Shprintzen-goldberg Craniosynostosis Syndrome; Sgs

Description

Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic, cardiovascular, and connective tissue anomalies. There appears to be a characteristic facies involving hypertelorism, downslanting palpebral fissures, high-arched palate, micrognathia, and low-set posteriorly rotated ears. Other commonly reported manifestations include hypotonia, developmental delay, and inguinal or umbilical hernia; the most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis, and joint hypermobility (summary by Robinson et al., 2005).There is considerable phenotypic overlap between SGS and Marfan syndrome (MFS ) and Loeys-Dietz syndrome (LDS; see {609192}): SGS includes virtually all of the craniofacial, skeletal, skin, and cardiovascular manifestations of MFS and LDS, with the additional findings of mental retardation and severe skeletal muscle hypotonia (summary by Doyle et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Shprintzen-goldberg Craniosynostosis Syndrome; Sgs

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Failure to thrive
  • Motor delay
And another 103 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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Shprintzen-goldberg Craniosynostosis Syndrome; Sgs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
34 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc in United States.

ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, SETBP1, SERPINI1, KIF1BP, KCNJ10, ANKRD11, PIGV, PIGN, PIGA, ROGDI, KANSL1, MAGI2, KMT2D, LGI1, KCNA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Comprehensive Brain Malformation Panel.

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

DISP1, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, GAS1, EOMES, DLL1, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
34 %
KIAA1279 sequencing.

By Genetic Services Laboratory University of Chicago in United States.

KIF1BP
Specificity
100 %
Genes
34 %
Polymicrogyria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RTTN, TBC1D20, AKT3-IT1, CCND2, OCLN, RAB18, RAB3GAP2, GPSM2, KIF1BP, TUBB2B, ADGRG1, TUBA8, RAB3GAP1, NDE1, WDR62, TUBA1A, TUBB3
Specificity
6 %
Genes
34 %
KIAA1279 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago in United States.

KIF1BP
Specificity
100 %
Genes
34 %
Cerebral Cortical Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RTTN, OCLN, VLDLR, RAB18, RAB3GAP2, LAMC3, ACTG1, ACTB, KIF1BP, TUBB2B, ADGRG1, PAFAH1B1, TUBA8, RELN, RAB3GAP1, DCX, LARGE1, POMT1, POMT2, FKRP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Polymicrogyria Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

RTTN, TBC1D20, AKT3-IT1, CCND2, OCLN, RAB18, RAB3GAP2, GPSM2, KIF1BP, TUBB2B, ADGRG1, TUBA8, RAB3GAP1, NDE1, WDR62, TUBA1A, TUBB3
Specificity
6 %
Genes
34 %
Microcephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, TRAPPC9, CEP63, KNL1, CEP135, ZNF335, CDK6, PHC1, CENPE, MFSD2A , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
34 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SNAP29, ASNS, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, KATNB1, CDK5, B3GNT2, RTTN, TBC1D20, CCND2, OCLN, AKT3, VLDLR, RAB18, RAB3GAP2, TUBB4A, GMPPB , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

SLC1A4, PPP1R15B, USP18, TUBGCP6, ASXL3, TUBGCP4, PYCR2, CRIPT, PLK4, ORC4, ORC6, CDT1, CDC6, ORC1, NIN, TRAPPC9, CEP63, KNL1, CEP135, ZNF335 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
34 %
Goldberg-Shprintzen megacolon syndrome (sequence analysis of KIAA1279 gene).

By CGC Genetics in Portugal.

KIF1BP
Specificity
100 %
Genes
34 %
Goldberg-Shprintzen Megacolon Syndrome via KIAA1279 (KIF1BP) Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

KIF1BP
Specificity
100 %
Genes
34 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
67 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
34 %
Polymicrogyria.

By MGZ Medical Genetics Center in Germany.

KIF5C, TUBB, OCLN, EOMES, GPSM2, NSDHL, KIF1BP, TUBB2B, SRPX2, ADGRG1, TUBA8, NDE1, WDR62, CHD7, TUBA1A, FH, TUBB3
Specificity
6 %
Genes
34 %
Goldberg-Shprintzen megacolon syndrome.

By Centogene AG - the Rare Disease Company in Germany.

KIF1BP
Specificity
100 %
Genes
34 %
Hirschsprung disease.

By Centogene AG - the Rare Disease Company in Germany.

KIF1BP
Specificity
100 %
Genes
34 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
34 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
34 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RTTN, VLDLR, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, TSEN2, TSEN34, EXOSC3, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
34 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
34 %
Polymicrogyria NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

KIF1BP, TUBB2B, SRPX2, ADGRG1, TUBA8, TUBA1A, TUBB3
Specificity
15 %
Genes
34 %
KIAA1279.

By Fulgent Genetics Fulgent Genetics in United States.

