FGFR2 gene related symptoms and diseases

All the information presented here about the FGFR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FGFR2 gene

Symptoms // Phenotype % Cases
Hypertelorism Very Common - Between 80% and 100% cases
Proptosis Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Craniosynostosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with FGFR2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Depressed nasal bridge
  • Not very common - Between 30% and 50% cases

  • Choanal atresia
  • High forehead
  • Strabismus
  • Toe syndactyly
  • Hydrocephalus
  • Low-set ears
  • Mandibular prognathia

And 373 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FGFR2 gene

Here you will find a list of rare diseases related to the FGFR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LACRIMOAURICULODENTODIGITAL SYNDROME


Alternate names

LACRIMOAURICULODENTODIGITAL SYNDROME Is also known as ladd syndrome, levy-hollister syndrome, lacrimoauriculoradiodental syndrome, lard syndrome

Description

Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.

Most common symptoms of LACRIMOAURICULODENTODIGITAL SYNDROME

  • Irritability
  • Autoimmunity
  • Carious teeth
  • Epiphora
  • Keratoconjunctivitis sicca


More info about LACRIMOAURICULODENTODIGITAL SYNDROME

SOURCES: OMIM ORPHANET

LACRIMOAURICULODENTODIGITAL SYNDROME; LADD


Alternate names

LACRIMOAURICULODENTODIGITAL SYNDROME; LADD Is also known as ladd syndrome, levy-hollister syndrome

Description

Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).

Most common symptoms of LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


More info about LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

SOURCES: OMIM

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME


Alternate names

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome, cutis gyrata syndrome of beare and stevenson, beare-stevenson cutis gyrata syndrome

Description

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

Most common symptoms of CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

SOURCES: MESH OMIM ORPHANET

APERT SYNDROME


Alternate names

APERT SYNDROME Is also known as acrocephalosyndactyly type 1, acrocephalosyndactyly, type i, acs i, acs1

Description

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

Most common symptoms of APERT SYNDROME

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


More info about APERT SYNDROME

SOURCES: ORPHANET

SAETHRE-CHOTZEN SYNDROME


Alternate names

SAETHRE-CHOTZEN SYNDROME Is also known as acs3, acrocephalosyndactyly type 3, scs, acrocephaly, skull asymmetry, and mild syndactyly, acs iii, acrocephalosyndactyly, type iii, chotzen syndrome

Description

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

Most common symptoms of SAETHRE-CHOTZEN SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about SAETHRE-CHOTZEN SYNDROME

SOURCES: OMIM ORPHANET

PFEIFFER SYNDROME


Alternate names

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v, noack syndrome, acs5, acs v

Description

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

Most common symptoms of PFEIFFER SYNDROME

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


More info about PFEIFFER SYNDROME

SOURCES: MESH OMIM

ANTLEY-BIXLER SYNDROME


Description

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Most common symptoms of ANTLEY-BIXLER SYNDROME

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


More info about ANTLEY-BIXLER SYNDROME

SOURCES: ORPHANET

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


Alternate names

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures, osteodysgenesis, multisynostotic, with fractures, trapezoidocephaly-synostosis syndrome

Description

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Most common symptoms of ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

SOURCES: ORPHANET OMIM

CROUZON DISEASE


Alternate names

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis, craniofacial dysostosis, type i, cfd1

Description

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

Most common symptoms of CROUZON DISEASE

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


More info about CROUZON DISEASE

SOURCES: OMIM ORPHANET

JACKSON-WEISS SYNDROME


Alternate names

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome, jws

Description

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

Most common symptoms of JACKSON-WEISS SYNDROME

  • Hypertelorism
  • Strabismus
  • Ptosis
  • Frontal bossing
  • Midface retrusion


More info about JACKSON-WEISS SYNDROME

SOURCES: OMIM ORPHANET

JACKSON-WEISS SYNDROME; JWS


Alternate names

JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Most common symptoms of JACKSON-WEISS SYNDROME; JWS

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


More info about JACKSON-WEISS SYNDROME; JWS

SOURCES: MESH OMIM

FGFR2-RELATED BENT BONE DYSPLASIA


Alternate names

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Description

FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

Most common symptoms of FGFR2-RELATED BENT BONE DYSPLASIA

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


More info about FGFR2-RELATED BENT BONE DYSPLASIA

SOURCES: ORPHANET OMIM

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE


Alternate names

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Description

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

Most common symptoms of FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

SOURCES: MESH OMIM ORPHANET

GASTRIC CANCER


Description

In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer.Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see {120435}), familial adenomatous polyposis (FAP ), Peutz-Jeghers syndrome (PJS ), Cowden disease (CD ), and the Li-Fraumeni syndrome (OMIM ). See also hereditary diffuse gastric cancer (HDGC ).Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see {600263}).

