FBN1 gene related symptoms and diseases
All the information presented here about the FBN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FBN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ectopia lentis | Common - Between 50% and 80% cases |
| Arachnodactyly | Common - Between 50% and 80% cases |
| Mitral valve prolapse | Uncommon - Between 30% and 50% cases |
| Scoliosis | Uncommon - Between 30% and 50% cases |
| Dilatation | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FBN1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Joint stiffness
- Aortic root aneurysm
- Aortic aneurysm
- Short stature
- Mitral regurgitation
- Disproportionate tall stature
- High, narrow palate
- Myopia
And 383 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FBN1 gene
Here you will find a list of rare diseases related to the FBN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MARFAN SYNDROME TYPE 1
Alternate names
MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3, marfan syndrome, type ii, formerly, mfs1, aat3
Most common symptoms of MARFAN SYNDROME TYPE 1
- Intellectual disability
- Global developmental delay
- Scoliosis
- Hypertelorism
- Micrognathia
More info about MARFAN SYNDROME TYPE 1
MARFAN SYNDROME; MFS
Alternate names
MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i, mfs1
Description
A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.
Most common symptoms of MARFAN SYNDROME; MFS
- Intellectual disability
- Generalized hypotonia
- Scoliosis
- Micrognathia
- Strabismus
More info about MARFAN SYNDROME; MFS
SOURCES: OMIM
ISOLATED ECTOPIA LENTIS
Alternate names
ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome, familial ectopia lentis
Description
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
Most common symptoms of ISOLATED ECTOPIA LENTIS
- Scoliosis
- Nystagmus
- Cataract
- Cognitive impairment
- Visual impairment
More info about ISOLATED ECTOPIA LENTIS
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
Description
Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010).Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS).
Most common symptoms of ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
- Visual impairment
- Joint stiffness
- Arachnodactyly
- Ectopia lentis
- Disproportionate tall stature
More info about ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
SOURCES: OMIM
MASS SYNDROME
Alternate names
MASS SYNDROME Is also known as octd, overlap connective tissue disease, mass phenotype
Most common symptoms of MASS SYNDROME
- Dilatation
- Mitral valve prolapse
- Ectopia lentis
- Aortic aneurysm
- Disproportionate tall stature
More info about MASS SYNDROME
ACROMICRIC DYSPLASIA
Description
Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Most common symptoms of ACROMICRIC DYSPLASIA
- Short stature
- Growth delay
- Abnormal facial shape
- Brachydactyly
- Anteverted nares
More info about ACROMICRIC DYSPLASIA
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
Alternate names
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad
Description
Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.
Most common symptoms of FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
- Scoliosis
- Hypertelorism
- Hypertension
- Dilatation
- Patent ductus arteriosus
More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION
SOURCES: ORPHANET
GELEOPHYSIC DYSPLASIA
Alternate names
GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism
Description
Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
Most common symptoms of GELEOPHYSIC DYSPLASIA
- Seizures
- Global developmental delay
- Short stature
- Growth delay
- Hypertelorism
More info about GELEOPHYSIC DYSPLASIA
WEILL-MARCHESANI SYNDROME
Alternate names
WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome
Description
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Most common symptoms of WEILL-MARCHESANI SYNDROME
- Short stature
- Cataract
- Brachydactyly
- Ventricular septal defect
- Intellectual disability, mild
More info about WEILL-MARCHESANI SYNDROME
SOURCES: ORPHANET
GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME
Alternate names
GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss, mesodermal dysmorphodystrophy, congenital, gemss syndrome, weill-marchesani syndrome, autosomal dominant, glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, spherophakia-brachymorphia syndrome
Description
Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).
Most common symptoms of GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME
- Intellectual disability
- Short stature
- Scoliosis
- Cataract
- Depressed nasal bridge
More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME
SHPRINTZEN-GOLDBERG SYNDROME
Alternate names
SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs, marfanoid craniosynostosis syndrome, craniosynostosis with arachnodactyly and abdominal hernias, marfanoid disorder with craniosynostosis, type i
Description
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Most common symptoms of SHPRINTZEN-GOLDBERG SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about SHPRINTZEN-GOLDBERG SYNDROME
STIFF SKIN SYNDROME
Description
Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.
