FGFR3 gene related symptoms and diseases
All the information presented here about the FGFR3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FGFR3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Brachydactyly | Uncommon - Between 30% and 50% cases |
| Acanthosis nigricans | Uncommon - Between 30% and 50% cases |
| Frontal bossing | Uncommon - Between 30% and 50% cases |
| Hydrocephalus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FGFR3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Intellectual disability
- Macrocephaly
- Midface retrusion
- Micromelia
- Proptosis
- Global developmental delay
- Depressed nasal bridge
- Seizures
And 469 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FGFR3 gene
Here you will find a list of rare diseases related to the FGFR3. 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
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
MUENKE SYNDROME
Alternate names
MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis
Description
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
Most common symptoms of MUENKE SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Hypertelorism
More info about MUENKE SYNDROME
HYPOCHONDROPLASIA
Description
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Most common symptoms of HYPOCHONDROPLASIA
- Intellectual disability
- Scoliosis
- Brachydactyly
- Macrocephaly
- Skeletal dysplasia
More info about HYPOCHONDROPLASIA
SOURCES: ORPHANET
ACHONDROPLASIA
Description
Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
Most common symptoms of ACHONDROPLASIA
- Intellectual disability
- Seizures
- Short stature
- Muscular hypotonia
- Depressed nasal bridge
More info about ACHONDROPLASIA
ACHONDROPLASIA; ACH
Description
Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).
Most common symptoms of ACHONDROPLASIA; ACH
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Scoliosis
More info about ACHONDROPLASIA; ACH
CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME
Alternate names
CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome
Description
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
Most common symptoms of CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Microcephaly
- Scoliosis
More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME
CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME
Alternate names
CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome, crouzonodermoskeletal syndrome
Description
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).
Most common symptoms of CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME
- Short stature
- Hypertelorism
- Failure to thrive
- Strabismus
- Cleft palate
More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME
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
GLIOSARCOMA
GIANT CELL GLIOBLASTOMA
TESTICULAR TERATOMA
Alternate names
TESTICULAR TERATOMA Is also known as male germ cell tumor, mgct, teratoma of the testis
Description
Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000).
Most common symptoms of TESTICULAR TERATOMA
- Neoplasm
- Cryptorchidism
- Hydrocephalus
- Abnormality of metabolism/homeostasis
- Carcinoma
More info about TESTICULAR TERATOMA
THANATOPHORIC DYSPLASIA TYPE 1
Alternate names
THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1, td1
Description
Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.
Most common symptoms of THANATOPHORIC DYSPLASIA TYPE 1
- Seizures
- