Pneumothorax, Primary Spontaneous

Description

Birt-Hogg-Dube syndrome (BHD ), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance.Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (OMIM ) and the Ehlers-Danlos syndrome (see, e.g., {130000}). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (OMIM ).

Clinical Features

Phenotypes and symptoms related to Pneumothorax, Primary Spontaneous

  • Pica
  • Milia
  • Neoplasm
  • Skin rash
  • Ectopia lentis
  • Abnormality of the respiratory system
  • Abnormality of the pleura
  • Pneumothorax
  • Spontaneous pneumothorax

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Pneumothorax, Primary Spontaneous Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Renal Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

VHL, PTEN, WT1, SDHAF2, SDHC, FH, SDHB, SDHA, CDKN1C, SDHD, FLCN, MET, GPC3
Specificity
8 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory LabCorp in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, GPC3, MITF
Specificity
6 %
Genes
100 %
FLCN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

FLCN
Specificity
100 %
Genes
100 %
Cystic Lung Disease Panel (8 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

FBLN5, ELN, TSC2, TSC1, FLCN, SERPINA1, EFEMP2, LTBP4
Specificity
13 %
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
Specificity
2 %
Genes
100 %
Cancer Panel, Hereditary, Sequencing 46 Genes, Deletion/Duplication, 47 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Renal Hereditary Cancer Panel, Sequencing and Deletion/Duplication, 15 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

VHL, MSH2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, BAP1
Specificity
7 %
Genes
100 %
FLCN Gene Sequencing.

By GeneDx in United States.

FLCN
Specificity
100 %
Genes
100 %
Renal Cancer Panel.

By GeneDx in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
Genes
100 %
Hereditary Cancer Panel - Renal19.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF
Specificity
6 %
Genes
100 %
FLCN gene sequence and deletion/duplication.

By Ambry Genetics in United States.

FLCN
Specificity
100 %
Genes
100 %
CancerNext-Expanded.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, SDHA , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
CustomNext: Cancer.

By Ambry Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, RB1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
RenalNext.

By Ambry Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, BAP1
Specificity
6 %
Genes
100 %
FLCN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FLCN
Specificity
100 %
Genes
100 %
FLCN. Detection of the mutations c.1285delC y c.1285dupC by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome - FLCN Deletion/Duplication Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome - FLCN Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome - FLCN Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FLCN
Specificity
100 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Hereditary Kidney Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

VHL, MSH2, MSH6, MLH1, PTEN, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1, BAP1
Specificity
5 %
Genes
100 %
Pneumothorax Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
100 %
Pneumothorax Del/ Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
100 %
Pneumothorax Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

COL3A1, FBN1, FLCN, TGFBR1, TGFBR2
Specificity
20 %
Genes
100 %
Birt-Hogg-Dube syndrome (sequence analysis of FLCN gene).

By CGC Genetics in Portugal.

FLCN
Specificity
100 %
Genes
100 %
OncoRisk (NGS panel for 48 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH, SDHB, MEN1 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics in Portugal.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Renal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CHEK2, CDC73 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Birt-Hogg-Dube Syndrome via FLCN Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FLCN
Specificity
100 %
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
Specificity
5 %
Genes
100 %
Birt-Hogg-Dube syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FLCN
Specificity
100 %
Genes
100 %
Pneumothorax, primary spontaneous Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FLCN
Specificity
100 %
Genes
100 %
Pneumothorax, primary spontaneous Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FLCN
Specificity
100 %
Genes
100 %
Pneumothorax, primary spontaneous NGS Test.

By Connective Tissue Gene Tests in United States.

FLCN
Specificity
100 %
Genes
100 %
Renal cell carcinoma.

By Institute of Human Genetics Cologne University in Germany.

VHL, HNF1B, TSC2, TSC1, FLCN, MET, MAX, CDKN1B, DICER1, DIS3L2, WT1-AS
Specificity
10 %
Genes
100 %
Birt-Hogg-Dube syndrome.