Most common symptoms of STIFF SKIN SYNDROME
- Short stature
- Scoliosis
- Strabismus
- Sensorineural hearing impairment
- Muscle weakness
More info about STIFF SKIN SYNDROME
GELEOPHYSIC DYSPLASIA 2; GPHYSD2
Most common symptoms of GELEOPHYSIC DYSPLASIA 2; GPHYSD2
- Short stature
- Hypertelorism
- Hepatomegaly
- Respiratory insufficiency
- Short nose
More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2
SOURCES: OMIM
PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME
Alternate names
PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome, marfan-progeroid-lipodystrophy syndrome
Description
Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.
Most common symptoms of PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME
- Growth delay
- Failure to thrive
- Abnormal facial shape
- Hypertension
- Myopia
More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME
NEONATAL MARFAN SYNDROME
Alternate names
NEONATAL MARFAN SYNDROME Is also known as neonatal mfs
Description
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.
Most common symptoms of NEONATAL MARFAN SYNDROME
- Micrognathia
- Muscular hypotonia
- Low-set ears
- Flexion contracture
- Feeding difficulties
More info about NEONATAL MARFAN SYNDROME
SOURCES: ORPHANET
Search interest in FBN1
Potential gene panels for FBN1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FBN1 gene.
More info about this panel United States.
FBN1 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FBN1 gene.
More info about this panel United States.
FBN1 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FBN1 gene.
More info about this panel United States.
Low Bone Mass Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories Low Bone Mass Panel (MitomeNGS) that also includes the following genes: SLC34A1 SLC9A3R1 TNFRSF11A TNFRSF11B IFITM5 SP7 FKBP10 P3H1 SLC39A13 COL1A2
More info about this panel United States.
NGS Aortic Dysfunction or Dilation and Related Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Aortic Dysfunction or Dilation and Related Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2
More info about this panel United States.
NGS Connective Tissue Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2
More info about this panel United States.
Marfan syndrome Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the FBN1 gene.
More info about this panel United States.
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
Marfan Syndrome Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the FBN1 gene.
More info about this panel United States.
Connective Tissue Disorders 22-gene panel Panel
United States.
By Center for Human Genetics, Inc Connective Tissue Disorders 22-gene panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TGFBR3 ACTA2 NTM COL11A1 COL11A2 COL1A2 COL3A1
More info about this panel United States.
Thoracic aortic aneurysms and aortic dissection - full panel Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Thoracic aortic aneurysms and aortic dissection - full panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Canada.
Marfan syndrome - full panel Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
This panel specifically test the FBN1 gene.
More info about this panel Canada.
Thoracic aortic aneurysms and aortic dissection - familial variant analysis Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario Thoracic aortic aneurysms and aortic dissection - familial variant analysis that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Canada.
Marfan syndrome - familial variant analysis Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
This panel specifically test the FBN1 gene.
More info about this panel Canada.
FBN1 genomic sequencing and deleltion/duplication analysis Panel
United States.
By Collagen Diagnostic Laboratory University of Washington
This panel specifically test the FBN1 gene.
More info about this panel United States.
Familial Aneurysm Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Familial Aneurysm Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
Marfan Syndrome and Loeys-Dietz Syndrome Panel Panel
United States.
By Collagen Diagnostic Laboratory University of Washington Marfan Syndrome and Loeys-Dietz Syndrome Panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 FBN1 SMAD3
More info about this panel United States.
Marfan Syndrome - FBN1 Gene Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the FBN1 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Connective Tissue Disorders Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel United States.
Craniosynostosis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43
More info about this panel United States.
Familial Aneurysm and Aortopathy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Familial Aneurysm and Aortopathy that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Syndrome and Related Disorders Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Marfan Syndrome and Related Disorders Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel United States.