Most common symptoms of GASTRIC CANCER

  • Neoplasm
  • Carcinoma
  • Nephroblastoma
  • Colon cancer
  • Neoplasm of the lung


More info about GASTRIC CANCER

SOURCES: OMIM ORPHANET

PFEIFFER SYNDROME TYPE 1


Alternate names

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Description

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

Most common symptoms of PFEIFFER SYNDROME TYPE 1

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


More info about PFEIFFER SYNDROME TYPE 1

SOURCES: ORPHANET

PFEIFFER SYNDROME TYPE 2


Description

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Most common symptoms of PFEIFFER SYNDROME TYPE 2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


More info about PFEIFFER SYNDROME TYPE 2

SOURCES: ORPHANET

PFEIFFER SYNDROME TYPE 3


Description

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Most common symptoms of PFEIFFER SYNDROME TYPE 3

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


More info about PFEIFFER SYNDROME TYPE 3

SOURCES: ORPHANET


Potential gene panels for FGFR2 gene

PreSeek Non-invasive Prenatal Gene Sequencing Screen Panel

United States.

By Baylor Miraca Genetics Laboratories PreSeek Non-invasive Prenatal Gene Sequencing Screen that also includes the following genes: RIT1 BRAF SMC1A SOS1 SOS2 CDKL5 SYNGAP1 TSC1 TSC2 HDAC8

More info about this panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

NGS Craniosynostosis Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 FGFR1 FGFR2 MSX2 POR RECQL4

More info about this panel

FGFR2-related disorders Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the FGFR2 gene.

More info about this panel

Fibroblast Growth Factor Receptor 2 (FGFR2)-related Disorders Sequencing Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the FGFR2 gene.

More info about this panel

LADD Syndrome, FGFR2 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the FGFR2 gene.

More info about this panel

Apert Syndrome - FGFR2 Targeted Mutation Testing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the FGFR2 gene.

More info about this panel

Beare-Stevenson Syndrome - FGFR2 Targeted Mutations Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2-Related disorders - Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2-Related disorders - Del/Dup Analysis Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the FGFR2 gene.

More info about this panel

Test for FGFR2-Related Craniosynostosis Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the FGFR2 gene.

More info about this panel

Test for Pfeiffer syndrome Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Test for Pfeiffer syndrome that also includes the following genes: FGFR1 FGFR2

More info about this panel

Saethre-Chotzen Syndrome Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Saethre-Chotzen Syndrome that also includes the following genes: TWIST1 FGFR2 FGFR3

More info about this panel

Pfeiffer Syndrome Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Pfeiffer Syndrome that also includes the following genes: FGFR1 FGFR2 FGFR3

More info about this panel

Antley-Bixler Like Syndrome (FGFR2 related) Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital

This panel specifically test the FGFR2 gene.

More info about this panel

Apert Syndrome Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital

This panel specifically test the FGFR2 gene.

More info about this panel

Non-Syndromic Coronal Craniosynostosis Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Non-Syndromic Coronal Craniosynostosis that also includes the following genes: FGFR2 FGFR3

More info about this panel

Jackson-Weiss Syndrome Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Jackson-Weiss Syndrome that also includes the following genes: FGFR2 FGFR3

More info about this panel

Crouzon Syndrome Panel

United States.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Crouzon Syndrome that also includes the following genes: FGFR2 FGFR3

More info about this panel

Apert Syndrome - FGFR2 Exon 8 Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the FGFR2 gene.