By Institute of Human Genetics Cologne University in Germany.

FLCN
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Hereditary Renal Cancer panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

SDHC, FH, SDHB, SDHA, SDHD, FLCN, MET
Specificity
15 %
Genes
100 %
FLCN gene sequencing and deletion/duplication analysis for Birt-Hogg-Dube syndrome.

By Molecular Diagnostics Laboratory University Health Network in Canada.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome.

By MGZ Medical Genetics Center in Germany.

FLCN
Specificity
100 %
Genes
100 %
Hereditary Cancer Syndromes - panels.

By MGZ Medical Genetics Center in Germany.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Renal Cancer.

By MGZ Medical Genetics Center in Germany.

VHL, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, GPC3, CHEK2, SMARCB1, BAP1
Specificity
7 %
Genes
100 %
Thyroid Cancer.

By MGZ Medical Genetics Center in Germany.

APC, MUTYH, PTEN, RET, SDHC, SDHB, MEN1, ATM, STK11, SDHD, FLCN, CHEK2, DICER1
Specificity
8 %
Genes
100 %
Renal carcinoma chromophobe somatic.

By Centogene AG - the Rare Disease Company in Germany.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FLCN
Specificity
100 %
Genes
100 %
Renal carcinoma, chromophobe, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FLCN
Specificity
100 %
Genes
100 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FLCN
Specificity
100 %
Genes
100 %
CentoCancer panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, FH, BLM, ATM, NBN, PALB2, CDH1, STK11, CDK4, CDKN2A , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Colorectal cancer, somatic.

By Centogene AG - the Rare Disease Company in Germany.

FLCN
Specificity
100 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
Disorders associated with malignancy Panel.

By CeGaT GmbH in Germany.

MSH2, PMS2, MSH6, MLH1, PTEN, RECQL4, SDHB, BLM, TINF2, TSC2, TSC1, ATM, PTCH1, NF2, STK11, SDHD, FLCN, PRKAR1A, RTEL1, NF1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Colon Cancer Panel.

By CeGaT GmbH in Germany.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, NBN, STK11, FLCN, CHEK2, BMPR1A, SMAD4, POLD1, POLE, RINT1, AXIN1
Specificity
6 %
Genes
100 %
Renal cell carcinoma Panel.

By CeGaT GmbH in Germany.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, SDHAF2, HNF1B, SDHC, FH, SDHB, SDHA, TSC2, TSC1, PALB2, SDHD , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Cancer Predisposition.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
qCancer Risk Expanded.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, TSC2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Invitae Birt-Hogg-Dubé Syndrome Test.

By Invitae in United States.

FLCN
Specificity
100 %
Genes
100 %
Invitae Multi-Cancer Panel.

By Invitae in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Invitae Renal/Urinary Tract Cancers Panel.

By Invitae in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, FLCN, MET, GPC3, CDC73, SMARCA4 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Birt-Hogg-Dube syndrome: FLCN gene mutation analysis (c.1285delC / c.1285dupC).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube syndrome: FLCN gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dubé syndrome: FLCN gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FLCN
Specificity
100 %
Genes
100 %
COLON CANCER.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, PMS1, MSH3
Specificity
7 %
Genes
100 %
ONCOLOGY, PANEL.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, RB1, SDHAF2, RET, KIF1B, SDHC, FH, SDHB, TMEM127 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
FLCN - Gene Sequencing & Del/Dup analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome: FLCN Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome: FLCN Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FLCN
Specificity
100 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
Hereditary Cancer Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Cystic Lung Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, ELN, TSC2, TSC1, FLCN, SERPINA1, EFEMP2, LTBP4
Specificity
13 %
Genes
100 %
Renal Cancer: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, PTEN, WT1, FH, SDHB, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3
Specificity
10 %
Genes
100 %
Cystic Lung Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, ELN, TSC2, TSC1, FLCN, SERPINA1, EFEMP2, LTBP4
Specificity
13 %
Genes
100 %
Hereditary Cancer Syndrome: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Colon Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, CDH1, STK11, CDKN2A, FLCN, CHEK2, BMPR1A, SMAD4, PMS1, AXIN2, BUB1B, GALNT12 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cystic Lung Disease NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, ELN, TSC2, TSC1, FLCN, SERPINA1, EFEMP2, LTBP4
Specificity
13 %
Genes
100 %
Hereditary Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR, KIF1B , (...)

View the complete list with 92 more genes
Specificity
1 %
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
Specificity
2 %
Genes
100 %
Kidney Renal Cancer NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1
Specificity
6 %
Genes
100 %
Renal/Kidney NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, SDHD, FLCN, MET, CDC73, MITF , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
FLCN.

By Fulgent Genetics Fulgent Genetics in United States.

FLCN
Specificity
100 %
Genes
100 %
Comprehensive Cancer Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, TYR , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Renal / Urinary Cancer Comprehensive Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Cystic Lung Disease Panel.

By Blueprint Genetics in Finland.

FBLN5, ELN, TSC2, TSC1, FLCN, SERPINA1, EFEMP2, LTBP4
Specificity
13 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
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
Specificity
2 %
Genes
100 %
Hereditary Renal Cancer Panel.

By Blueprint Genetics in Finland.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Birt-Hogg-Dube syndrome.

By Bioarray in Spain.

FLCN
Specificity
100 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
BIRT-HOGG-DUBE SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FLCN
Specificity
100 %
Genes
100 %
PRIMARY SPONTANEOUS PNEUMOTHORAX.

By Laboratorio de Genetica Clinica SL in Spain.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome, Sequencing FLCN Gene.

By Reference Laboratory Genetics in Spain.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome, Mutation (c.1285delC/c.1285dupC) FLCN Gene.

By Reference Laboratory Genetics in Spain.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dub Syndrome, Deletions-Duplications (MLPA) FLCN Gene.

By Reference Laboratory Genetics in Spain.

FLCN
Specificity
100 %
Genes
100 %
Hereditary Colon Cancer , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, STK11, FLCN, BMPR1A, SMAD4, ENG, MSH3
Specificity
8 %
Genes
100 %
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes.

By Reference Laboratory Genetics in Spain.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, RB1, SDHAF2, RET, SDHC , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes.

By Reference Laboratory Genetics in Spain.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, HNF1A, WT1, HNF1B, FH, SDHB, TSC2, TSC1, SDHD, FLCN, MET, MITF, BAP1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Phosphorus Renal/Urinary Tract Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, SDHA, TSC2, TSC1, CDKN1C, SDHD, FLCN, MET, GPC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Phosphorus Pan-Cancer Panel.

By Phosphorus Diagnostics LLC in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, SDHC, FH , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Renal Cancer: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, MSH2, PMS2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Renal Cancer: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, MSH2, MSH6, MLH1, PTEN, TP53, WT1, SDHC, FH, SDHB, TSC2, TSC1, PALB2, CDKN1C, SDHD, FLCN, MET, GPC3, CDC73, SMARCB1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Birt-Hogg-Dube Syndrome: FLCN Gene Sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FLCN
Specificity
100 %
Genes
100 %
Birt-Hogg-Dube Syndrome: FLCN Gene Deletion/Duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FLCN
Specificity
100 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, MSH6, MLH1, MUTYH, PTEN, TP53, WT1, SDHAF2, RET, SDHC, FH, SDHB, TMEM127, MEN1, BLM , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %

Alternate names

Pneumothorax, Primary Spontaneous Is also known as psp;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREACHER COLLINS SYNDROME 2; TCS2 XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX STARGARDT DISEASE 1; STGD1 ACHONDROGENESIS, TYPE IA; ACG1A HAJDU-CHENEY SYNDROME; HJCYS MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A

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