FBN1 Deletion/Duplication Analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Syndrome and MFS Related Disorders Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Marfan Syndrome and MFS Related Disorders Panel that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel United States.
Thoracic Aortic Aneurysm Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Thoracic Aortic Aneurysm Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 FBN1 FBN2
More info about this panel United States.
FBN1 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FBN1 gene.
More info about this panel United States.
Congenital Generalized Lipodystrophy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Deletion/Duplication Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panel United States.
Comprehensive Lipodystrophy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panel United States.
Comprehensive Lipodystrophy Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6
More info about this panel United States.
Congenital Generalized Lipodystrophy Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Generalized Lipodystrophy Panel that also includes the following genes: CAV1 BSCL2 AGPAT2 FBN1 KCNJ6 CAVIN1
More info about this panel United States.
FBN1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the FBN1 gene.
More info about this panel Germany.
PulmoGene Panel (64 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC
More info about this panel United States.
Marfan Syndrome, FBN1 Del/Dup Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Syndrome, FBN1 Seq, Del/Dup Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the FBN1 gene.
More info about this panel United States.
Aortopathy Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Aortopathy Panel, Sequencing and Deletion/Duplication that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2
More info about this panel United States.
Marfan Syndrome (FBN1) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan/TAAD Sequencing Panel Panel
United States.
By GeneDx Marfan/TAAD Sequencing Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Marfan Syndrome/TAAD Del/Dup Panel Panel
United States.
By GeneDx Marfan Syndrome/TAAD Del/Dup Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1 COL5A2 FBN1 FBN2
More info about this panel United States.
Marfan/TAAD Sequencing & Del/Dup Panel Panel
United States.
By GeneDx Marfan/TAAD Sequencing & Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Connective Tissue Disorders Panel Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S
More info about this panel United States.
COL3A1 gene sequence and deletion/duplication reflex TAADNext Panel
United States.
By Ambry Genetics COL3A1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
CustomNext: Cardio Panel
United States.
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panel United States.
TAADNext Panel
United States.
By Ambry Genetics TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
FBN1 gene sequence and deletion/duplication Panel
United States.
By Ambry Genetics
This panel specifically test the FBN1 gene.
More info about this panel United States.
FBN1 gene sequence and deletion/duplication reflex TAADNext Panel
United States.
By Ambry Genetics FBN1 gene sequence and deletion/duplication reflex TAADNext that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
Marfan-Syndrome Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the FBN1 gene.
More info about this panel Switzerland.
TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica TGFBR1, TGFBR2, FBN1, ACTA2, FBN2, ELN, TGFBR3. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TGFBR1 TGFBR2 TGFBR3 ACTA2 ELN FBN1 FBN2
More info about this panel Spain.
FBN1, TGFBR2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica FBN1, TGFBR2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TGFBR2 FBN1
More info about this panel Spain.
FBN1, TGFBR1, TGFBR2. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica FBN1, TGFBR1, TGFBR2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel Spain.
FBN1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FBN1 gene.
More info about this panel Spain.
FBN1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FBN1 gene.
More info about this panel Spain.
FBN1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Pneumothorax Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pneumothorax Seq Analysis that also includes the following genes: TGFBR1 TGFBR2 COL3A1 FLCN FBN1
More info about this panel United States.
Pneumothorax Del/ Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pneumothorax Del/ Dup Panel that also includes the following genes: TGFBR1 TGFBR2 COL3A1 FLCN FBN1
More info about this panel United States.
Marfan Seq + Del/Dup Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Del/Dup Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FBN1 gene.
More info about this panel United States.
Pneumothorax Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pneumothorax Seq + Del/Dup Panel that also includes the following genes: TGFBR1 TGFBR2 COL3A1 FLCN FBN1
More info about this panel United States.
Connective Tissue Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2
More info about this panel United States.
Connective Tissue Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Connective Tissue Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1
More info about this panel United States.
Marfan Syndrome (deletion/duplication analysis of FBN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FBN1 gene.
More info about this panel Portugal.
Marfan Syndrome (sequence analysis of FBN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FBN1 gene.
