Marfan Lipodystrophy Syndrome; Mfls

Description

Marfan lipodystrophy syndrome is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013).Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (OMIM ) and Shprintzen-Goldberg craniosynostosis syndrome (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Marfan Lipodystrophy Syndrome; Mfls

  • Growth delay
  • Failure to thrive
  • Ptosis
  • Abnormal facial shape
  • Hypertension
  • Intrauterine growth retardation
  • Downslanted palpebral fissures
  • Myopia
  • Macrocephaly
  • Hydrocephalus
And another 38 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Marfan Lipodystrophy Syndrome; Mfls Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FBN1
Specificity
100 %
Genes
100 %
FBN1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FBN1
Specificity
100 %
Genes
100 %
FBN1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

FBN1
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

ALPL, FKBP10, B4GALT7, IFITM5, COL1A1, COL1A2, COL3A1, SLC34A1, TNFRSF11A, FBN1, SERPINF1, SP7, PLOD3, SLC39A13, SLC9A3R1, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FBLN5, COL1A1, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
5 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Marfan syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FBN1
Specificity
100 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Marfan Syndrome.

By Center for Human Genetics, Inc in United States.

FBN1
Specificity
100 %
Genes
100 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, COL5A1, COL5A2, FLNA, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, MYH11, PRKG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Thoracic aortic aneurysms and aortic dissection - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
Marfan syndrome - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

FBN1
Specificity
100 %
Genes
100 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

COL3A1, FBN1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
Marfan syndrome - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada.

FBN1
Specificity
100 %
Genes
100 %
FBN1 genomic sequencing and deleltion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

FBN1
Specificity
100 %
Genes
100 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

COL3A1, FBN1, PLOD3, CBS, SMAD4, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Marfan Syndrome and Loeys-Dietz Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, TGFB3
Specificity
17 %
Genes
100 %
Marfan Syndrome - FBN1 Gene.

By Center for Genetics at Saint Francis Saint Francis Hospital in United States.

FBN1
Specificity
100 %
Genes
100 %
Cardiomyopathy Panel.

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

TTR, GAA, COL3A1, EYA4, DSP, CRYAB, RAF1, FBN1, SCO2, TAZ, COX15, SURF1, CBS, FXN, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders Panel.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis.

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

RECQL4, ALPL, FBN1, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, MSX2, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, WDR19, ALX4, EFNB1, ASXL1, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Familial Aneurysm and Aortopathy.

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

B4GALT7, COL1A1, COL1A2, COL3A1, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome and Related Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
FBN1 Deletion/Duplication Analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome and MFS Related Disorders Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
Thoracic Aortic Aneurysm Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

COL3A1, FBN1, CBS, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
8 %
Genes
100 %
FBN1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FBN1
Specificity
100 %
Genes
100 %
Congenital Generalized Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

FBN1, CAVIN1, BSCL2, CAV1, KCNJ6, AGPAT2
Specificity
17 %
Genes
100 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
100 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, POLD1, AKT2, ADRA2A, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6, AGPAT2
Specificity
6 %
Genes
100 %
Congenital Generalized Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

FBN1, CAVIN1, BSCL2, CAV1, KCNJ6, AGPAT2
Specificity
17 %
Genes
100 %
FBN1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

FBN1
Specificity
100 %
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 %
Marfan Syndrome, FBN1 Del/Dup.

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

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome, FBN1 Seq, Del/Dup.

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

FBN1
Specificity
100 %
Genes
100 %
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes.

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

COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Marfan Syndrome (FBN1) Sequencing.

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

FBN1
Specificity
100 %
Genes
100 %
Marfan/TAAD Sequencing Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Marfan Syndrome/TAAD Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
100 %
Marfan/TAAD Sequencing & Del/Dup Panel.

By GeneDx in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Connective Tissue Disorders Panel.

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

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TTR, COL3A1, EYA4, JAG1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, FXN, COL5A1, COL5A2, DMD, GLA, PLOD1, PTPN11, SMAD4, FKTN, LMNA , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
FBN1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

FBN1
Specificity
100 %
Genes
100 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Marfan-Syndrome.

By Human Genetics University Hospital Bern in Switzerland.

FBN1
Specificity
100 %
Genes
100 %
TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS.

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

ELN, FBN1, TGFBR1, TGFBR2, FBN2, ACTA2, TGFBR3
Specificity
15 %
Genes
100 %
FBN1, TGFBR2. NextGeneDx.Complete sequencing by NGS.

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

FBN1, TGFBR2
Specificity
50 %
Genes
100 %
FBN1, TGFBR1, TGFBR2. NextGeneDx.Complete sequencing by NGS.

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

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
FBN1. Complete sequencing.

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

FBN1
Specificity
100 %
Genes
100 %
FBN1. MLPA testing.

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

FBN1
Specificity
100 %
Genes
100 %
FBN1. Complete sequencing.

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

FBN1
Specificity
100 %
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 %
Marfan Seq + Del/Dup Analysis.

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

FBN1
Specificity
100 %
Genes
100 %
Marfan Del/Dup Analysis.

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

FBN1
Specificity
100 %
Genes
100 %
Marfan Seq Analysis.

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

FBN1
Specificity
100 %
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 %
Connective Tissue Seq Analysis.

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

FBLN5, COL1A1, COL1A2, COL3A1, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Seq + Del/Dup Panel.

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

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Connective Tissue Del/Dup Panel.

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

FBLN5, COL1A1, COL1A2, COL3A1, ELN, FBN1, PLOD3, CBS, COL5A1, COL5A2, PLOD1, SMAD4, COL4A5, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Marfan Syndrome (deletion/duplication analysis of FBN1 gene).

By CGC Genetics in Portugal.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome (sequence analysis of FBN1 gene).

By CGC Genetics in Portugal.

FBN1
Specificity
100 %
Genes
100 %
Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes).

By CGC Genetics in Portugal.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
Acromicric dysplasia (sequence analysis of FBN1 gene).

By CGC Genetics in Portugal.

FBN1
Specificity
100 %
Genes
100 %
Marfan and Loeys-Dietz syndromes (NGS panel for 3 genes).

By CGC Genetics in Portugal.

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, AKT2, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, AGPAT2, PCYT1A
Specificity
6 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

FBN1, BLM, LMNA, CAV1, ZMPSTE24, ERCC6, POLD1, ERCC8, KCNJ6, WRN, SPRTN, BANF1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

FBN1, BLM, LMNA, CAV1, ZMPSTE24, ERCC6, POLD1, ERCC8, KCNJ6, WRN, SPRTN, BANF1
Specificity
9 %
Genes
100 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, AKT2, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, AGPAT2, PCYT1A
Specificity
6 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

PPARG, FBN1, CAVIN1, BLM, LMNA, BSCL2, LMNB2, CAV1, ZMPSTE24, PSMB8, ERCC6, POLD1, AKT2, ERCC8, PIK3R1, LIPE, TBC1D4, CIDEC, PLIN1, KCNJ6 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Marfan Syndrome.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

FBN1
Specificity
100 %
Genes
100 %
MASS Syndrome.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

FBN1
Specificity
100 %
Genes
100 %
Ectopia Lentis, Isolated.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

FBN1
Specificity
100 %
Genes
100 %
FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, SMS, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, EYA4, DSP, FBN1, NRAS, FKTN, LMNA, CAV3, DES, MYH7, MYBPC3, KCNJ2, KCNH2, SCN5A, KCNE1, KCNQ1, CACNA1C, TGFBR2, FBN2, ABCC9 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Marfan Syndrome via FBN1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBN1
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

COL3A1, FBN1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, FOXE3, TGFB3, PRKG1, MFAP5, MAT2A, LOX
Specificity
6 %
Genes
100 %
Ectopia lentis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, ADAMTSL4
Specificity
50 %
Genes
100 %
Ectopia lentis NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, ADAMTSL4
Specificity
50 %
Genes
100 %
Ectopia lentis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, ADAMTSL4
Specificity
50 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome and Loeys-Dietz syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
Marfan syndrome and Loeys-Dietz syndrome core NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
Marfan syndrome, type I / II Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFBR2
Specificity
50 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome, type I / II NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFBR2
Specificity
50 %
Genes
100 %
Marfan syndrome and Loeys-Dietz syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, TGFB3
Specificity
17 %
Genes
100 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FOXE3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Marfan syndrome and Loeys-Dietz syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, TGFB3
Specificity
17 %
Genes
100 %
Marfan syndrome, type I / II Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFBR2
Specificity
50 %
Genes
100 %
Marfan syndrome and Loeys-Dietz syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
Marfan syndrome and Loeys-Dietz syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, TGFB3
Specificity
17 %
Genes
100 %
Fibrillinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, CBS, FBN2
Specificity
34 %
Genes
100 %
Fibrillinopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, CBS, FBN2
Specificity
34 %
Genes
100 %
Fibrillinopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, CBS, FBN2
Specificity
34 %
Genes
100 %
Weill-Marchesani syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
100 %
Overgrowth syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

