LRP5 gene related symptoms and diseases

All the information presented here about the LRP5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LRP5 gene

Symptoms // Phenotype % Cases
Blindness Uncommon - Between 30% and 50% cases
Increased bone mineral density Uncommon - Between 30% and 50% cases
Vitreous hemorrhage Rare - less than 30% cases
Hearing impairment Rare - less than 30% cases
Vitreoretinopathy Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with LRP5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Hyperostosis
  • Elevated alkaline phosphatase
  • Facial palsy
  • Generalized osteosclerosis
  • Headache
  • Thickened cortex of long bones
  • Thickened calvaria
  • Mandibular prognathia

And 131 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to LRP5 gene

Here you will find a list of rare diseases related to the LRP5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RETINOPATHY OF PREMATURITY

Alternate names

RETINOPATHY OF PREMATURITY Is also known as retrolental fibroplasia, rop

Description

Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

Most common symptoms of RETINOPATHY OF PREMATURITY

  • Blindness
  • Small for gestational age
  • Premature birth
  • Abnormality of the retinal vasculature
  • Vitreous hemorrhage


More info about RETINOPATHY OF PREMATURITY

SOURCES: ORPHANET

FAMILIAL EXUDATIVE VITREORETINOPATHY

Alternate names

FAMILIAL EXUDATIVE VITREORETINOPATHY Is also known as fevr, autosomal dominant, criswick-schepens syndrome, exudative vitreoretinopathy, familial, autosomal dominant, fevr

Description

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

Most common symptoms of FAMILIAL EXUDATIVE VITREORETINOPATHY

  • Microcephaly
  • Cataract
  • Blindness
  • Glaucoma
  • Reduced visual acuity


More info about FAMILIAL EXUDATIVE VITREORETINOPATHY

SOURCES: OMIM ORPHANET

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Alternate names

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg, osteogenesis imperfecta, ocular form, ocular form of osteogenesis imperfecta, ops

Description

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

Most common symptoms of OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

SOURCES: OMIM MESH ORPHANET

VAN BUCHEM DISEASE, TYPE 2

Alternate names

VAN BUCHEM DISEASE, TYPE 2 Is also known as vbch2

Most common symptoms of VAN BUCHEM DISEASE, TYPE 2

  • Mandibular prognathia
  • Thickened calvaria
  • Thickened cortex of long bones


More info about VAN BUCHEM DISEASE, TYPE 2

SOURCES: OMIM

AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1

Alternate names

AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1 Is also known as osteopetrosis, autosomal dominant, type i

Description

Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.

Most common symptoms of AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1

  • Seizures
  • Short stature
  • Hearing impairment
  • Pain
  • Headache


More info about AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 1

SOURCES: ORPHANET OMIM MESH

ENDOSTEAL HYPEROSTOSIS, WORTH TYPE

Alternate names

ENDOSTEAL HYPEROSTOSIS, WORTH TYPE Is also known as ostÉosclÉrose autosomique dominante type worth, osteosclerosis, autosomal dominant, autosomal dominant osteosclerosis, worth type, hyperostosis corticalis generalisata, benign form of worth, with torus palatinus, worth syndrome

Description

Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture.

Most common symptoms of ENDOSTEAL HYPEROSTOSIS, WORTH TYPE

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Sensorineural hearing impairment
  • Hypertension


More info about ENDOSTEAL HYPEROSTOSIS, WORTH TYPE

SOURCES: ORPHANET OMIM

HYPEROSTOSIS CORTICALIS GENERALISATA

Alternate names

HYPEROSTOSIS CORTICALIS GENERALISATA Is also known as hyperphosphatasemia tarda, hyperostosis corticalis generalisata, van buchem disease, endosteal hyperostosis, autosomal recessive

Description

Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.