More info about this panel

Craniodysmorphology Screen (Targeted FGFR1,2, and 3) Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital Craniodysmorphology Screen (Targeted FGFR1,2, and 3) that also includes the following genes: FGFR1 FGFR2 FGFR3

More info about this panel

Craniodysmorphology Panel (FGFR1,2,3,TWIST) Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital Craniodysmorphology Panel (FGFR1,2,3,TWIST) that also includes the following genes: TWIST1 FGFR2

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

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

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

Craniofacial Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Craniofacial Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

More info about this panel

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

Apert Syndrome, Crouzon Syndrome, Pfeiffer Syndrome Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2. Detection of the mutations p.Ser252Trp and p.Pro253Arg by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS that also includes the following genes: TRIP11 EVC2 COL11A1 COL11A2 COMP EVC FGFR2

More info about this panel

FGFR2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2. Sequencing of the exons 8 and 10 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2. Sequencing of the exon 2 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FGFR2 gene.

More info about this panel

Crouzon Syndrome Panel

Spain.

By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.

This panel specifically test the FGFR2 gene.

More info about this panel

Apert Syndrome - FGFR2 Sequence Analysis of Exon 8 Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FGFR2 gene.

More info about this panel

Craniosynostosis Crouzon Syndrome - FGFR2 Sequence Analysis for Exons 8 and 10 Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FGFR2 gene.

More info about this panel

Craniosynostosis Crouzon/Pfeiffer Syndrome - FGFR2 Level II Sequence Analysis for Exons 3, 4, 11, and 14-17 Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FGFR2 gene.

More info about this panel

Craniosynostosis Crouzon/Pfeiffer Syndrome - FGFR2 Known Point Mutation Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer Syndrome - FGFR1 Exon 5 and FGFR2 Exons 8 and 10 Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pfeiffer Syndrome - FGFR1 Exon 5 and FGFR2 Exons 8 and 10 Sequence Analysis that also includes the following genes: FGFR1 FGFR2

More info about this panel

Craniosynostosis Next Generation Sequencing Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Next Generation Sequencing Panel that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

FGFR-Related Craniosynostosis Syndromes Panel

Portugal.

By CGC Genetics FGFR-Related Craniosynostosis Syndromes that also includes the following genes: FGFR2 FGFR3

More info about this panel

Crouzon syndrome (sequence analysis of FGFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Craniosynostosis (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 4 genes) that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis (NGS panel for 30 genes) Panel

Portugal.

By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1

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Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes) Panel

Portugal.

By CGC Genetics Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes) that also includes the following genes: FGFR1 FGFR2

More info about this panel

Saethre-Chotzen syndrome (sequence analysis of FGFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Apert syndrome (sequence analysis of FGFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel

Portugal.

By CGC Genetics Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) that also includes the following genes: RUNX2 TWIST1 ALX1 EFNB1 FGFR1 FGFR2 FGFR3 ALX3 ALX4 MSX2

More info about this panel

Crouzon syndrome (deletions/duplications analysis of FGFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer syndrome (deletions/duplications analysis of FGFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

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Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Crouzon syndrome (deletions/duplications analysis of FGFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer syndrome (deletions/duplications analysis of FGFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Portugal.

By CGC Genetics Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) that also includes the following genes: BMP4 VSX1 PXDN B3GLCT COL4A1 CYP1B1 MIR184 SLC38A8 FGFR2 FOXC1

More info about this panel

Septooptic dysplasia (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2

More info about this panel

FGFR2-Related Craniosynostosis Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the FGFR2 gene.

More info about this panel

Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 SMC1A TCF12 TCOF1 TWIST1 HDAC8 SRCAP POLR1C POLR1D CREBBP

More info about this panel

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel

FGFR2-Related Disorders via FGFR2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FGFR2 gene.

More info about this panel

Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: SLC26A2 SOX9 IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B WDR34 IFT140

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

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

Craniosynostosis core NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis core NGS panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis core Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis core Comprehensive panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis core Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis core Deletion / Duplication panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

Craniosynostosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19

More info about this panel

FGFR2 related craniosynostosis NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2 related craniosynostosis Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FGFR2 gene.

More info about this panel

Bent bone dysplasia syndrome Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2 related craniosynostosis Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FGFR2 gene.

More info about this panel

Bent bone dysplasia syndrome NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FGFR2 gene.

More info about this panel

Bent bone dysplasia syndrome Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2-related lacrimo-auriculo-dento-digital syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2-related craniosynostosis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the FGFR2 gene.