FBN1, NSD1, GPC3, SETD2, PIGA, OFD1, DNMT3A, NFIX, EZH2, PDGFRB, EED
Specificity
10 %
Genes
100 %
Overgrowth syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, NSD1, GPC3, SETD2, PIGA, OFD1, DNMT3A, NFIX, EZH2, PDGFRB, EED
Specificity
10 %
Genes
100 %
Weill-Marchesani syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
100 %
Weill-Marchesani syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, LTBP2, ADAMTS10, ADAMTS17
Specificity
25 %
Genes
100 %
Overgrowth syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBN1, NSD1, GPC3, SETD2, PIGA, OFD1, DNMT3A, NFIX, EZH2, PDGFRB, EED
Specificity
10 %
Genes
100 %
Marfan syndrome, type I Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal dominant.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome, type I Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal dominant Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal dominant Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome, type I.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Marfan syndrome, type I Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome, type I NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2 NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal dominant Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal dominant NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, isolated, autosomal dominant Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome, type I Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome.

By Institute of Human Genetics Cologne University in Germany.

FBN1
Specificity
100 %
Genes
100 %
Thoracic aortic diseases.

By Institute of Human Genetics Cologne University in Germany.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
10 %
Genes
100 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

B4GALT7, COL1A1, COL1A2, COL3A1, ELN, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL4A5, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Marfan Syndrome.

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

FBN1
Specificity
100 %
Genes
100 %
Ectopia Lentis.

By MGZ Medical Genetics Center in Germany.

COL2A1, FBN1, CBS, COL11A1, COL18A1, ADAMTSL4, ADAMTS10, ASPH, VCAN, ADAMTS17
Specificity
10 %
Genes
100 %
Marfan Syndrome.

By MGZ Medical Genetics Center in Germany.

FBN1
Specificity
100 %
Genes
100 %
FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections.

By MGZ Medical Genetics Center in Germany.

FBN1
Specificity
100 %
Genes
100 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
100 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AGL, B4GALT7, ADSL, COL1A1, COL1A2, COL3A1, AMACR, POLG, AFG3L2, FBN1, AGK, SLC39A13, COQ8A, OTC, AIFM1, CBS, COL5A1, COL5A2, GLA , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Stickler Syndrome / High Myopia.

By MGZ Medical Genetics Center in Germany.

COL2A1, FBN1, COL5A1, COL5A2, COL9A1, COL9A3, COL9A2, COL11A1, COL18A1, VCAN, P3H2
Specificity
10 %
Genes
100 %
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).

By MGZ Medical Genetics Center in Germany.

COL3A1, FBN1, CBS, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, SLC2A10, MYH11, EFEMP2, PRKG1
Specificity
7 %
Genes
100 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

TTR, COL3A1, AMACR, POLG, FBN1, OTC, CBS, GLA, NOTCH3, COL4A1, FLNA, TREX1, HTRA1, CACNA1C, TGFB2, TGFBR1, TGFBR2, SLC2A10, ABCC6, ADA2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Marfan syndrome.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

FBN1
Specificity
100 %
Genes
100 %
Cardiovascular disorders panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, SLC8A1
Specificity
6 %
Genes
100 %
Aortic Aneurysm, familial thoracic type 1.

By Centogene AG - the Rare Disease Company in Germany.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome - AD.

By Centogene AG - the Rare Disease Company in Germany.