Most common symptoms of HYPEROSTOSIS CORTICALIS GENERALISATA

  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Optic atrophy
  • Blindness


More info about HYPEROSTOSIS CORTICALIS GENERALISATA

SOURCES: OMIM ORPHANET

ISOLATED POLYCYSTIC LIVER DISEASE

Alternate names

ISOLATED POLYCYSTIC LIVER DISEASE Is also known as pcld, autosomal dominant polycystic liver disease, adpcld

Description

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

Most common symptoms of ISOLATED POLYCYSTIC LIVER DISEASE

  • Hepatomegaly
  • Respiratory insufficiency
  • Dilatation
  • Abdominal pain
  • Gastroesophageal reflux


More info about ISOLATED POLYCYSTIC LIVER DISEASE

SOURCES: ORPHANET OMIM

OSTEOPOROSIS

Alternate names

OSTEOPOROSIS Is also known as bone mineral density quantitative trait locus, osteoporosis, postmenopausal, bmnd, osteoporosis, involutional

Most common symptoms of OSTEOPOROSIS

  • Osteoporosis
  • Hypercalcemia
  • Hyperparathyroidism
  • Secondary hyperparathyroidism


More info about OSTEOPOROSIS

SOURCES: OMIM

EXUDATIVE VITREORETINOPATHY 4; EVR4

Description

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (OMIM ).

Most common symptoms of EXUDATIVE VITREORETINOPATHY 4; EVR4

  • Blindness
  • Reduced visual acuity
  • Osteopenia
  • Subcapsular cataract
  • Vitreoretinopathy


More info about EXUDATIVE VITREORETINOPATHY 4; EVR4

SOURCES: MESH OMIM

POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4

Description

PCLD4 is an autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure (summary by Cnossen et al., 2014).For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (OMIM ).

Most common symptoms of POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4

  • Renal insufficiency
  • Abnormality of the liver
  • Renal cyst
  • Hepatic cysts
  • Polycystic liver disease


More info about POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS; PCLD4

SOURCES: OMIM

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1

Most common symptoms of BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1

  • Osteoporosis
  • Increased bone mineral density
  • Hyperostosis
  • Abnormality of the vertebral column
  • Osteopetrosis


More info about BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1; BMND1

SOURCES: OMIM

OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Description

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Most common symptoms of OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

SOURCES: ORPHANET

LRP5-RELATED PRIMARY OSTEOPOROSIS


Potential gene panels for LRP5 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.

LRP5 (OPPG) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the LRP5 gene.

More info about this panel
United States.

LRP5 Idiopathic Osteoporosis (IOP) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5

More info about this panel
United States.

Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) that also includes the following genes: DNAJB11 SEC63 ALG8 DZIP1L GANAB LRP5 PKD2 PKHD1 PRKCSH

More info about this panel
United States.

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Osteoporosis Pseudoglioma Syndrome Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the LRP5 gene.

More info about this panel
United Kingdom.

Polycystic kidney and liver disease modifier panel Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L

More info about this panel
United Kingdom.

LRP5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Osteopetrosis autosomal dominant type 1 (sequence analysis of LRP5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LRP5 gene.

More info about this panel
Portugal.

Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Isolated Polycystic Liver Disease (PCLD) Sequencing Panel with CNV Detection that also includes the following genes: SEC63 LRP5 PRKCSH

More info about this panel
United States.

Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection that also includes the following genes: ATOH7 CAPN5 RCBTB1 ATP6V0A2 ZNF408 TSPAN12 VCAN CTNNB1 ISPD FZD4

More info about this panel
United States.

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
United States.

Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Polycystic Liver Disease (PLD) Sequencing Panel with CNV Detection that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH

More info about this panel
United States.

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel
United States.

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel
United States.

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

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.

Exudative vitreoretinopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy Deletion / Duplication panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel
United States.

Exudative vitreoretinopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy Comprehensive panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel
United States.

Exudative vitreoretinopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Exudative vitreoretinopathy NGS panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 FZD4 KIF11 LRP5 NDP

More info about this panel
United States.

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Polycystic kidney disease and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders NGS panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel
United States.

Vitreoretinopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy Comprehensive panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel
United States.

Osteogenesis imperfecta Deletion / Duplication panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
United States.

Polycystic liver disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease Comprehensive panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel
United States.

Vitreoretinopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy Deletion / Duplication panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel
United States.

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Osteogenesis imperfecta NGS panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
United States.

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel
United States.

Osteopetrosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Deletion / Duplication panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel
United States.

Polycystic liver disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease Deletion / Duplication panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel
United States.

Polycystic kidney disease and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Deletion / Duplication panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel
United States.

Osteopetrosis and Dense bone dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel
United States.

Osteopetrosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis Comprehensive panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel
United States.

Polycystic liver disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Polycystic liver disease NGS panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel
United States.

Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST

More info about this panel
United States.

Osteopetrosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Osteopetrosis NGS panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 FAM20C FERMT3 CTSK

More info about this panel
United States.

Vitreoretinopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Vitreoretinopathy NGS panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel
United States.

Polycystic kidney disease and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Polycystic kidney disease and related disorders Comprehensive panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD ALG9 ZNF423 INVS SEC61A1 BICC1 OFD1

More info about this panel
United States.

Osteogenesis imperfecta Comprehensive panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
United States.

Osteogenesis imperfecta NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
United States.

Exudative vitreoretinopathy 4 NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Exudative vitreoretinopathy 4 Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteopetrosis, autosomal dominant 1 Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteoporosis-pseudoglioma syndrome Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteoporosis-pseudoglioma syndrome NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Exudative vitreoretinopathy 4 Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteopetrosis, autosomal dominant 1 Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Van Buchem disease, type 2 NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteoporosis-pseudoglioma syndrome Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Van Buchem disease, type 2 Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteopetrosis, autosomal dominant 1 NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Van Buchem disease, type 2 Deletion / Duplication test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus NGS test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Hyperostosis corticalis generalisata, benign form of worth, with torus palatinus Comprehensive test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Osteogenesis imperfecta and osteoporosis - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1

More info about this panel
Germany.

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

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.

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel
Germany.

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel
Germany.

Osteoporosis pseudoglioma syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LRP5 gene.

More info about this panel
Germany.

Vitreoretinopathy and Wagner syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Vitreoretinopathy and Wagner syndrome panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel
Germany.

Familial Exudative Vitreoretinopathy and Wagner syndrome Panel Panel

Germany.

By CeGaT GmbH Familial Exudative Vitreoretinopathy and Wagner syndrome Panel that also includes the following genes: CAPN5 ZNF408 TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel
Germany.

Single gene testing LRP5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the LRP5 gene.

More info about this panel
Germany.

Chondrodysplasia punctata Panel Panel

Germany.

By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: BMP1 TNFRSF11B WNT1 SERPINH1 IFITM5 SP7 FKBP10 ATP6V0A2 P3H1 COL1A2

More info about this panel
Germany.

Skeletal dysplasia with increased bone density Panel Panel

Germany.

By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10

More info about this panel
Germany.

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
Estonia.

Vitreoretinopathy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Vitreoretinopathy that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2

More info about this panel
Estonia.

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Vitreoretinopathy panel Panel

United States.

By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5

More info about this panel
United States.

FEVR Panel Panel

United States.

By Molecular Vision Laboratory FEVR Panel that also includes the following genes: ZNF408 TSPAN12 FZD4 LRP5 NDP

More info about this panel
United States.

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Exudative vitreoretinopathy 4 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LRP5 gene.

More info about this panel
Austria.

Hyperostosis, endosteal Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LRP5 gene.

More info about this panel
Austria.

Osteopetrosis, autosomal dominant 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LRP5 gene.

More info about this panel
Austria.

van Buchem disease, type 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LRP5 gene.

More info about this panel
Austria.

Exudative vitreoretinopathy 4 Panel

Slovakia.

By MedGene

This panel specifically test the LRP5 gene.

More info about this panel
Slovakia.

Hyperostosis, endosteal Panel

Slovakia.

By MedGene

This panel specifically test the LRP5 gene.

More info about this panel
Slovakia.

Osteopetrosis, autosomal dominant 1 Panel

Slovakia.

By MedGene

This panel specifically test the LRP5 gene.

More info about this panel
Slovakia.

van Buchem disease, type 2 Panel

Slovakia.

By MedGene

This panel specifically test the LRP5 gene.

More info about this panel
Slovakia.

Exudative vitreoretinopahty, Familial: LRP5 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Osteopetrosis autosomal dominant: LRP5 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Familial exudative vitreoretinopathy: LRP5, NDP, FZD4 genes deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Familial exudative vitreoretinopathy: LRP5, NDP, FZD4 genes deletions-duplications analysis (MLPA) that also includes the following genes: FZD4 LRP5 NDP

More info about this panel
Spain.

OSTEOGENESIS IMPERFECTA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOGENESIS IMPERFECTA that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 CRTAP ANO5 LRP5

More info about this panel
Spain.

OSTEOPETROSIS Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases OSTEOPETROSIS that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel
Spain.

Vitreoretinopathy and Wagner syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Vitreoretinopathy and Wagner syndrome that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel
Spain.

NGS panel - Osteogenesis Imperfecta and related disorders Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Osteogenesis Imperfecta and related disorders that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP

More info about this panel
Netherlands.