More info about this panel

Saethre-chotzen syndrome, FGFR2-related Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the FGFR2 gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

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

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

FGFR2-Related Craniosynostosis Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel

Solid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A

More info about this panel

Antley-Bixler syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Apert syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

LADD syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Saethre-Chotzen syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Scaphocephaly, maxillary retrusion, and mental retardation Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Gastric cancer, somatic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 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

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

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

Craniofacial-skeletal-dermatologic dysplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Beare-Stevenson cutis gyrata syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Bent bone dysplasia syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

Jackson-Weiss syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2-Related Craniosynostosis Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the FGFR2 gene.

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Septo-optical dysplasia Panel Panel

Germany.

By CeGaT GmbH Septo-optical dysplasia Panel that also includes the following genes: SOX2 SOX3 PROKR2 TAX1BP3 FGFR2 HESX1 OTX2

More info about this panel

Single gene testing FGFR2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FGFR2 gene.

More info about this panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel

Craniosynostosis syndromes Panel Panel

Germany.

By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1

More info about this panel

Potentially lethal skeletal disorders Panel Panel

Germany.

By CeGaT GmbH Potentially lethal skeletal disorders Panel that also includes the following genes: SLC26A2 SOX9 TRIP11 WNT7A NSDHL TRPV4 P3H1 CANT1 SLC35D1 COL11A1

More info about this panel

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel

FGFR2-Related Craniosynostosis Panel

Spain.

By Medical Genetics Unit Sistemas Genómicos

This panel specifically test the FGFR2 gene.

More info about this panel

Skeletal Dysplasia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Skeletal Dysplasia that also includes the following genes: ROR2 SLC26A2 SOX9 TRIP11 WNT5A ESCO2 FGFR2 FGFR3 ALPL

More info about this panel

Craniosynostosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Craniosynostosis that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3 IL11RA MSX2 RECQL4

More info about this panel

FGFR2 sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2-Related Craniosynostosis Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the FGFR2 gene.

More info about this panel

Saethre-Chotzen Syndrome, FGFR2-Related Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2-Related Craniosynostosis Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the FGFR2 gene.

More info about this panel

Beare-Stevenson syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FGFR2 gene.

More info about this panel

Crouzon syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FGFR2 gene.

More info about this panel

Jackson-Weiss syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the FGFR2 gene.

More info about this panel

FGFR2 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the FGFR2 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Beare-Stevenson syndrome Panel

Slovakia.

By MedGene

This panel specifically test the FGFR2 gene.

More info about this panel

Crouzon syndrome Panel

Slovakia.

By MedGene

This panel specifically test the FGFR2 gene.

More info about this panel

Jackson-Weiss syndrome Panel

Slovakia.

By MedGene

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer syndrome Panel

Slovakia.

By MedGene

This panel specifically test the FGFR2 gene.

More info about this panel

Invitae Craniosynostosis Panel Panel

United States.

By Invitae Invitae Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 MEGF8 ERF FGFR1 FGFR2 FGFR3 GLI3 MSX2

More info about this panel

Craniosynostosis: FGFR1 gene (exon 7), FGFR2 gene (exon 7) and FGFR3 gene (exons 6, 8) sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosynostosis: FGFR1 gene (exon 7), FGFR2 gene (exon 7) and FGFR3 gene (exons 6, 8) sequence analysis that also includes the following genes: FGFR1 FGFR2 FGFR3

More info about this panel

Craniosynostosis: FGFR2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer syndrome: FGFR1 gene (exon 7) and FGFR2 gene (exons 7-8, 13-15) screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Pfeiffer syndrome: FGFR1 gene (exon 7) and FGFR2 gene (exons 7-8, 13-15) screening that also includes the following genes: FGFR1 FGFR2

More info about this panel

Jackson-Weiss syndrome: FGFR2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the FGFR2 gene.

More info about this panel

Craniosysostosis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43

More info about this panel

FGFR2 - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the FGFR2 gene.

More info about this panel

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

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel

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

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

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

FGFR-Related Craniosynostosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics FGFR-Related Craniosynostosis NGS Panel that also includes the following genes: FGFR1 FGFR2 FGFR3

More info about this panel

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

FGFR2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

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

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

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

Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel

United States.