FBN1
Specificity
100 %
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
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
Specificity
1 %
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 %
Marfan, Loeys-Dietz syndrome and related disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10, EFEMP2, TGFB3, SMAD2
Specificity
7 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

FBN1, FGFR3, PRKAR1A, WDR35, ADAMTSL2, IFT140, IFT43, IFT122, WNT5A, ROR2, PDE4D, ZSWIM6, GPC6, TRPS1, GDF5, DDR2, NPR2, IHH, GSC
Specificity
6 %
Genes
100 %
MARFAN Syndrome FBN1 Gene DNA Sequence Analysis.

By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS in Turkey.

FBN1
Specificity
100 %
Genes
100 %
Thoracic Aortic Aneurysms and Aortic Dissections.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11
Specificity
12 %
Genes
100 %
Marfan Syndrome.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome, FBN1.

By GGA - Galil Genetic Analysis in Israel.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome (FBN1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FBN1
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes.

By Asper Biogene Asper Biogene LLC in Estonia.

COL3A1, FBN1, COL5A1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11
Specificity
10 %
Genes
100 %
HAD panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, ACTA2, MYH11, TGFB3
Specificity
10 %
Genes
100 %
FBN1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis gene package.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
Genes
100 %
Marfan Syndrome, FBN1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

FBN1
Specificity
100 %
Genes
100 %
FBN1 gene sequencing.

By Health in Code in Spain.

FBN1
Specificity
100 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Aortic diseases Panel.

By Health in Code in Spain.

GAA, COL1A1, COL1A2, COL3A1, ELN, FBN1, CBS, COL5A1, COL5A2, HRAS, PLOD1, PTPN11, SMAD4, FLNA, MED12, ZDHHC9, TGFB2, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Marfan Syndrome.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.

FBN1
Specificity
100 %
Genes
100 %
Test for Marfan Syndrome.

By Secugen SL in Spain.

FBN1
Specificity
100 %
Genes
100 %
Acromicric dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, familial.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
100 %
Geleophysic dysplasia 2.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
100 %
MASS syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2, dominant.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
100 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
100 %
Acromicric dysplasia.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis, familial.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
100 %
Geleophysic dysplasia 2.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
100 %
MASS syndrome.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
100 %
Weill-Marchesani syndrome 2, dominant.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
100 %
Stiff skin syndrome.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
100 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, SMAD4, FLNA, MED12, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Invitae Marfan Syndrome Test.

By Invitae in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome: FBN1 gene deletions-duplications analysis (MLPA).

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

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome: FBN1 gene sequence analysis.

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

FBN1
Specificity
100 %
Genes
100 %
AORTOPATHIES, FAMILIAL.

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

FBN1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, TGFBR3, ADAMTSL4
Specificity
12 %
Genes
100 %
Marfan syndrome and related disorders.

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

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
10 %
Genes
100 %
FBN1 sequencing and deletion/duplication analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

FBN1
Specificity
100 %
Genes
100 %
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome.

By Genome Diagnostics VU University Medical Center in Netherlands.

FBN1, CBS, ADAMTSL2, LTBP2, ADAMTSL4, ADAMTS10, ADAMTS17
Specificity
15 %
Genes
100 %
NGS panel - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2, PRKG1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.

By Genome Diagnostics VU University Medical Center in Netherlands.

B4GALT7, COL1A1, COL1A2, FBN1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, FKBP14, PRDM5, TNXB, CHST14, ZNF469, COL12A1, B3GAT3, B3GALT6, CHST3, DSE , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

COL3A1, ELN, FBN1, COL5A1, PLOD1, SMAD4, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, EFEMP2, TGFB3, SCARF2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11
Specificity
7 %
Genes
100 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, PSAP, GNPTAB, GLB1, GNE, SMPD1, FBN1, CTSD, GRN, HEXA, GM2A, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, SLC22A5, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 97 more genes
Specificity
1 %
Genes
100 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, GAA, COL3A1, DSP, CRYAB, RAF1, FBN1, TAZ, CBS, COL5A1, COL5A2, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Familial Aortopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

COL3A1, FBN1, TGFBR1, TGFBR2, ACTA2, MYH11
Specificity
17 %
Genes
100 %
FBN1 (Marfan Syndrome) Full Gene Sequencing.

By Integrated Genetics Westborough Integrated Genetics in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

COL3A1, FBN1, CBS, COL5A1, COL5A2, FLNA, MED12, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
6 %
Genes
100 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PSEN1, EYA4, DSP, SLC25A4, FBN1, TAZ, FKTN, LMNA, PSEN2, CAV3, TTN, DES, MYH7, LDB3, MYBPC3, TMEM43, TCAP, SGCD, KCNJ2, KCNH2 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
FBN1.

