC (1.8%) genes (Shulenin et al. 2004. PubMed ID: 15044640). In a study of 101 probands with choreoathetosis, congenital hypothyroidism, neonatal respiratory distress syndrome, 27 patients were found to have NKX2-1 pathogenic variants, including 17 point mutations (~17%) and 10 deletions (~10%) (Thorwarth et al. 2014. PubMed ID: 24714694). Pathogenic variants in FOXF1 were reported in 70%-96% of patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (Sen et al. 2013. PubMed ID: 23505205; Pradhan et al. 2019. PubMed ID: 31199666).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Individuals with histopathology, radiography and symptoms indicative of Neonatal Respiratory Distress syndrome (RDS).

Genes

Official Gene Symbol OMIM ID
ABCA3 601615
FOXF1 601089
NKX2-1 600635
SFTPB 178640
SFTPC 178620
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Name
PGxome®
Interstitial Lung Disease Panel
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel
Surfactant Deficiency via the ABCA3 Gene
Surfactant Protein B Deficiency via the SFTPB Gene
Surfactant Protein C Deficiency via the SFTPC Gene

Citations

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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