KIF1BP
Specificity
100 %
Genes
34 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
34 %
KIF1BP.

By Fulgent Genetics Fulgent Genetics in United States.

KIF1BP
Specificity
100 %
Genes
34 %
Hirschsprung Disease Panel.

By Blueprint Genetics in Finland.

CELSR3, NRG1, NRTN, BDNF, MITF, SOX10, EDNRB, PAX3, EDN3, ZEB2, KIF1BP, L1CAM, PHOX2B, RMRP, RET
Specificity
7 %
Genes
34 %
Polymicrogyria Panel.

By Blueprint Genetics in Finland.

OCLN, AKT3, RAB18, GPSM2, TUBB2A, NSDHL, LAMC3, KIF1BP, TUBB2B, SRPX2, ADGRG1, TUBA8, NDE1, WDR62, TUBA1A, FH, TUBB3
Specificity
6 %
Genes
34 %
Neuronal Migration Disorder Panel.

By Blueprint Genetics in Finland.

YWHAE, COL4A2, SEPSECS, LAMB1, MPDZ, TUBG1, KATNB1, RTTN, OCLN, AKT3, PIK3R2, VLDLR, RAB18, PIK3CA, KIF7, RAB3GAP2, GMPPB, GPSM2, FLVCR2, TUBB2A , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
34 %
HIRSCHSPRUNG´S DISEASE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ECE1, GDNF, SEMA3A, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, RET
Specificity
12 %
Genes
34 %
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.

By Reference Laboratory Genetics in Spain.

LAMB1, OCLN, AKT3, PIK3R2, VLDLR, PIK3CA, GPSM2, LAMC3, ACTG1, ACTB, CASK, OPHN1, KIF1BP, TUBB2B, SRPX2, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
34 %
Syndromic Hirschsprung Disease: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

GDNF, BDNF, SDCCAG8, WDPCP, LZTFL1, SOX10, EDNRB, EDN3, ZEB2, KIF1BP, L1CAM, NF1, DHCR7, ELP1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
34 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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

MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, PLOD1, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A1, FBLN5
Specificity
10 %
Genes
67 %
NGS Connective Tissue Disorders Panel.

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

ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A1, PKD2 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
67 %
Congenital Contractures Panel.

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

MYH8, ERCC6, ERBB3, PIP5K1C, SCARF2, PSMB8, RIPK4, CHMP1A, ECEL1, ZMPSTE24, PITX1, MYBPC1, ZBTB42, CNTNAP1, ADCY6, ADGRG6, GLDN, SLC18A3, PIEZO2, MYH3 , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
67 %
Familial Aneurysm Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, SMAD4, CBS , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
Cardiomyopathy Panel.

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

TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)

View the complete list with 92 more genes
Specificity
2 %
Genes
67 %
Connective Tissue Disorders Panel.

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

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
67 %
Craniosynostosis.

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

IFT122, IL11RA, IFT43, MASP1, ASXL1, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
Familial Aneurysm and Aortopathy.

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

B3GALT6, TGFB3, ZNF469, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
67 %
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.

MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, FLNA, CBS, FBN1, COL3A1
Specificity
15 %
Genes
67 %
SKI Sequencing.

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

SKI
Specificity
100 %
Genes
34 %
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, DPH1, CDC45, ALX1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
SKI.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SKI
Specificity
100 %
Genes
34 %
Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes.

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

PRKG1, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS, PLOD3, FBN1 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
Marfan/TAAD Sequencing Panel.

By GeneDx in United States.

MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
13 %
Genes
67 %
Marfan/TAAD Sequencing & Del/Dup Panel.

By GeneDx in United States.

MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
13 %
Genes
67 %
Connective Tissue Disorders Panel.

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

ADAMTS10, SMAD2, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
67 %
Craniosynostosis.

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

TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, ASXL1, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
COL3A1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
CustomNext: Cardio.

By Ambry Genetics in United States.

TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
67 %
TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
FBN1 gene sequence and deletion/duplication reflex TAADNext.

By Ambry Genetics in United States.

PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
SKI. Complete sequencing.

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

SKI
Specificity
100 %
Genes
34 %
Craniosynostosis Sequence Analysis.

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

CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, IFT122, IFT43, EFNB1, SKI, TWIST1, MSX2, POR, RAB23, WDR35, RUNX2, RECQL4
Specificity
6 %
Genes
34 %
Craniofacial Del/Dup Panel.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Craniosynostosis Del/Dup Panel.

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

CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, IFT122, IFT43, EFNB1, SKI, TWIST1, MSX2, POR, RAB23, WDR35, RUNX2, RECQL4
Specificity
6 %
Genes
34 %
Connective Tissue Seq Analysis.

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

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
67 %
Craniosynostosis Seq + Del/Dup Panel.