More info about this panel Portugal.
Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes) Panel
Portugal.
By CGC Genetics Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel for 10 genes) that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 FBN1 FBN2 SMAD3 MYH11 MYLK
More info about this panel Portugal.
Acromicric dysplasia (sequence analysis of FBN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FBN1 gene.
More info about this panel Portugal.
Marfan and Loeys-Dietz syndromes (NGS panel for 3 genes) Panel
Portugal.
By CGC Genetics Marfan and Loeys-Dietz syndromes (NGS panel for 3 genes) that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel Portugal.
Lipodystrophies (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panel Portugal.
Progeroid syndromes (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panel Portugal.
Progeroid syndromes (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Progeroid syndromes (NGS panel for 12 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BANF1 SPRTN ERCC6 ERCC8 FBN1 KCNJ6
More info about this panel Portugal.
Lipodystrophies (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA
More info about this panel Portugal.
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel
Portugal.
By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2
More info about this panel Portugal.
Marfan Syndrome Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the FBN1 gene.
More info about this panel United States.
MASS Syndrome Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the FBN1 gene.
More info about this panel United States.
Ectopia Lentis, Isolated Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the FBN1 gene.
More info about this panel United States.
FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections Panel
United States.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection that also includes the following genes: SKI SMS TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Sudden Cardiac Arrest Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Sudden Cardiac Arrest Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN2B SCN4B SCN5A SNTA1 TGFBR2 TNNC1 TNNI3 TNNT2 TPM1
More info about this panel United States.
Marfan Syndrome via FBN1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FBN1 gene.
More info about this panel United States.
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel with CNV Detection that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 FOXE3 LOX
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Ectopia lentis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Ectopia lentis Comprehensive panel that also includes the following genes: ADAMTSL4 FBN1
More info about this panel United States.
Ectopia lentis NGS panel Panel
United States.
By Connective Tissue Gene Tests Ectopia lentis NGS panel that also includes the following genes: ADAMTSL4 FBN1
More info about this panel United States.
Ectopia lentis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Ectopia lentis Deletion / Duplication panel that also includes the following genes: ADAMTSL4 FBN1
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome and Loeys-Dietz syndrome core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome and Loeys-Dietz syndrome core Comprehensive panel that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel United States.
Marfan syndrome and Loeys-Dietz syndrome core NGS panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome and Loeys-Dietz syndrome core NGS panel that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel United States.
Marfan syndrome, type I / II Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, type I / II Comprehensive panel that also includes the following genes: TGFBR2 FBN1
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome, type I / II NGS panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, type I / II NGS panel that also includes the following genes: TGFBR2 FBN1
More info about this panel United States.
Marfan syndrome and Loeys-Dietz syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome and Loeys-Dietz syndrome Comprehensive panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 FBN1 SMAD3
More info about this panel United States.
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS
More info about this panel United States.
Marfan syndrome and Loeys-Dietz syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome and Loeys-Dietz syndrome Deletion / Duplication panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 FBN1 SMAD3
More info about this panel United States.
Marfan syndrome, type I / II Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome, type I / II Deletion / Duplication panel that also includes the following genes: TGFBR2 FBN1
More info about this panel United States.
Marfan syndrome and Loeys-Dietz syndrome core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome and Loeys-Dietz syndrome core Deletion / Duplication panel that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel United States.
Marfan syndrome and Loeys-Dietz syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Marfan syndrome and Loeys-Dietz syndrome NGS panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 FBN1 SMAD3
More info about this panel United States.
Fibrillinopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Fibrillinopathy NGS panel that also includes the following genes: CBS FBN1 FBN2
More info about this panel United States.
Fibrillinopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Fibrillinopathy Deletion / Duplication panel that also includes the following genes: CBS FBN1 FBN2
More info about this panel United States.
Fibrillinopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Fibrillinopathy Comprehensive panel that also includes the following genes: CBS FBN1 FBN2
More info about this panel United States.
