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.
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
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
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
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
Search interest in FBLN5
Potential gene panels for FBLN5 gene
MitoMet®Plus aCGH Analysis Panel

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

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

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

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

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

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

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
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PulmoGene Panel (64 Genes) Panel

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

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

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

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
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Cutis Laxa Panel Panel

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FBLN5 gene.
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Cutis laxa, autosomal recessive, type IA (sequence analysis of FBLN5 gene) Panel

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

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

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

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

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

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

By PreventionGenetics PreventionGenetics
This panel specifically test the FBLN5 gene.
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Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

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

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

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

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

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

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

By MGZ Medical Genetics Center
This panel specifically test the FBLN5 gene.
More info about this panel
Cutis laxa panel Panel

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

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

By Centogene AG - the Rare Disease Company
This panel specifically test the FBLN5 gene.
More info about this panel
AllNeuro panel Panel

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

By Centogene AG - the Rare Disease Company
This panel specifically test the FBLN5 gene.
More info about this panel
Comprehensive pulmonary disease panel Panel

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

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

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

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

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

By Connective Tissue Laboratory Ghent University Hospital
This panel specifically test the FBLN5 gene.
More info about this panel
Cutis laxa gene panel Panel

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

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

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

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

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

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

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

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

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

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

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

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

By Fulgent Genetics Fulgent Genetics
This panel specifically test the FBLN5 gene.
More info about this panel
Cutis Laxa Panel Panel

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

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

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

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

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

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

By Bioarray
This panel specifically test the FBLN5 gene.
More info about this panel
CUTIS LAXA (AUTOSOMAL DOMINANT) Panel

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

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

By Laboratorio de Genetica Clinica SL CUTIS LAXA (AUTOSOMAL RECESSIVE) that also includes the following genes: ATP6V0A2 EFEMP2 FBLN5 LTBP4 PYCR1 ALDH18A1
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Autosomal Recessive Cutis Laxa Type IA, Sequencing FBLN5 Gene Panel

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

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

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
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Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Panel

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
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FBLN5-Related Cutis Laxa: gene sequencing Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FBLN5 gene.
More info about this panel
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