By Fulgent Genetics Fulgent Genetics in United States.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Aorta Panel.

By Blueprint Genetics in Finland.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

FBN1, FGFR3, SMAD4, PRKAR1A, SHOX, WDR35, SOX9, ADAMTSL2, IFT140, LTBP2, BMPR1B, WDR19, GNAS, IFT122, EXT1, WNT5A, ROR2, LIFR, SLC35D1, TRIP11 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, B4GALT7, COL1A1, COL1A2, COL3A1, TNFRSF11A, FBN1, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, CYP27B1, PPIB, TNFRSF11B, COL5A1, COL5A2, VDR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Ectopia Lentis Panel.

By Blueprint Genetics in Finland.

AASS, FBN1, BCOR, SUOX, CBS, PORCN, LTBP2, VSX2, COL18A1, ADAMTSL4, ADAMTS10, ASPH, P3H2, ADAMTS17
Specificity
8 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Marfan syndrome.

By Bioarray in Spain.

FBN1
Specificity
100 %
Genes
100 %
Marfan syndrome.

By Bioarray in Spain.

FBN1
Specificity
100 %
Genes
100 %
Ectopia lentis syndrome autosomal dominant.

By Bioarray in Spain.

FBN1
Specificity
100 %
Genes
100 %
Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, ACTA2, MYH11, SMAD6
Specificity
10 %
Genes
100 %
Marfan Syndrome NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

FBN1, TGFBR1, TGFBR2
Specificity
34 %
Genes
100 %
FBN1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

FBN1
Specificity
100 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Marfan Syndrome Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

FBN1
Specificity
100 %
Genes
100 %
Aortic Aneurysm, Familial Thoracic Panel by NGS.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, SLC2A10, MYH11, TGFB3
Specificity
10 %
Genes
100 %
FBN1 Gene, entire coding region or targeted variant.

By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.

FBN1
Specificity
100 %
Genes
100 %
Collagenopathies.

By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy.

TGFB1, ELN, FBN1, COL5A1, SMAD3, TGFBR1, TGFBR2
Specificity
15 %
Genes
100 %
MARFAN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FBN1
Specificity
100 %
Genes
100 %
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

COL3A1, FBN1, COL5A1, COL5A2, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, TGFB3, PRKG1, MFAP5
Specificity
7 %
Genes
100 %
Aortic aneurysm, hereditary thoracic panel.

By LifeLabs Genetics in Canada.

COL3A1, FBN1, CBS, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11
Specificity
9 %
Genes
100 %
Marfan Syndrome , Sequencing FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome , Sequencing Rest Exons FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome, Sequencing Majority Exons FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome , Deletions-Duplications (MLPA) FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
100 %
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

COL3A1, FBN1, COL5A1, SMAD3, TGFBR1, TGFBR2, FBN2, ACTA2, MYH11
Specificity
12 %
Genes
100 %
Familial Aortic Diseases , Panel Massive Sequencing 8 Genes.

By Reference Laboratory Genetics in Spain.

FBN1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, ADAMTSL4
Specificity
13 %
Genes
100 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes.

By Reference Laboratory Genetics in Spain.

FBN1, LTBP2, ADAMTSL4
Specificity
34 %
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 %
Weill-Marchesani Syndrome: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FBN1, LTBP2, ADAMTS10
Specificity
34 %
Genes
100 %
Heritable Thoracic Aortic Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

COL3A1, FBN1, TGFB2, SMAD3, TGFBR1, TGFBR2, MYLK, ACTA2, MYH11, TGFB3, PRKG1, MFAP5, MAT2A
Specificity
8 %
Genes
100 %

Alternate names

Marfan Lipodystrophy Syndrome; Mfls Is also known as marfanoid-progeroid syndrome, marfan-progeroid-lipodystrophy syndrome;.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DIGEORGE SYNDROME; DGS GRAHAM LITTLE-PICCARDI-LASSUEUR SYNDROME ALVEOLAR SOFT PART SARCOMA; ASPS ALPORT SYNDROME, X-LINKED; ATS SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE; SPG72

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