Weill-Marchesani syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Weill-Marchesani syndrome NGS panel that also includes the following genes: ADAMTS10 ADAMTS17 FBN1 LTBP2
More info about this panel United States.
Overgrowth syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Overgrowth syndrome NGS panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panel United States.
Overgrowth syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Overgrowth syndrome Comprehensive panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panel United States.
Weill-Marchesani syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Weill-Marchesani syndrome Comprehensive panel that also includes the following genes: ADAMTS10 ADAMTS17 FBN1 LTBP2
More info about this panel United States.
Weill-Marchesani syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Weill-Marchesani syndrome Deletion / Duplication panel that also includes the following genes: ADAMTS10 ADAMTS17 FBN1 LTBP2
More info about this panel United States.
Overgrowth syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Overgrowth syndrome Deletion / Duplication panel that also includes the following genes: NSD1 SETD2 OFD1 DNMT3A EED EZH2 FBN1 GPC3 NFIX PDGFRB
More info about this panel United States.
Marfan syndrome, type I Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Ectopia lentis, isolated, autosomal dominant Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan syndrome, type I Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Ectopia lentis, isolated, autosomal dominant Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Weill-Marchesani syndrome 2 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Ectopia lentis, isolated, autosomal dominant Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Weill-Marchesani syndrome 2 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan syndrome, type I Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Stiff skin syndrome Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Stiff skin syndrome Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Stiff skin syndrome Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Weill-Marchesani syndrome 2 Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Progeroid syndromes and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders NGS panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Comprehensive panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Progeroid syndromes and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Progeroid syndromes and related disorders Deletion / Duplication panel that also includes the following genes: WRN ZMPSTE24 BSCL2 BANF1 B3GALT6 SLC25A24 AGPAT2 ERCC2 ERCC3 ERCC4
More info about this panel United States.
Marfan syndrome, type I Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Stiff skin syndrome Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan syndrome, type I NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Weill-Marchesani syndrome 2 NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Ectopia lentis, isolated, autosomal dominant Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Ectopia lentis, isolated, autosomal dominant NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Ectopia lentis, isolated, autosomal dominant Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Stiff skin syndrome Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan syndrome, type I Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Stiff skin syndrome NGS Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Weill-Marchesani syndrome 2 Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Weill-Marchesani syndrome 2 Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FBN1 gene.
More info about this panel United States.
Connective tissue disorder Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Deletion / Duplication panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder Comprehensive panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Connective tissue disorder NGS panel Panel
United States.
By Connective Tissue Gene Tests Connective tissue disorder NGS panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 C1R C1S ACTA2
More info about this panel United States.
Marfan syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FBN1 gene.
More info about this panel Germany.
Thoracic aortic diseases Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Thoracic aortic diseases that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 CBS COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Germany.
Marfan syndrome, EDS and other connective tissue disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5
More info about this panel Germany.
Marfan Syndrome Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FBN1 gene.
More info about this panel Argentina.
Ectopia Lentis Panel
Germany.
By MGZ Medical Genetics Center Ectopia Lentis that also includes the following genes: ADAMTS10 CBS ADAMTS17 ADAMTSL4 COL11A1 COL18A1 VCAN FBN1 ASPH
More info about this panel Germany.
Marfan Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the FBN1 gene.
More info about this panel Germany.
FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the FBN1 gene.
More info about this panel Germany.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Stickler Syndrome / High Myopia Panel
Germany.
By MGZ Medical Genetics Center Stickler Syndrome / High Myopia that also includes the following genes: P3H2 COL11A1 COL18A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 VCAN FBN1
More info about this panel Germany.
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) Panel
Germany.
By MGZ Medical Genetics Center Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 EFEMP2 FBN1
More info about this panel Germany.
Teenager Stroke / Stroke-Like Episodes Panel
Germany.
By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1
More info about this panel Germany.
Marfan syndrome Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the FBN1 gene.
More info about this panel Germany.
Cardiovascular disorders panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiovascular disorders panel that also includes the following genes: SLC8A1 TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel Netherlands.
