Respiratory Distress Syndrome In Premature Infants

Description

The main cause of respiratory distress syndrome (RDS) in premature infants is a developmental deficiency of pulmonary surfactant. The frequency of RDS is inversely proportional to gestational age. However, not all infants born prematurely develop RDS, suggesting that there may be susceptibility factors. Because multiple factors can contribute to the pathogenesis of RDS specifically in premature infants, the etiology is considered to be multifactorial (summaries by Ramet et al., 2000; Clark and Clark, 2005).Pathogenic germline mutations in several genes involved in surfactant metabolism, including SFTPB (OMIM ) and SFTPC (OMIM ), can cause clinical features of respiratory distress syndrome in term neonates, children, and adults, disorders referred to as 'surfactant metabolism dysfunction' (see, e.g., SMDP1, {265120}). Susceptibility to the development of RDS in premature infants may be associated with polymorphisms in surfactant genes, such as surfactant protein A1 (SFTPA1 ), SFTPB, and SFTPC (see MOLECULAR GENETICS).

Genes related to Respiratory Distress Syndrome In Premature Infants

SFTPB
ABCA3
SFTPC

Clinical Features

Phenotypes and symptoms related to Respiratory Distress Syndrome In Premature Infants

Respiratory distress
Premature birth
Neonatal respiratory distress
Tachypnea
Atelectasis
Pulmonary edema
Disseminated intravascular coagulation

Incidence and onset information

— Based on the latest data available Respiratory Distress Syndrome In Premature Infants have a estimated prevalence of 20 per 100k worldwide.

