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Genes: ARMC4, CFAP298, CFAP300, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH9, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, HYDIN, LRRC56, LRRC6, MCIDAS, NME8, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SPAG1, SPZ1, TTC25, ZMYND10
Interstitial lung disease
Genes: ABCA3, AP3B1, COPA, CSF2RA, CSF2RB, DKC1, ELMOD2, FLCN, FLNA, FOXF1, GATA2, GBA, HPS1, HPS4, IDUA, MARS, NAF1, NF1, NKX2-1, NPC2, OAS1, PARN, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, TMEM173, TSC1, TSC2, ZCCHC8
Pulmonary vascular disordersGenes: ACVRL1, BMPR1B, BMPR2, CA12, CAV1, COL1A1, COL3A1, EIF2AK4, ENG, FBN1, FOXF1, GDF2, KCNA5, KCNK3, RASA1, SMAD9
DNA extraction (if applicable) and ultrasonic fragmentation; targeted capture of the coding regions and intron/exon boundaries of protein coding RefSeq genes using a TWIST custom exome library capture; next generation sequencing (NGS) on an Illumina NovaSeq instrument; alignment to the human reference genome (GRCh37/hg19) using the Burrows-Wheeler Aligner (bwa); variant calling using GATK and detection of exonic deletions and duplications using ExomeDepth; Sanger sequencing to confirm low quality and/or complex indel variants related to the specified phenotype(s); Review of sequence and dosage data for the specified genes by multiple staff members; Variant classification following ACMG criteria (if applicable). Bioinformatic analysis was performed using DDL pipeline DDL.TWISTExome.v1.2020_12_22 and DDL.TWIST.Exome.Dosage.v1.2020_12_20.
Discrimination between multiple heritable disorders that can cause diffuse lung disease; identification of causative variants in complex cases that span multiple phenotypes; facilitation of targeted carrier or presymptomatic testing of relatives of proband and/or predictive prenatal testing.
The detection rate for the PulmZoom panel is undetermined at this point, due to ongoing research in the field.
Sequencing: >94% for single nucleotide and >76% for small insertion/deletion variants for the nucleotides evaluated. Exonic deletions/duplications: >97% for unique regions of the genome. This test is not validated to identify small deletions/insertions of greater than 20bp, exonic deletions and duplications in pseudogenes or other repetitive regions of the genome (e.g. segmental duplications), nucleotide repeat expansions, mitochondrial DNA variants or mosaicism. Disease-associated variants in regions that are not captured and/or sufficiently sequenced will not be detected by this assay.
3-6ml whole blood in EDTA (purple topped) tubes
Saliva collected in an appropriate collection device (Oragene®-DNA 500 or 600 device)
DNA extracted from fibroblast or lymphocyte cell line (must be extracted in a CLIA-certified laboratory)
Turn Around Time
Fee and CPT Codes
Exome Panel: $2915
CPT Code: 81479
*If you are a provider outside of Johns Hopkins we are only accepting institutional billing