Aortic Aneurysm, familial thoracic type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FBN1 gene.
More info about this panel Germany.
Marfan syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FBN1 gene.
More info about this panel Germany.
Weill-Marchesani syndrome - AD Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FBN1 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
Marfan, Loeys-Dietz syndrome and related disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Marfan, Loeys-Dietz syndrome and related disorders panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 SLC2A10 COL3A1 COL5A1 COL5A2 EFEMP2
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm Panel
Germany.
By CeGaT GmbH Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 B3GALT6 ATP6V0A2
More info about this panel Germany.
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
Germany.
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panel Germany.
MARFAN Syndrome FBN1 Gene DNA Sequence Analysis Panel
Turkey.
By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS
This panel specifically test the FBN1 gene.
More info about this panel Turkey.
Thoracic Aortic Aneurysms and Aortic Dissections Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Thoracic Aortic Aneurysms and Aortic Dissections that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 COL3A1 FBN1 SMAD3 MYH11 MYLK
More info about this panel Poland.
Marfan Syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the FBN1 gene.
More info about this panel Poland.
Marfan syndrome, FBN1 Panel
Israel.
By GGA - Galil Genetic Analysis
This panel specifically test the FBN1 gene.
More info about this panel Israel.
Marfan Syndrome (FBN1) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FBN1 gene.
More info about this panel Germany.
Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes Panel
Estonia.
By Asper Biogene Asper Biogene LLC Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 COL3A1 COL5A1 FBN1 SMAD3 MYH11
More info about this panel Estonia.
Ehlers-Danlos Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Ehlers-Danlos Syndrome that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TNXB C1R C1S B3GALT6 ATP6V0A2 FKBP14 RIN2
More info about this panel Estonia.
HAD panel 1 Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital HAD panel 1 that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 FBN1 SMAD3 MYH11
More info about this panel Belgium.
FBN1 mutational analysis Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the FBN1 gene.
More info about this panel Belgium.
Ectopia lentis gene package Panel
Belgium.
By Connective Tissue Laboratory Ghent University Hospital Ectopia lentis gene package that also includes the following genes: ADAMTSL4 FBN1 LTBP2
More info about this panel Belgium.
Marfan Syndrome, FBN1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the FBN1 gene.
More info about this panel United States.
FBN1 gene sequencing Panel
Spain.
By Health in Code
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Aortic Valvular Diseases Panel Panel
Spain.
By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Aortic diseases Panel Panel
Spain.
By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5
More info about this panel Spain.
Marfan Syndrome Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the FBN1 gene.
More info about this panel Germany.
Test for Marfan Syndrome Panel
Spain.
By Secugen SL
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Acromicric dysplasia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FBN1 gene.
More info about this panel Austria.
Ectopia lentis, familial Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FBN1 gene.
More info about this panel Austria.
Geleophysic dysplasia 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FBN1 gene.
More info about this panel Austria.
Marfan syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FBN1 gene.
More info about this panel Austria.
MASS syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FBN1 gene.
More info about this panel Austria.
Stiff skin syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FBN1 gene.
More info about this panel Austria.
Weill-Marchesani syndrome 2, dominant Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FBN1 gene.
More info about this panel Austria.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Acromicric dysplasia Panel
Slovakia.
By MedGene
This panel specifically test the FBN1 gene.
More info about this panel Slovakia.
Ectopia lentis, familial Panel
Slovakia.
By MedGene
This panel specifically test the FBN1 gene.
More info about this panel Slovakia.
Geleophysic dysplasia 2 Panel
Slovakia.
By MedGene
This panel specifically test the FBN1 gene.
More info about this panel Slovakia.
Marfan syndrome Panel
Slovakia.
By MedGene
This panel specifically test the FBN1 gene.
More info about this panel Slovakia.
MASS syndrome Panel
Slovakia.
By MedGene
This panel specifically test the FBN1 gene.
More info about this panel Slovakia.
Weill-Marchesani syndrome 2, dominant Panel
Slovakia.