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Respiratory Distress Syndrome In Premature Infants Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...) View the complete list with 73 more genes Panel GTR000556317 complete gene list INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, SMAD4, ENG, SERPINA1, SLC7A7, RTEL1, SCNN1A, SCNN1G, SCNN1B, OFD1, EDN3, DKC1, BLOC1S6, TERC, ACVRL1, BMPR1B, DNAH8, ELMOD2, DNAH1, MCIDAS, TERT, SFTPD, TTC25, DNAJB13, GAS8, RSPH3, PARN, CENPF, CCDC151, CCNO, DOCK8, GDF2, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1 Specificity 4 % Genes 100 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, RTEL1, DKC1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, PARN, CSF2RA, MUC5B, NKX2-1 , (...) View the complete list with 5 more genes Panel GTR000556371 complete gene list DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, RTEL1, DKC1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, PARN, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1 Specificity 12 % Genes 100 %
Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. FOXF1, SLC7A7, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB Specificity 38 % Genes 100 %
Diffuse Lung Disease NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. HPS1, HPS4, AP3B1, FOXF1, TINF2, SLC7A7, DKC1, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 Specificity 19 % Genes 100 %
Pulmonary Alveolar Proteinosis NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. FOXF1, SLC7A7, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB Specificity 38 % Genes 100 %
Neonatal Respiratory Distress NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. FOXF1, NKX2-1, ABCA3, SFTPC, SFTPB Specificity 60 % Genes 100 %
Basic Fibrosis Panel (12 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1 Specificity 25 % Genes 100 %
PulmoGene Panel (64 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...) View the complete list with 44 more genes Panel GTR000509127 complete gene list FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, NF1, SCNN1A, SCNN1G, SCNN1B, EDN3, BLOC1S6, TERC, ACVRL1, ELMOD2, TERT, SFTPD, DOCK8, RSPH1, SMAD9, CSF2RA, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1, BDNF, ASCL1, GDNF Specificity 5 % Genes 100 %
Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 , (...) View the complete list with 1 more genes Panel GTR000509128 complete gene list DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, BLOC1S6, TERC, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1 Specificity 15 % Genes 100 %
Surfactant Dysfunction Panel. By Ambry Genetics in United States. ABCA3, SFTPC, SFTPB Specificity 100 % Genes 100 %
SFTPB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SFTPB Specificity 100 % Genes 34 %
Neonatal Respiratory Distress Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA Specificity 13 % Genes 67 %
Neonatal Respiratory Distress Seq + Del/ Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA Specificity 13 % Genes 67 %
Neonatal Respiratory Distress Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. JAG1, FOXF1, GATA2, SLC7A7, FLNA, DKC1, MARS, TERC, TERT, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPB, NOTCH2, COPA Specificity 13 % Genes 67 %
Comprehensive Pulmonary-Vascular Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...) View the complete list with 45 more genes Panel GTR000553478 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN Specificity 4 % Genes 67 %
Comprehensive Pulmonary-Vascular Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...) View the complete list with 44 more genes Panel GTR000553479 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN Specificity 4 % Genes 67 %
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...) View the complete list with 44 more genes Panel GTR000553502 complete gene list INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN Specificity 4 % Genes 67 %
Pulmonary surfactant metabolism dysfunction (NGS panel for 7 genes). By CGC Genetics in Portugal. SFTPD, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, SFTPA1 Specificity 43 % Genes 100 %
Pulmonary surfactant metabolism dysfunction 1 (sequence analysis of SFTPB gene). By CGC Genetics in Portugal. SFTPB Specificity 100 % Genes 34 %
Surfactant protein B, Surfactant protein C. By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India. SFTPC, SFTPB Specificity 100 % Genes 67 %
Surfactant Protein B Deficiency via the SFTPB Gene. By PreventionGenetics PreventionGenetics in United States. SFTPB Specificity 100 % Genes 34 %
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TERC, ELMOD2, TERT, SFTPD, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2 Specificity 30 % Genes 100 %
