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Comprehensive Pulmonary NGS Panel

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Comprehensive Pulmonary NGS Panel

Key Information

Lab:

Molecular

TAT:

8 weeks

Price:

$3,500

CPT Code(s):

81443

Test Code:

DCPP

Order Form

Comprehensive Pulmonary NGS Panel

The Comprehensive Pulmonary NGS Panel is a 147-gene panel intended for patients with a diagnosis or clinical suspicion of an inherited pulmonary disorder.

ABCA3, ACD, ACVRL1, ASK7, ALMS1, AP3B1, AP3D1, AQP1, ASCL1, ATP13A3, BLOC1S3, BLOC1S6, BMPR1B, BMPR2, CAPNS1, CAV1, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP164, CFAP100, CFAP298, CFAP74, CFTR, CLCN6, COPA, CSF2RA, CSF2RB, CTC1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DOCK8, DRC1, ITGA3, DTNBP1, EFEMP2, EIF2AK4, ELMOD2, ELN, ENG, FAM111B, FARSB, FBLN5, FBN1, FGF10, FLCN, FLNA, FOXF1, GAA, GAS8, GATA2, GBA1, GDF2, GLA, GRHL2, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, INVS, KCNA5, KCNK3, KIF15, KLF2, LIG4, LRRC56, LTBP4, MAN2B1, MARS1, MCIDAS, MOCS1, MUC5B, MYO1H, NAF1, NALCN, NF1, NHP2, NKX2-1, NME8, NOP10, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PARN, PEPD, PHOX2B, PIK3CD, PIK3R1, POT1, PURA, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC34A2, SLC7A7, SMAD1, SMAD4, SMAD9, SMPD1, SOX17, SPAG1, STAT3, STING1, STRA6, S100, TBX4, TERC, TERT, TINF2, TSC1, TSC2, USB1, WRAP53, ZCCHC8, ZMYND10

  • DNAAF19 was previously CCDC103
  • DRC2 was previously CCDC65
  • DRC4 was previously GAS8

Alpha-mannosidosis, Alstrom syndrome, Alveolar capillary dysplasia with misalignment of pulmonary veins, Autoimmune interstitial lung\, joint\, and kidney disease, Birt-Hogg-Dube syndrome, Bronchiectasis, Childhood idiopathic pulmonary arterial hypertension, Childhood interstitial lung disease, Choreoathetosis\, hypothyroidism\, and neonatal respiratory distress, Chronic obstructive pulmonary disease, Central hypoventilation syndrome, Congenital contractures, Costello syndrome, Cutis laxa, Dyskeratosis congenita, Emphysema due to AAT deficiency, Fabry disease, Familial atrial fibrillation, Gaucher disease, Geleophysic dysplasia, Hereditary fibrosing poikiloderma with tendon contractures\, myopathy\, and pulmonary fibrosis, Hereditary hemorrhagic telangiectasia, Hermansky-Pudlak syndrome, Hyper-IgE recurrent infection syndrome, Idiopathic pulmonary fibrosis, Immunodeficiency, Infantile nephronophthisis, Interstitial lung and liver disease, Ischiocoxopodopatellar syndrome, Junctional epidermolysis bullosa, Juvenile polyposis, LIG4 syndrome, Lymphangioleiomyomatosis, Lysinuric protein intolerance, Marfan syndrome, Microphthalmia, Molybdenum cofactor deficiency, Mucociliary clearance disorder, Multiple morphological abnormalities of the sperm flagella, Nephronophthisis, Neurofibromatosis, Neuronal ceroid lipofuscinosis, Niemann-Pick disease, Orofaciodigital syndrome, Pompe disease\, glycogen storage disease type 2, Primary ciliary dyskinesia, Primary pulmonary hypertension, Primary spontaneous pneumothorax, Prolidase deficiency, Pseudohypoaldosteronism, Pulmonary alveolar microlithiasis, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary fibrosis, Pulmonary surfactant metabolism dysfunction, Pulmonary venoocclusive disease, Simpson-Golabi-Behmel syndrome, STING-associated vasculopathy with onset in infancy, Supravalvular aortic stenosis (SVAS), Susceptibility to chronic obstructive pulmonary disease, Tuberous sclerosis

Clinical Information

The comprehensive panel consists of 147 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.

Technical Information

This panel is performed by Next Generation Sequencing and covers the coding regions of the listed genes and the flanking intronic sequences. Promoter, 3′ untranslated sequences, and deep intronic sequences are also covered, but only known disease-causing variants in these regions will be reported. Variants identified on the panel are confirmed with Sanger sequencing if they do not meet certain quality thresholds.

Large deletions and duplications (CNVs) affecting the genes of the panel can be detected; however, due to defined settings in the analysis software, CNVs smaller than 2-kb may not be identified (for example, some small exonic level copy number changes may not be identified). Please note that certain types of genetic alterations including trinucleotide repeat expansions, methylation abnormalities, and balanced rearrangements (e.g., inversions, reciprocal translocations) may not be detected by the current analysis. Analysis of the MUC5B gene is limited to the c.-3133G>T promoter variant. Polyalanine expansion analysis is included for the PHOX2B gene for patients with a central hypoventilation phenotype.

Specimen Requirements

  • The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Blood and saliva kits are available by request.
  • Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
  • If saliva is submitted, and the extracted DNA is below quality control, then you will be contacted to submit a blood sample or the panel can be completed on an exome backbone. Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

  • The blood specimen should be kept at room temperature and delivered via overnight shipping. 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.
  • Extracted DNA should be sent at room temperature via overnight delivery.
  • Saliva is stable at room temperature and can be delivered via overnight or ground shipping.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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