By MedGene
This panel specifically test the FBN1 gene.
More info about this panel Slovakia.
Stiff skin syndrome Panel
Slovakia.
By MedGene
This panel specifically test the FBN1 gene.
More info about this panel Slovakia.
Invitae Aortopathy Comprehensive Panel Panel
United States.
By Invitae Invitae Aortopathy Comprehensive Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1
More info about this panel United States.
Invitae Marfan Syndrome Test Panel
United States.
By Invitae
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan syndrome: FBN1 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Marfan syndrome: FBN1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FBN1 gene.
More info about this panel Spain.
AORTOPATHIES, FAMILIAL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AORTOPATHIES, FAMILIAL that also includes the following genes: TGFBR1 TGFBR2 TGFBR3 ACTA2 ADAMTSL4 FBN1 FBN2 SMAD3 MYLK
More info about this panel Spain.
Marfan syndrome and related disorders Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Marfan syndrome and related disorders that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 COL3A1 COL5A1 COL5A2 FBN1 FBN2 SMAD3
More info about this panel Spain.
FBN1 sequencing and deletion/duplication analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the FBN1 gene.
More info about this panel Netherlands.
NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome that also includes the following genes: ADAMTS10 ADAMTSL2 CBS ADAMTS17 ADAMTSL4 FBN1 LTBP2
More info about this panel Netherlands.
NGS panel - Aortic or arterial dilatation / dissection Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Aortic or arterial dilatation / dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2
More info about this panel Netherlands.
NGS panel- Aortic or arterial dilatation/dissection Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 EFEMP2
More info about this panel Netherlands.
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 that also includes the following genes: TNXB B3GALT6 FKBP14 CHST3 SLC39A13 DSE ADAMTS2 COL12A1 COL1A2 COL5A1
More info about this panel Netherlands.
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1
More info about this panel Netherlands.
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel- Aortic or arterial dilatation/dissection + COL5A1 that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 SCARF2 COL3A1 COL5A1
More info about this panel Netherlands.
Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders: Sequencing Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Lysosomal Storage Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panel United States.
Connective Tissue Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Comprehensive Cardiovascular: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panel United States.
Comprehensive Cardiovascular: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panel United States.
Connective Tissue Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Connective Tissue Disorders: Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Familial Aortopathy Full Gene Sequencing Panel Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Familial Aortopathy Full Gene Sequencing Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 COL3A1 FBN1 MYH11
More info about this panel United States.
FBN1 (Marfan Syndrome) Full Gene Sequencing Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL3A1 COL5A1
More info about this panel United States.
Connective Tissue NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Connective Tissue NGS Panel that also includes the following genes: TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ACVR1 ATP6V0A2 FKBP14 SLC39A13 ADAMTS2
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Sudden Death Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
FBN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FBN1 gene.
More info about this panel United States.
Marfan Syndrome Panel Panel
Finland.
By Blueprint Genetics Marfan Syndrome Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Aorta Panel Panel
Finland.
By Blueprint Genetics Aorta Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 ADAMTS10 SLC2A10 CBS
More info about this panel Finland.
Ehlers-Danlos Syndrome Panel Panel
Finland.
By Blueprint Genetics Ehlers-Danlos Syndrome Panel that also includes the following genes: BGN TGFB2 TGFBR1 TGFBR2 CBS ATP6V0A2 FKBP14 SLC39A13 DSE ADAMTS2
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Micromelic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panel Finland.
Skeletal Dysplasia with Abnormal Mineralization Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasia with Abnormal Mineralization Panel that also includes the following genes: SOX9 TNFRSF11A TNFRSF11B VDR SNX10 CASR ANKH FKBP10 P3H1 CLCN5
More info about this panel Finland.
Ectopia Lentis Panel Panel
Finland.
By Blueprint Genetics Ectopia Lentis Panel that also includes the following genes: SUOX ADAMTS10 CBS ADAMTS17 AASS PORCN P3H2 ADAMTSL4 VSX2 BCOR
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Marfan syndrome Panel
Spain.