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel
United States.

Vitreoretinopathy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Vitreoretinopathy: Sequencing and Deletion/Duplication Panel that also includes the following genes: TSPAN12 COL11A1 COL9A1 VCAN FZD4 KCNJ13 LRP5 NDP

More info about this panel
United States.

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel that also includes the following genes: TNFRSF11A TYROBP ZMPSTE24 CASR SERPINH1 ANKH IFITM5 SP7 TREM2 FKBP10

More info about this panel
United States.

Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH

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.

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel
United States.

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

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.

Vitreoretinopathy and Wagner Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Vitreoretinopathy and Wagner Syndrome NGS Panel that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

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.

LRP5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRP5 gene.

More info about this panel
United States.

Polycystic Liver Disease Panel Panel

Finland.

By Blueprint Genetics Polycystic Liver Disease Panel that also includes the following genes: SEC63 GANAB LRP5 PKD1 PKD2 PRKCSH

More info about this panel
Finland.

Osteopetrosis and Dense Bone Dysplasia Panel Panel

Finland.

By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10

More info about this panel
Finland.

Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

More info about this panel
Finland.

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel
Finland.

Osteogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel
Finland.

Polycystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Polycystic Kidney Disease Panel that also includes the following genes: SEC63 DZIP1L GANAB JAG1 LRP5 NOTCH2 PKD1 PKD2 PKHD1 PRKCSH

More info about this panel
Finland.

Vitreoretinopathy Panel Panel

Finland.

By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1

More info about this panel
Finland.

Skeletal Dysplasias Core Panel Panel

Finland.

By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1

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.

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.

Exudative vitreoretinopathy type 4 Panel

Spain.

By Bioarray

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Secuenciaci���³n Panel

Spain.

By Bioarray

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Osteopetrosis NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis NGS and Deletion/Duplication Panel that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel
United States.

Osteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Osteopetrosis, Autosomal Dominant Only NGS and Deletion/Duplication Panel that also includes the following genes: CLCN7 LRP5

More info about this panel
United States.

LRP5 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 LRP5 gene.

More info about this panel
United States.

EXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL EXUDATIVE VITREORETINOPATHY (AUTOSOMAL DOMINANT) that also includes the following genes: TSPAN12 FZD4 LRP5

More info about this panel
Spain.

POLYCYSTIC LIVER DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH

More info about this panel
Spain.

HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE) Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPEROSTOSIS CORTICALIS GENERALISATA (VAN BUCHEM DISEASE) that also includes the following genes: SOST LRP5

More info about this panel
Spain.

HYPEROSTOSIS, ENDOSTEAL (WORTH TYPE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

OSTEOPETROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL OSTEOPETROSIS NGS PANEL that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel
Spain.

VITREORETINOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL VITREORETINOPATHY NGS PANEL that also includes the following genes: BEST1 CAPN5 P3H2 ZNF408 TSPAN12 VCAN CTNNB1 FZD4 KCNJ13 LRP5

More info about this panel
Spain.

POLYCYSTIC LIVER DISEASE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE NGS PANEL that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH

More info about this panel
Spain.

Autosomal Dominant Osteopetrosis , Sequencing LRP5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Osteoporosis-Pseudoglioma Syndrome , Sequencing LRP5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Familial Exudative Vitreoretinopathy , Sequencing LRP5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LRP5 gene.

More info about this panel
Spain.

Familial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Exudative Vitreoretinopathy , Deletions-Duplications (MLPA) NDP,LRP5,FZD4 Genes that also includes the following genes: FZD4 LRP5 NDP

More info about this panel
Spain.

Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TCIRG1 TNFRSF11A TNFSF11 CA2 SNX10 CLCN7 OSTM1 PLEKHM1 LRP5

More info about this panel
Spain.

Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Exudative Vitreoretinopathy and Wagner Syndrome , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TSPAN12 VCAN FZD4 LRP5 NDP

More info about this panel
Spain.

Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: VDR CALCR COL1A2 LRP5

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.

Familial Exudative Vitreoretinopathy, Autosomal Dominant: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Familial Exudative Vitreoretinopathy, Autosomal Dominant: gene sequencing panel that also includes the following genes: TSPAN12 FZD4 LRP5

More info about this panel
Canada.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NCAPD3 SLC6A2 FAM177A1 PDCD10 CLN8 UNC93B1 GBA