NGS Pulmonary Panels

 

Disorder Alstrom syndrome
Alveolar capillary dysplasia with misalignment of pulmonary veins
Birt-Hogg-Dube syndrome
Bronchiectasis with or without elevated sweat chloride
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Ciliary dyskinesia
Congenital Central hypoventilation syndrome
Cutis laxa
Cystic fibrosis
Dyskeratosis congenita
Hereditary Hemorrhagic Telangiectasia
Hermansky-Pudlak syndrome
Hyper-IgE recurrent infection syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Lymphangioleiomyomatosis
Orofaciodigital syndrome
Primary Pulmonary hypertension
Primary Spontaneous Pneumothorax
Pseudohypoaldosteronism
Pulmonary fibrosis
Simpson-Golabi-Behmel syndrome
Stromme syndrome
Surfactant metabolism dysfunction
Tuberous sclerosis
Clinical info

The comprehensive panel consists of 93 genes associated with a diverse and heterogeneous group of inherited pulmonary disorders. These disorders can be inherited as autosomal recessive, autosomal dominant, X-linked recessive, or X-linked dominant. However, the inheritance pattern for some of these conditions is uncertain, and many of them exhibit incomplete penetrance.

List of Genes and Associated Clinical Phenotypes for Comprehensive Panel

In addition to the comprehensive panel, four subpanels can also be requested when a more specific phenotype is present:

Arterial Hypertension Panel (11 genes)
Hermansky-Pudlak syndrome and Pulmonary Fibrosis Panel (25 genes)
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel (42 genes)
Surfactant dysfunction & respiratory distress in premature infants Panel (8 genes)

List of Genes and Associated Clinical Phenotypes for Subpanels

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Detection

The current design of the comprehensive panel covers the coding region for all 93 genes and the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors are available for further consultation regarding the limitations of the NGS and array testing procedures.

Associated Tests

The following genes can also be ordered as individual sequencing tests:

CFTR

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 8-10 weeks
Prenatal testing

If pathogenic mutation(s) are identified in an affected individual using this panel, prenatal diagnosis is available for future pregnancies. Sanger sequencing will be used for prenatal diagnosis when there is a known familial mutation. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

CPT Codes 81479
Cost

$3000 for Arterial Hypertension and Surfactant dysfunction & respiratory distress in premature infants Panel

$3,500 for all other panels

Insurance billing is available for this test. The Billing Form is required along with copies of the authorization or letter of agreement from the insurance company.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

NGS Panel Requisition Form

Please submit a completed Requisition Form with all samples.

 

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Molecular Diagnostic Lab Faculty

Clearing Div - do not delete (is not shown)