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

CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, IFT122, IFT43, EFNB1, SKI, TWIST1, MSX2, POR, RAB23, WDR35, RUNX2, RECQL4
Specificity
6 %
Genes
34 %
Craniofacial Seq + Del/Dup Panel.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Connective Tissue Seq + Del/Dup Panel.

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

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
67 %
Connective Tissue Del/Dup Panel.

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

SMAD6, GATA5, LOX, SMAD2, MAT2A, B3GAT3, MFAP5, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1 , (...)

View the complete list with 16 more genes
Specificity
6 %
Genes
67 %
Craniofacial Seq Analysis.

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

PLCB4, EDN1, SNRPB, POLR1A, MIR17HG, SF3B4, ALX3, CD96, TCF12, ERF, ZIC1, MEGF8, SPECC1L, ALX1, IFT122, MYCN, EVC2, EVC, IFT43, EFTUD2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
34 %
Shprintzen-Goldberg syndrome (sequence analysis of SKI gene).

By CGC Genetics in Portugal.

SKI
Specificity
100 %
Genes
34 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

TMCO1, IRX5, IMPAD1, TCF12, ERF, MEGF8, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, SCARF2, WDR19, IFT140, GLI3, SKI, TGFBR2 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LOX, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, SMS , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
67 %
Shprintzen-Goldberg Syndrome via SKI Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SKI
Specificity
100 %
Genes
34 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TGDS, DDX59, COL27A1, SULF1, NPPC, TXNL4A, TBX4, RASGRP2, KIF22, ADAMTS17, ACAN, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, GHSR, TBX6, XYLT1 , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
67 %
Craniosynostosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests in United States.

CYP26B1, SLC25A24, TCF12, ERF, ZIC1, MEGF8, CDC45, FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
34 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
67 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
67 %
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

BGN, LOX, SMAD2, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
67 %
Shprintzen-Goldberg craniosynostosis syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

SKI
Specificity
100 %
Genes
34 %
Shprintzen-Goldberg craniosynostosis syndrome Comprehensive test.

By Connective Tissue Gene Tests in United States.

SKI
Specificity
100 %
Genes
34 %
Shprintzen-Goldberg craniosynostosis syndrome NGS test.

By Connective Tissue Gene Tests in United States.

SKI
Specificity
100 %
Genes
34 %
Marfan syndrome, EDS and other connective tissue disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

GATA5, DSE, B3GALT6, MAT2A, MFAP5, PRKG1, TGFB3, EFEMP2, CHST14, TNXB, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3 , (...)

View the complete list with 17 more genes
Specificity
6 %
Genes
67 %
Vascular and connective tissue diseases - panels.

By MGZ Medical Genetics Center in Germany.

JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...)

View the complete list with 47 more genes
Specificity
3 %
Genes
67 %
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD).

By MGZ Medical Genetics Center in Germany.

PRKG1, EFEMP2, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, CBS, FBN1, COL3A1
Specificity
13 %
Genes
67 %
Shprintzen-Goldberg syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SKI
Specificity
100 %
Genes
34 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
34 %
Marfan, Loeys-Dietz syndrome and related disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

SMAD2, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL5A2, COL5A1, FBN1, COL3A1
Specificity
14 %
Genes
67 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

DSE, RIN2, B3GALT6, MAT2A, GORAB, MFAP5, PRKG1, TGFB3, LTBP4, EFEMP2, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)

View the complete list with 24 more genes
Specificity
5 %
Genes
67 %
Craniosynostosis syndromes Panel.

By CeGaT GmbH in Germany.

TCF12, ERF, MEGF8, FREM1, IFT122, IL11RA, IFT43, EFNB1, ALX4, WDR19, SKI, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
5 %
Genes
34 %
Shprintzen-Goldberg syndrome.

By Medical Genetics Unit Sistemas Genómicos in Spain.

SKI
Specificity
100 %
Genes
34 %
HAD panel 1.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

TGFB3, MYH11, ACTA2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1, COL3A1
Specificity
20 %
Genes
67 %
SKI mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

SKI
Specificity
100 %
Genes
34 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
67 %
Aortic Valvular Diseases Panel.

By Health in Code in Spain.

ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
67 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
67 %
Aortic diseases Panel.

By Health in Code in Spain.

GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
67 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

UBB, PAX7, HOXA2, TSHZ1, EIF4A3, DLX4, TBX22, SUMO1, KDM1A, SMOC2, WDR72, NOG, ODAPH, MMP20, KLK4, NECTIN1, ENAM, LTBP3, LRP6, PAX9 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
34 %
Invitae Aortopathy Comprehensive Panel.

By Invitae in United States.

PRKG1, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, MED12, FLNA, SMAD4, PLOD1, COL5A2, COL5A1 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
Craniosysostosis.