Interstitial Lung Disease Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC , (...) View the complete list with 4 more genes Panel GTR000556382 complete gene list SMPD1, HPS1, HPS4, STAT3, CFTR, TINF2, TSC2, TSC1, FLCN, SLC7A7, RTEL1, NF1, DKC1, TERC, TERT, PARN, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, ITGA3, SLC34A2 Specificity 13 % Genes 100 %
Surfactant metabolism dysfunction panel. By Centogene AG - the Rare Disease Company in Germany. SFTPD, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, SFTPA1 Specificity 43 % Genes 100 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH Specificity 1 % Genes 100 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH Specificity 1 % Genes 100 %
Surfactant metabolism dysfunction type 1. By Centogene AG - the Rare Disease Company in Germany. SFTPB Specificity 100 % Genes 34 %
Comprehensive pulmonary disease panel. By Centogene AG - the Rare Disease Company in Germany. FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B , (...) View the complete list with 46 more genes Panel GTR000552605 complete gene list FBLN5, RET, ELN, DTNBP1, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, RTEL1, SCNN1A, SCNN1G, SCNN1B, EDN3, DKC1, BLOC1S6, TERC, ACVRL1, ELMOD2, TERT, SFTPD, PARN, DOCK8, RSPH1, SMAD9, CSF2RA, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1, NOP10, BDNF, ASCL1, GDNF Specificity 5 % Genes 100 %
Single gene testing SFTPB. By CeGaT GmbH in Germany. SFTPB Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction, pulmonary, 1:SFTPB gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SFTPB Specificity 100 % Genes 34 %
Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TERC, TERT, SFTPD, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2, DMBT1, FOXA2, FOXA1 Specificity 24 % Genes 100 %
SFTPB - Gene sequencing. By Genome Diagnostics VU University Medical Center in Netherlands. SFTPB Specificity 100 % Genes 34 %
Pulmonary Disease: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1 , (...) View the complete list with 33 more genes Panel GTR000512610 complete gene list FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A, SCNN1G, SCNN1B, EDN3, BLOC1S6, ACVRL1, ELMOD2, TERT, SFTPD, DOCK8, SMAD9, CSF2RA, EFEMP2, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, BDNF, ASCL1, GDNF Specificity 6 % Genes 100 %
Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DTNBP1, HPS1, BLOC1S3, HPS6, HPS4, HPS3, AP3B1, BLOC1S6, ELMOD2, TERT, SFTPD, CSF2RA, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA1 Specificity 18 % Genes 100 %
Interstitial Lung Disease: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TERT, CSF2RA, CSF2RB, ABCA3, SFTPC, SFTPB, NKX1-1 Specificity 43 % Genes 100 %
Interstitial Lung Disease: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TERT, CSF2RA, ABCA3, SFTPC, SFTPB Specificity 60 % Genes 100 %
Lung Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A , (...) View the complete list with 31 more genes Panel GTR000509435 complete gene list FBLN5, RET, ELN, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, CFTR, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, SCNN1A, SCNN1G, SCNN1B, EDN3, BLOC1S6, TERC, ACVRL1, TERT, SMAD9, EFEMP2, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1, BDNF, ASCL1, GDNF Specificity 6 % Genes 100 %
Surfactant NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ABCA3, SFTPC, SFTPB Specificity 100 % Genes 100 %
SFTPB. By Fulgent Genetics Fulgent Genetics in United States. SFTPB Specificity 100 % Genes 34 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B Specificity 2 % Genes 100 %
Hermansky-Pudlak Syndrome Panel. By Blueprint Genetics in Finland. TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, DKC1, BLOC1S6, LYST, TERC, TERT, ABCA3 , (...) View the complete list with 3 more genes Panel GTR000552669 complete gene list TYRP1, OCA2, SLC45A2, TYR, GPR143, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, AP3B1, TINF2, DKC1, BLOC1S6, LYST, TERC, TERT, ABCA3, SFTPC, SFTPB, AP3D1 Specificity 14 % Genes 100 %
Comprehensive Pulmonology Panel. By Blueprint Genetics in Finland. FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7 , (...) View the complete list with 46 more genes Panel GTR000552734 complete gene list FBLN5, RET, ELN, SMPD1, MECP2, HPS1, HPS4, CCDC39, CHAT, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, CHRNE, SERPINA1, SLC7A7, RTEL1, RAPSN, SCN4A, NF1, SCNN1A, SCNN1B, COLQ, CHRNA1, CHRND, CHRNB1, ZEB2, EDN3, DKC1, TERC, ELMOD2, DNAH1, TERT, GAS8, RSPH3, PARN, CSF2RA, EFEMP2, CSF2RB, DNAL1, CCDC40, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, SFTPB, DNAI1, SFTPA2, SFTPA1, ITGA3, GLRA1, SLC6A5, PIH1D3, SLC34A2 Specificity 5 % Genes 100 %
Interstitial Lung Disease Panel. By Blueprint Genetics in Finland. SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC , (...) View the complete list with 5 more genes Panel GTR000552741 complete gene list SMPD1, HPS1, HPS4, STAT3, TINF2, TSC2, TSC1, SLC7A7, RTEL1, NF1, DKC1, TERC, ELMOD2, TERT, PARN, CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB, SFTPA2, SFTPA1, ITGA3, SLC34A2 Specificity 12 % Genes 100 %