By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10

More info about this panel

Focus::Oncomine™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Oncomine™ NGS Panel that also includes the following genes: ROS1 BRAF SMO CDK4 CTNNB1 DDR2 EGFR ERBB2 ERBB3 ERBB4

More info about this panel

Apert syndrome Panel

Spain.

By Bioarray

This panel specifically test the FGFR2 gene.

More info about this panel

Crouzon disease Panel

Spain.

By Bioarray

This panel specifically test the FGFR2 gene.

More info about this panel

Antley-Bixler syndrome Panel

Spain.

By Bioarray

This panel specifically test the FGFR2 gene.

More info about this panel

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel

CNS Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1

More info about this panel

Melanoma Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1

More info about this panel

Breast Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Breast Tumors Gene Set that also includes the following genes: RUNX1 BRAF BRCA1 BRCA2 STK11 TP53 FBXW7 RAD54B CDH1 CDK4

More info about this panel

Genitourinary Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1

More info about this panel

Gynecologic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Guardant360 Panel

United States.

By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A

More info about this panel

Comprehensive Panel for Individualized Cancer Threatment Panel

Greece.

By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1

More info about this panel

Cancer Hotspot Analysis Panel

United States.

By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel

Circulo Breast Panel

United States.

By Circulogene Theranostics

This panel specifically test the FGFR2 gene.

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel

ANTLEY-BIXLER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ANTLEY-BIXLER SYNDROME that also includes the following genes: FGFR2 POR

More info about this panel

CROUZON SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FGFR2 gene.

More info about this panel

JACKSON-WEISS SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FGFR2 gene.

More info about this panel

PFEIFFER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL PFEIFFER SYNDROME that also includes the following genes: FGFR1 FGFR2

More info about this panel

CRANIOSYNOSTOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS that also includes the following genes: FGFR1 FGFR2 FGFR3

More info about this panel

CRANIOSYNOSTOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1

More info about this panel

SKELETAL DYSPLASIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SKELETAL DYSPLASIA NGS PANEL that also includes the following genes: SLC26A2 SOX9 TRIP11 TRPV4 EVC2 SLC35D1 COL10A1 COL11A1 COL11A2 COL1A2

More info about this panel

Solid Tumor Targeted Mutation and Fusion Panel Panel

United States.

By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Craniosynostosis, Sequencing FGFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Antley-Bixler (Skeletal Form) Syndrome, Sequencing FGFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Jackson-Weiss Syndrome , Sequencing FGFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Apert Syndrome , Sequencing FGFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Apert Syndrome, Deletions-Duplications (MLPA) FGFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FGFR2 gene.

More info about this panel

Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Panel

Spain.

By Reference Laboratory Genetics Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TWIST1 RAB23 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2 POR

More info about this panel

Lacrimoauriculodentodigital Syndrome (LADD) , Panel Massive Sequencing (NGS) FGF10, FGFR2, FGFR3 Genes Panel

Spain.

By Reference Laboratory Genetics Lacrimoauriculodentodigital Syndrome (LADD) , Panel Massive Sequencing (NGS) FGF10, FGFR2, FGFR3 Genes that also includes the following genes: FGF10 FGFR2 FGFR3

More info about this panel

Jackson-Weiss syndrome Panel

Germany.

By Labor Dr. Wisplinghoff Jackson-Weiss syndrome that also includes the following genes: FGFR1 FGFR2

More info about this panel

Crouzon syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the FGFR2 gene.

More info about this panel

Pfeiffer syndrome Panel

Germany.

By Labor Dr. Wisplinghoff Pfeiffer syndrome that also includes the following genes: FGFR1 FGFR2

More info about this panel

Saethre-Chotzen syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the FGFR2 gene.

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

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

CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16

More info about this panel

CEN4GEN Gastric cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Gastric cancer: Extended gene sequencing Panel that also includes the following genes: BRCA2 SSTR1 STK11 TP53 TRIO TRRAP WNK2 CCNE1 FBXW7 SPEG

More info about this panel

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A

More info about this panel

CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Solid tumors (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 SMO STK11 TP53 VHL WT1 CDKN2A CTNNB1

More info about this panel

CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel

FGFR2-related craniosynostosis: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FGFR2 gene.

More info about this panel

PrimBio Cancer HotSpot Panel Panel

United States.

By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel


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