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

FREM1, IFT122, IL11RA, IFT43, EFNB1, WDR19, GLI3, SKI, TGFBR2, TGFBR1, TWIST1, MSX2, POR, RAB23, WDR35, FGFR1, FGFR2, FGFR3, RECQL4
Specificity
6 %
Genes
34 %
NGS panel - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, PLOD1, FBN1, ELN , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, PLOD1, FBN1, ELN , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PLOD1, COL5A1 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1.

By Genome Diagnostics VU University Medical Center in Netherlands.

SMAD2, PRKG1, SCARF2, TGFB3, EFEMP2, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, PLOD1, COL5A1, FBN1 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MYH11, SLC2A10, ACTA2, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
13 %
Genes
67 %
Comprehensive Cardiovascular: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)

View the complete list with 97 more genes
Specificity
2 %
Genes
67 %
Comprehensive Cardiovascular: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
67 %
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, MED12, FLNA, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
12 %
Genes
67 %
SKI.

By Fulgent Genetics Fulgent Genetics in United States.

SKI
Specificity
100 %
Genes
34 %
Marfan Syndrome Panel.

By Blueprint Genetics in Finland.

ADAMTS17, VCAN, SMAD6, ADAMTS10, ADAMTSL4, ABL1, BGN, MAT2A, TGFB3, EFEMP2, SLC2A10, FBN2, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, UPF3B, MED12, COL11A2 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
67 %
Aorta Panel.

By Blueprint Genetics in Finland.

ADAMTS17, SMAD6, ADAMTS10, GATA5, ADAMTSL4, ENPP1, ABL1, BGN, SMAD2, MAT2A, MFAP5, TGFB3, EFEMP2, ZNF469, ABCC6, FKBP14, MYH11, SLC2A10, ACTA2, FBN2 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
67 %
Craniosynostosis Panel.

By Blueprint Genetics in Finland.

NOG, TWIST2, GDF5, FLNB, ALX3, TCF12, ERF, ZIC1, MEGF8, CDC45, ESCO2, BMP4, FREM1, IFT122, IL11RA, MASP1, EFNB1, ALX4, WDR19, IFT140 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, BHLHA9, WDR34, FAM83H , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
67 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
67 %
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.

SMAD6, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1
Specificity
20 %
Genes
67 %
SKI Gene Sequencing and Deletion/Duplication Analysis.

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

SKI
Specificity
100 %
Genes
34 %
SHPRINTZEN-GOLDBERG SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

SKI
Specificity
100 %
Genes
34 %
Shprintzen-Goldberg Syndrome, Sequencing SKI Gene.

By Reference Laboratory Genetics in Spain.

SKI
Specificity
100 %
Genes
34 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
67 %
Shprintzen-Goldberg Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SKI
Specificity
100 %
Genes
34 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FBN1
Specificity
100 %
Genes
34 %
FBN1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

FBN1
Specificity
100 %
Genes
34 %
FBN1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

FBN1
Specificity
100 %
Genes
34 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories in United States.

COL5A2, COL5A1, TNFRSF11B, PPIB, PLOD2, CRTAP, P3H1, SLC9A3R1, SLC39A13, PLOD3, SP7, SERPINF1, FBN1, TNFRSF11A, SLC34A1, COL3A1, COL1A2, COL1A1, IFITM5, B4GALT7 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Marfan syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome.

By Center for Human Genetics, Inc in United States.

FBN1
Specificity
100 %
Genes
34 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc in United States.

NTM, TGFBR3, PRKG1, MYH11, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, COL11A2, COL11A1, FLNA, COL5A2, COL5A1, FBN1, COL3A1, COL1A2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Thoracic aortic aneurysms and aortic dissection - full panel.

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

MYH11, SLC2A10, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FBN1, COL3A1
Specificity
10 %
Genes
34 %
Marfan syndrome - full panel.

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

FBN1
Specificity
100 %
Genes
34 %
Thoracic aortic aneurysms and aortic dissection - familial variant analysis.

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

MYH11, SLC2A10, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FBN1, COL3A1
Specificity
10 %
Genes
34 %
Marfan syndrome - familial variant analysis.

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

FBN1
Specificity
100 %
Genes
34 %
FBN1 genomic sequencing and deleltion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome and Loeys-Dietz Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington in United States.

TGFB3, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1
Specificity
17 %
Genes
34 %
Marfan Syndrome - FBN1 Gene.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
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.

TGFBR2, TGFBR1, FBN1
Specificity
34 %
Genes
34 %
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
34 %
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.

TGFBR2, TGFBR1, FBN1
Specificity
34 %
Genes
34 %
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
34 %
Congenital Generalized Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, CAV1, BSCL2, CAVIN1, FBN1
Specificity
17 %
Genes
34 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ADRA2A, AKT2, POLD1, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Congenital Generalized Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago in United States.