Neonatal Respiratory Distress - Surfactant Dysfunction Panel. By Blueprint Genetics in Finland. FOXF1, NKX2-1, ABCA3, SFTPC, SFTPB Specificity 60 % Genes 100 %
Surfactant metabolism dysfunction, pulmonary, type 1. By Bioarray in Spain. SFTPB Specificity 100 % Genes 34 %
INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION). By Laboratorio de Genetica Clinica SL in Spain. ABCA3, SFTPC, SFTPB Specificity 100 % Genes 100 %
Pulmonary Surfactant Metabolism Dysfunction Type 1 , Sequencing SFTPB Gene. By Reference Laboratory Genetics in Spain. SFTPB Specificity 100 % Genes 34 %
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes. By Reference Laboratory Genetics in Spain. TERC, TERT, CSF2RA, CSF2RB, MUC5B, ABCA3, SFTPC, SFTPB, SFTPA2 Specificity 34 % Genes 100 %
Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. CSF2RA, CSF2RB, NKX2-1, ABCA3, SFTPC, SFTPB Specificity 50 % Genes 100 %
Arterial Hypertension Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SMAD4, ENG, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2 Specificity 10 % Genes 34 %
Idiopathic Pulmonary Fibrosis NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. HPS1, HPS4, AP3B1, TINF2, DKC1, TERC, TERT, NKX2-1, ABCA3, SFTPC, SFTPA2 Specificity 19 % Genes 67 %
Childhood Interstitial Lung Disease Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. NKX2-1, ABCA3, SFTPC Specificity 67 % Genes 67 %
Pulmonary Arterial Hypertension Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SMAD4, ENG, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, KCNA5, ABCA3, BMPR2 Specificity 10 % Genes 34 %
ABCA3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCA3 Specificity 100 % Genes 34 %
Pulmonary Surfactant Metabolism Dysfunction (sequence analysis of ABCA3 gene). By CGC Genetics in Portugal. ABCA3 Specificity 100 % Genes 34 %
Pulmonary surfactant metabolism dysfunction (deletions/duplications analysis of ABCA3 gene). By CGC Genetics in Portugal. ABCA3 Specificity 100 % Genes 34 %
Pulmonary surfactant metabolism dysfunction (deletions/duplications analysis of ABCA3 gene). By CGC Genetics in Portugal. ABCA3 Specificity 100 % Genes 34 %
Surfactant Deficiency via the ABCA3 Gene. By PreventionGenetics PreventionGenetics in United States. ABCA3 Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction type 3. By Centogene AG - the Rare Disease Company in Germany. ABCA3 Specificity 100 % Genes 34 %
Single gene testing ABCA3. By CeGaT GmbH in Germany. ABCA3 Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction, pulmonary, 3:ABCA3 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ABCA3 Specificity 100 % Genes 34 %
ABCA3. By Fulgent Genetics Fulgent Genetics in United States. ABCA3 Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction, pulmonary, type 3. By Bioarray in Spain. ABCA3 Specificity 100 % Genes 34 %
Pulmonary Surfactant Metabolism Dysfunction Type 3 , Sequencing ABCA3 Gene. By Reference Laboratory Genetics in Spain. ABCA3 Specificity 100 % Genes 34 %
SFTPC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SFTPC Specificity 100 % Genes 34 %
SFTPC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SFTPC Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction pulmonary 2 (sequence analysis of SFTPC gene). By CGC Genetics in Portugal. SFTPC Specificity 100 % Genes 34 %
Surfactant Protein C Deficiency via SFTPC Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SFTPC Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction type 2. By Centogene AG - the Rare Disease Company in Germany. SFTPC Specificity 100 % Genes 34 %
Single gene testing SFTPC. By CeGaT GmbH in Germany. SFTPC Specificity 100 % Genes 34 %
Pulmonary fibrosis, idiopathic: SFTPC gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SFTPC Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction, pulmonary, 2:SFTPC gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SFTPC Specificity 100 % Genes 34 %
SFTPC. By Fulgent Genetics Fulgent Genetics in United States. SFTPC Specificity 100 % Genes 34 %
Chronic respiratory distress with surfactant metabolism deficiency. By Bioarray in Spain. SFTPC Specificity 100 % Genes 34 %
Pulmonary fibrosis, idiopathic. By Bioarray in Spain. SFTPC Specificity 100 % Genes 34 %
Surfactant metabolism dysfunction, pulmonary, type 2. By Bioarray in Spain. SFTPC Specificity 100 % Genes 34 %
Idiopathic Pulmonary Fibrosis , Sequencing SFTPC Gene. By Reference Laboratory Genetics in Spain. SFTPC Specificity 100 % Genes 34 %

Alternate names

Respiratory Distress Syndrome In Premature Infants Is also known as rds of prematurity, hyaline membrane disease, formerly;hyaline membrane disease; infant ards; infant respiratory distress syndrome; neonatal respiratory distress syndrome.

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