FBLN5 gene related symptoms and diseases

All the information presented here about the FBLN5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FBLN5 gene

Symptoms // Phenotype % Cases
Redundant skin Common - Between 50% and 80% cases
Premature skin wrinkling Common - Between 50% and 80% cases
Cutis laxa Common - Between 50% and 80% cases
Joint hyperflexibility Uncommon - Between 30% and 50% cases
Bowel diverticulosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FBLN5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pulmonary artery stenosis
  • Emphysema
  • Aortic aneurysm
  • Abnormality of the face
  • Mitral regurgitation
  • Hyperextensible skin
  • Full cheeks
  • Prematurely aged appearance

And 104 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FBLN5 gene

Here you will find a list of rare diseases related to the FBLN5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT CUTIS LAXA


Alternate names

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Description

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

Most common symptoms of AUTOSOMAL DOMINANT CUTIS LAXA

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


More info about AUTOSOMAL DOMINANT CUTIS LAXA

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Alternate names

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1, autosomal recessive cutis laxa with severe systemic involvement, cutis laxa, autosomal recessive, autosomal recessive cutis laxa, pulmonary emphysema type

Description

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

Most common symptoms of AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

SOURCES: ORPHANET MESH OMIM

HEREDITARY SENSORIMOTOR NEUROPATHY WITH HYPERELASTIC SKIN


Description

Hereditary sensorimotor neuropathy with hyperelastic skin is a rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatus, dolichocephaly) may also be associated.


More info about HEREDITARY SENSORIMOTOR NEUROPATHY WITH HYPERELASTIC SKIN

SOURCES: ORPHANET

NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD


Description

Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, {118220}) and/or axonal CMT (see, e.g., CMT2A1, {118210}) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; {182960}) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}.

Most common symptoms of NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

  • Muscle weakness
  • High palate
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system


More info about NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

SOURCES: OMIM MESH

CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2


Description

Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (OMIM ).

Most common symptoms of CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

  • Scoliosis
  • Mitral regurgitation
  • Cutis laxa
  • Hyperextensible skin
  • Redundant skin


More info about CUTIS LAXA, AUTOSOMAL DOMINANT 2; ADCL2

SOURCES: OMIM


Potential gene panels for FBLN5 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

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

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

Macular Degeneration Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1

More info about this panel

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

FBLN5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the FBLN5 gene.

More info about this panel

Cystic Lung Disease Panel (8 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Cystic Lung Disease Panel (8 Genes) that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

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

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

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

Cutis Laxa Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Cutis Laxa Panel that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 PTDSS1 PYCR1 ALDH18A1

More info about this panel

FBLN5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FBLN5 gene.

More info about this panel

Cutis laxa, autosomal recessive, type IA (sequence analysis of FBLN5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FBLN5 gene.

More info about this panel

Cutis laxa, autosomal recessive, type IA (sequence analysis of FBLN5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FBLN5 gene.

More info about this panel

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

Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection that also includes the following genes: SPARC TGFBR1 TGFBR2 TNFRSF1A TNXB C1R C1S LZTS1 ADAMTSL2 B3GALT6

More info about this panel

Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 LITAF FIG4 FGD4 GNB4 SBF2 COX6A1

More info about this panel

Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel

Cutis Laxa via FBLN5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FBLN5 gene.

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX

More info about this panel

Cutis laxa Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa Deletion / Duplication panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Cutis laxa NGS panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa NGS panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Cutis laxa Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cutis laxa Comprehensive panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP6V1A ATP6V1E1 PYCR1 ALDH18A1

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

FBLN5 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the FBLN5 gene.

More info about this panel

Cutis laxa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cutis laxa panel that also includes the following genes: ATP6V0A2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

Macular degeneration, age-related type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FBLN5 gene.

More info about this panel

Cutis laxa type 2, autosomal dominant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FBLN5 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Cutis laxa type 1A, autosomal recessive Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FBLN5 gene.

More info about this panel

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

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

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

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2

More info about this panel

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

FBNL5 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the FBLN5 gene.

More info about this panel

Cutis laxa gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital Cutis laxa gene panel that also includes the following genes: TALDO1 ATP6V0A2 COG7 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1

More info about this panel

NGS panel - Cutis laxa Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Cutis laxa that also includes the following genes: RIN2 EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

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

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT

More info about this panel

Cystic Lung Disease: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Sequencing Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

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

Cystic Lung Disease: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cystic Lung Disease: Deletion/Duplication Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

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

Cystic Lung Disease NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Cystic Lung Disease NGS Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

Lung Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC

More info about this panel

Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

More info about this panel

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

FBLN5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FBLN5 gene.

More info about this panel

Cutis Laxa Panel Panel

Finland.

By Blueprint Genetics Cutis Laxa Panel that also includes the following genes: SLC2A10 ATP6V0A2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

Cystic Lung Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Lung Disease Panel that also includes the following genes: TSC1 TSC2 FLCN EFEMP2 ELN FBLN5 LTBP4 SERPINA1

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel

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

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

Comprehensive Pulmonology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7

More info about this panel

Autosomal recessive cutis laxa type 1 Panel

Spain.

By Bioarray

This panel specifically test the FBLN5 gene.

More info about this panel

CUTIS LAXA (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL CUTIS LAXA (AUTOSOMAL DOMINANT) that also includes the following genes: ELN FBLN5

More info about this panel

CUTIS LAXA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CUTIS LAXA: NGS PANEL that also includes the following genes: ATP6V0A2 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A PYCR1 ALDH18A1

More info about this panel

CUTIS LAXA (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL CUTIS LAXA (AUTOSOMAL RECESSIVE) that also includes the following genes: ATP6V0A2 EFEMP2 FBLN5 LTBP4 PYCR1 ALDH18A1

More info about this panel

Autosomal Recessive Cutis Laxa Type IA, Sequencing FBLN5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FBLN5 gene.

More info about this panel

Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TALDO1 ATP6V0A2 COG7 RIN2 GORAB EFEMP2 ELN FBLN5 LTBP4 ATP7A

More info about this panel

Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4

More info about this panel

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

FBLN5-Related Cutis Laxa: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FBLN5 gene.

More info about this panel


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