AGPAT2, KCNJ6, CAV1, BSCL2, CAVIN1, FBN1
Specificity
17 %
Genes
34 %
FBN1.

By Institute for Human Genetics University Clinic Freiburg in Germany.

FBN1
Specificity
100 %
Genes
34 %
PulmoGene Panel (64 Genes).

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

GDNF, ASCL1, BDNF, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4, DNAAF1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
34 %
Marfan Syndrome, FBN1 Del/Dup.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome, FBN1 Seq, Del/Dup.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome (FBN1) Sequencing.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome/TAAD Del/Dup Panel.

By GeneDx in United States.

MYH11, SLC2A10, ACTA2, FBN2, TGFBR2, TGFBR1, SMAD3, COL5A2, COL5A1, CBS, FBN1, COL3A1
Specificity
9 %
Genes
34 %
FBN1 gene sequence and deletion/duplication.

By Ambry Genetics in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan-Syndrome.

By Human Genetics University Hospital Bern in Switzerland.

FBN1
Specificity
100 %
Genes
34 %
TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS.

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

TGFBR3, ACTA2, FBN2, TGFBR2, TGFBR1, FBN1, ELN
Specificity
15 %
Genes
34 %
FBN1, TGFBR2. NextGeneDx.Complete sequencing by NGS.

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

TGFBR2, FBN1
Specificity
50 %
Genes
34 %
FBN1, TGFBR1, TGFBR2. NextGeneDx.Complete sequencing by NGS.

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

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

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

FBN1
Specificity
100 %
Genes
34 %
FBN1. MLPA testing.

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

FBN1
Specificity
100 %
Genes
34 %
FBN1. Complete sequencing.

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

FBN1
Specificity
100 %
Genes
34 %
Pneumothorax Seq Analysis.

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

TGFBR2, TGFBR1, FLCN, FBN1, COL3A1
Specificity
20 %
Genes
34 %
Pneumothorax Del/ Dup Panel.

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

TGFBR2, TGFBR1, FLCN, FBN1, COL3A1
Specificity
20 %
Genes
34 %
Marfan Seq + Del/Dup Analysis.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan Del/Dup Analysis.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan Seq Analysis.

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

FBN1
Specificity
100 %
Genes
34 %
Pneumothorax Seq + Del/Dup Panel.

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

TGFBR2, TGFBR1, FLCN, FBN1, COL3A1
Specificity
20 %
Genes
34 %
Marfan Syndrome (deletion/duplication analysis of FBN1 gene).

By CGC Genetics in Portugal.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome (sequence analysis of FBN1 gene).

By CGC Genetics in Portugal.

FBN1
Specificity
100 %
Genes
34 %
Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes).

By CGC Genetics in Portugal.

MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1
Specificity
10 %
Genes
34 %
Acromicric dysplasia (sequence analysis of FBN1 gene).

By CGC Genetics in Portugal.

FBN1
Specificity
100 %
Genes
34 %
Marfan and Loeys-Dietz syndromes (NGS panel for 3 genes).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, WRN, KCNJ6, ERCC8, POLD1, ERCC6, ZMPSTE24, CAV1, LMNA, BLM, FBN1
Specificity
9 %
Genes
34 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, WRN, KCNJ6, ERCC8, POLD1, ERCC6, ZMPSTE24, CAV1, LMNA, BLM, FBN1
Specificity
9 %
Genes
34 %
Lipodystrophies (NGS panel for 17 genes).

By CGC Genetics in Portugal.

PCYT1A, AGPAT2, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, AKT2, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2, LMNA, CAVIN1, FBN1, PPARG
Specificity
6 %
Genes
34 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics in Portugal.

BANF1, SPRTN, PCYT1A, WRN, AGPAT2, KCNJ6, PLIN1, CIDEC, TBC1D4, LIPE, PIK3R1, ERCC8, AKT2, POLD1, ERCC6, PSMB8, ZMPSTE24, CAV1, LMNB2, BSCL2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
34 %
Marfan Syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
MASS Syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
Ectopia Lentis, Isolated.

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

FBN1
Specificity
100 %
Genes
34 %
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
34 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
34 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
Marfan Syndrome via FBN1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBN1
Specificity
100 %
Genes
34 %
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LOX, MAT2A, MFAP5, PRKG1, TGFB3, FOXE3, MYH11, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SMAD4, FBN1, COL3A1
Specificity
6 %
Genes
34 %
Ectopia lentis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ADAMTSL4, FBN1
Specificity
50 %
Genes
34 %
Ectopia lentis NGS panel.

By Connective Tissue Gene Tests in United States.

ADAMTSL4, FBN1
Specificity
50 %
Genes
34 %
Ectopia lentis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ADAMTSL4, FBN1
Specificity
50 %
Genes
34 %
Marfan syndrome and Loeys-Dietz syndrome core Comprehensive panel.