By Bioarray
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Marfan syndrome Panel
Spain.
By Bioarray
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Ectopia lentis syndrome autosomal dominant Panel
Spain.
By Bioarray
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Thoracic Aortic Aneurysm NGS and Deletion/Duplication Panel that also includes the following genes: SKI TGFB2 TGFBR1 TGFBR2 ACTA2 FBN1 SMAD3 SMAD6 MYH11 MYLK
More info about this panel United States.
Marfan Syndrome NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Marfan Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: TGFBR1 TGFBR2 FBN1
More info about this panel United States.
FBN1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the FBN1 gene.
More info about this panel United States.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
Marfan Syndrome Panel by NGS Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the FBN1 gene.
More info about this panel Canada.
Aortic Aneurysm, Familial Thoracic Panel by NGS Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Aortic Aneurysm, Familial Thoracic Panel by NGS that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 FBN1 SMAD3 MYH11 MYLK
More info about this panel Canada.
FBN1 Gene, entire coding region or targeted variant Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the FBN1 gene.
More info about this panel Canada.
Collagenopathies Panel
Italy.
By Cardiovascular Genetics PO San Francesco-NUORO (IT) Collagenopathies that also includes the following genes: TGFB1 TGFBR1 TGFBR2 COL5A1 ELN FBN1 SMAD3
More info about this panel Italy.
MARFAN SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FBN1 gene.
More info about this panel Spain.
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 FBN1 SMAD3 MYH11 MYLK
More info about this panel Spain.
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2
More info about this panel Spain.
MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MARFAN SYNDROME AND RELATED DISEASES: NGS PANEL that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 ADAMTSL4 COL3A1 COL5A1 COL5A2
More info about this panel Spain.
ECTOPIA LENTIS Panel
Spain.
By Laboratorio de Genetica Clinica SL ECTOPIA LENTIS that also includes the following genes: ADAMTSL4 FBN1
More info about this panel Spain.
Aortic aneurysm, hereditary thoracic panel Panel
Canada.
By LifeLabs Genetics Aortic aneurysm, hereditary thoracic panel that also includes the following genes: TGFB2 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS COL3A1 FBN1 FBN2 SMAD3
More info about this panel Canada.
Marfan Syndrome , Sequencing FBN1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Marfan Syndrome , Sequencing Rest Exons FBN1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Marfan Syndrome, Sequencing Majority Exons FBN1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Marfan Syndrome , Deletions-Duplications (MLPA) FBN1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FBN1 gene.
More info about this panel Spain.
Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Marfan Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TGFBR1 TGFBR2 ACTA2 COL3A1 COL5A1 FBN1 FBN2 SMAD3 MYH11
More info about this panel Spain.
Familial Aortic Diseases , Panel Massive Sequencing 8 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Aortic Diseases , Panel Massive Sequencing 8 Genes that also includes the following genes: TGFBR1 TGFBR2 ACTA2 ADAMTSL4 FBN1 FBN2 SMAD3 MYLK
More info about this panel Spain.
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel
Spain.
By Reference Laboratory Genetics Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 ADAMTS10 SLC2A10 CBS ACVR1
More info about this panel Spain.
Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes Panel
Spain.
By Reference Laboratory Genetics Ectopia Lentis , Panel Massive Sequencing (NGS) ADAMTSL4, FBN1, LTBP2 Genes that also includes the following genes: ADAMTSL4 FBN1 LTBP2
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Weill-Marchesani Syndrome: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Weill-Marchesani Syndrome: gene sequencing panel that also includes the following genes: ADAMTS10 FBN1 LTBP2
More info about this panel Canada.
Heritable Thoracic Aortic Disease: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Heritable Thoracic Aortic Disease: gene sequencing panel that also includes the following genes: TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 COL3A1 MFAP5 FBN1 SMAD3 MAT2A
More info about this panel Canada.
Geleophysic Dysplasia: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Geleophysic Dysplasia: gene sequencing panel that also includes the following genes: ADAMTSL2 FBN1 LTBP3
More info about this panel Canada.
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