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

TGFBR2, FBN1
Specificity
50 %
Genes
34 %
Marfan syndrome, type I / II NGS panel.

By Connective Tissue Gene Tests in United States.

TGFBR2, FBN1
Specificity
50 %
Genes
34 %
Marfan syndrome and Loeys-Dietz syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TGFB3, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1
Specificity
17 %
Genes
34 %
Marfan syndrome and Loeys-Dietz syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TGFB3, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1
Specificity
17 %
Genes
34 %
Marfan syndrome, type I / II Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TGFBR2, FBN1
Specificity
50 %
Genes
34 %
Marfan syndrome and Loeys-Dietz syndrome core Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

TGFB3, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1
Specificity
17 %
Genes
34 %
Fibrillinopathy NGS panel.

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

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

By Connective Tissue Gene Tests in United States.

ADAMTS17, ADAMTS10, LTBP2, FBN1
Specificity
25 %
Genes
34 %
Overgrowth syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
10 %
Genes
34 %
Overgrowth syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
10 %
Genes
34 %
Weill-Marchesani syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ADAMTS17, ADAMTS10, LTBP2, FBN1
Specificity
25 %
Genes
34 %
Weill-Marchesani syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ADAMTS17, ADAMTS10, LTBP2, FBN1
Specificity
25 %
Genes
34 %
Overgrowth syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

EED, PDGFRB, EZH2, NFIX, DNMT3A, OFD1, PIGA, SETD2, GPC3, NSD1, FBN1
Specificity
10 %
Genes
34 %
Marfan syndrome, type I Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, isolated, autosomal dominant.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome, type I Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, isolated, autosomal dominant Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, isolated, autosomal dominant Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome, type I.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC25A24, BANF1, ERCC5, PDGFRB, WRN, AGPAT2, ERCC8, POLD1, B3GALT6, ERCC4, ERCC6, ZMPSTE24, ERCC3, ERCC2, BSCL2, LMNA, ALDH18A1, FBN1, PYCR1, B4GALT7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC25A24, BANF1, ERCC5, PDGFRB, WRN, AGPAT2, ERCC8, POLD1, B3GALT6, ERCC4, ERCC6, ZMPSTE24, ERCC3, ERCC2, BSCL2, LMNA, ALDH18A1, FBN1, PYCR1, B4GALT7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC25A24, BANF1, ERCC5, PDGFRB, WRN, AGPAT2, ERCC8, POLD1, B3GALT6, ERCC4, ERCC6, ZMPSTE24, ERCC3, ERCC2, BSCL2, LMNA, ALDH18A1, FBN1, PYCR1, B4GALT7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Marfan syndrome, type I Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome, type I NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2 NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, isolated, autosomal dominant Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, isolated, autosomal dominant NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, isolated, autosomal dominant Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome, type I Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome NGS Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2 Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2 Comprehensive Test.

By Connective Tissue Gene Tests in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome.

By Institute of Human Genetics Cologne University in Germany.

FBN1
Specificity
100 %
Genes
34 %
Thoracic aortic diseases.

By Institute of Human Genetics Cologne University in Germany.

MYH11, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, CBS, FBN1, COL3A1
Specificity
10 %
Genes
34 %
Marfan Syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
Ectopia Lentis.

By MGZ Medical Genetics Center in Germany.

ADAMTS17, VCAN, ASPH, ADAMTS10, ADAMTSL4, COL18A1, COL11A1, CBS, FBN1, COL2A1
Specificity
10 %
Genes
34 %
Marfan Syndrome.

By MGZ Medical Genetics Center in Germany.

FBN1
Specificity
100 %
Genes
34 %
FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections.

By MGZ Medical Genetics Center in Germany.

FBN1
Specificity
100 %
Genes
34 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
34 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

OVOL2, TMEM98, SIPA1L3, SALL2, TMEM114, NDUFB11, JAM3, ADAMTS17, AGBL1, BMP7, HMX1, MIR184, SLC38A8, SMOC1, MAB21L2, CRYGS, PXDN, HSF4, P3H2, BFSP1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
34 %
Stickler Syndrome / High Myopia.

By MGZ Medical Genetics Center in Germany.

P3H2, VCAN, COL18A1, COL11A1, COL9A2, COL9A3, COL9A1, COL5A2, COL5A1, FBN1, COL2A1
Specificity
10 %
Genes
34 %
Teenager Stroke / Stroke-Like Episodes.

By MGZ Medical Genetics Center in Germany.

COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Marfan syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
Cardiovascular disorders panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

SLC8A1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1
Specificity
6 %
Genes
34 %
Aortic Aneurysm, familial thoracic type 1.

By Centogene AG - the Rare Disease Company in Germany.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome - AD.

By Centogene AG - the Rare Disease Company in Germany.

FBN1
Specificity
100 %
Genes
34 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
34 %
Comprehensive pulmonary disease panel.

By Centogene AG - the Rare Disease Company in Germany.

GDNF, ASCL1, BDNF, NOP10, SFTPA1, SFTPA2, DNAI1, SFTPB, BMPR2, DNAH5, NME8, SFTPC, ABCA3, NKX2-1, DNAH11, DNAI2, DNAAF2, RSPH4A, RSPH9, LTBP4 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
34 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH in Germany.

GSC, IHH, NPR2, DDR2, GDF5, TRPS1, GPC6, ZSWIM6, PDE4D, ROR2, WNT5A, IFT122, IFT43, IFT140, ADAMTSL2, WDR35, PRKAR1A, FGFR3, FBN1
Specificity
6 %
Genes
34 %
MARFAN Syndrome FBN1 Gene DNA Sequence Analysis.

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

FBN1
Specificity
100 %
Genes
34 %
Thoracic Aortic Aneurysms and Aortic Dissections.

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

MYH11, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1, COL3A1
Specificity
12 %
Genes
34 %
Marfan Syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome, FBN1.

By GGA - Galil Genetic Analysis in Israel.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome (FBN1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

FBN1
Specificity
100 %
Genes
34 %
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes.

By Asper Biogene Asper Biogene LLC in Estonia.

MYH11, SLC2A10, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, COL5A1, FBN1, COL3A1
Specificity
10 %
Genes
34 %
FBN1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis gene package.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

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

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

FBN1
Specificity
100 %
Genes
34 %
FBN1 gene sequencing.

By Health in Code in Spain.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome.

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

FBN1
Specificity
100 %
Genes
34 %
Test for Marfan Syndrome.

By Secugen SL in Spain.

FBN1
Specificity
100 %
Genes
34 %
Acromicric dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, familial.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
34 %
Geleophysic dysplasia 2.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
34 %
MASS syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2, dominant.

By Praxis fuer Humangenetik Wien in Austria.

FBN1
Specificity
100 %
Genes
34 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
34 %
Acromicric dysplasia.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis, familial.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
34 %
Geleophysic dysplasia 2.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
34 %
MASS syndrome.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
34 %
Weill-Marchesani syndrome 2, dominant.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
34 %
Stiff skin syndrome.

By MedGene in Slovakia.

FBN1
Specificity
100 %
Genes
34 %
Invitae Marfan Syndrome Test.

By Invitae in United States.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome: FBN1 gene deletions-duplications analysis (MLPA).

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

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome: FBN1 gene sequence analysis.

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

FBN1
Specificity
100 %
Genes
34 %
AORTOPATHIES, FAMILIAL.

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

ADAMTSL4, TGFBR3, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, FBN1
Specificity
12 %
Genes
34 %
Marfan syndrome and related disorders.

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

MYH11, ACTA2, FBN2, TGFBR2, TGFBR1, SMAD3, TGFB2, COL5A2, COL5A1, FBN1, COL3A1
Specificity
10 %
Genes
34 %
FBN1 sequencing and deletion/duplication analysis.

By Genome Diagnostics VU University Medical Center in Netherlands.

FBN1
Specificity
100 %
Genes
34 %
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome.

By Genome Diagnostics VU University Medical Center in Netherlands.

ADAMTS17, ADAMTS10, ADAMTSL4, LTBP2, ADAMTSL2, CBS, FBN1
Specificity
15 %
Genes
34 %
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1.

By Genome Diagnostics VU University Medical Center in Netherlands.

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

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ADAMTS10, LTBP2, GNPTG, HYAL1, NAGA, LAMP2, NEU1, FUCA1, ATP13A2, MFSD8, DNAJC5, ASAH1, KCTD7, CLN5, SUMF1, SLC17A5, MCOLN1, PPT1, CTNS, CLN8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
34 %
Connective Tissue Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, ACAN, PAPSS2, TBX6, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, DLL3, NKX3-2 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
34 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
34 %
Connective Tissue Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ACVR1, ZNF469, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, PKD2, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
34 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SULF1, KIF22, PAPSS2, IHH, NPR2, MMP9, MMP13, DDR2, MATN3, GDF5, TRPS1, TRIP11, SLC35D1, LIFR, FLNB, ACP5, NKX3-2, CHST3, GPC6, TBCE , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
34 %
Familial Aortopathy Full Gene Sequencing Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

MYH11, ACTA2, TGFBR2, TGFBR1, FBN1, COL3A1
Specificity
17 %
Genes
34 %
FBN1 (Marfan Syndrome) Full Gene Sequencing.

By Integrated Genetics Westborough Integrated Genetics in United States.

FBN1
Specificity
100 %
Genes
34 %
Connective Tissue NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACVR1, ZNF469, ABCC6, CHST14, PRDM5, FKBP14, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, COL11A1, COL4A1, PKD2, ADAMTS2, PLOD1, COL5A2 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
34 %
Sudden Death Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
34 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

SULF1, RASGRP2, KIF22, PAPSS2, LMBR1, NOG, FMN1, FBXW4, FBLN1, IHH, WNT3, BMP2, NPR2, MMP9, MAFB, MMP13, DLX3, DDR2, TBX3, HDAC4 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
34 %
FBN1.

By Fulgent Genetics Fulgent Genetics in United States.

FBN1
Specificity
100 %
Genes
34 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

DSE, BGN, EFEMP2, ZNF469, ABCC6, CHST14, FKBP14, FBN2, TGFBR2, TGFBR1, SMAD3, TGFB2, COL11A1, FLNA, ADAMTS2, PLOD1, COL5A2, COL5A1, CBS, SLC39A13 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Micromelic Dysplasia Panel.

By Blueprint Genetics in Finland.

DVL1, IHH, NPR2, INPPL1, GDF5, TRPS1, ADAMTS10, TRIP11, SLC35D1, LIFR, ROR2, WNT5A, EXT1, IFT122, GNAS, WDR19, BMPR1B, LTBP2, IFT140, ADAMTSL2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %
Skeletal Dysplasia with Abnormal Mineralization Panel.

By Blueprint Genetics in Finland.

SNX10, GALNT3, SLC34A3, CLCN5, ENPP1, PTDSS1, MGP, PLS3, SOX9, FGF23, PHEX, CASR, VDR, COL5A2, COL5A1, TNFRSF11B, PPIB, CYP27B1, PLOD2, CRTAP , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Ectopia Lentis Panel.

By Blueprint Genetics in Finland.

ADAMTS17, P3H2, ASPH, ADAMTS10, ADAMTSL4, COL18A1, VSX2, LTBP2, PORCN, CBS, SUOX, BCOR, FBN1, AASS
Specificity
8 %
Genes
34 %
Marfan syndrome.

By Bioarray in Spain.

FBN1
Specificity
100 %
Genes
34 %
Marfan syndrome.

By Bioarray in Spain.

FBN1
Specificity
100 %
Genes
34 %
Ectopia lentis syndrome autosomal dominant.

By Bioarray in Spain.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome NGS and Deletion/Duplication Panel.

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

TGFBR2, TGFBR1, FBN1
Specificity
34 %
Genes
34 %
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
34 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
34 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
34 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
34 %
Marfan Syndrome Panel by NGS.

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

FBN1
Specificity
100 %
Genes
34 %
Aortic Aneurysm, Familial Thoracic Panel by NGS.

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

TGFB3, MYH11, SLC2A10, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1
Specificity
10 %
Genes
34 %
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
34 %
Collagenopathies.

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

TGFBR2, TGFBR1, SMAD3, COL5A1, FBN1, ELN, TGFB1
Specificity
15 %
Genes
34 %
MARFAN SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

FBN1
Specificity
100 %
Genes
34 %
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MFAP5, PRKG1, TGFB3, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, COL5A2, COL5A1, FBN1, COL3A1
Specificity
7 %
Genes
34 %
Aortic aneurysm, hereditary thoracic panel.

By LifeLabs Genetics in Canada.

MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, CBS, FBN1, COL3A1
Specificity
9 %
Genes
34 %
Marfan Syndrome , Sequencing FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome , Sequencing Rest Exons FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome, Sequencing Majority Exons FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome , Deletions-Duplications (MLPA) FBN1 Gene.

By Reference Laboratory Genetics in Spain.

FBN1
Specificity
100 %
Genes
34 %
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

MYH11, ACTA2, FBN2, TGFBR2, TGFBR1, SMAD3, COL5A1, FBN1, COL3A1
Specificity
12 %
Genes
34 %
Familial Aortic Diseases , Panel Massive Sequencing 8 Genes.

By Reference Laboratory Genetics in Spain.

ADAMTSL4, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, FBN1
Specificity
13 %
Genes
34 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes.

By Reference Laboratory Genetics in Spain.

ADAMTS10, TGFB3, EFEMP2, ACVR1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
34 %
Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes.

By Reference Laboratory Genetics in Spain.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

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

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MAT2A, MFAP5, PRKG1, TGFB3, MYH11, ACTA2, MYLK, TGFBR2, TGFBR1, SMAD3, TGFB2, FBN1, COL3A1
Specificity
8 %
Genes
34 %

Alternate names

Shprintzen-goldberg Craniosynostosis Syndrome; Sgs Is also known as craniosynostosis with arachnodactyly and abdominal hernias, marfanoid disorder with craniosynostosis, type i, marfanoid craniosynostosis syndrome;marfanoid craniosynostosis syndrome; sgs.


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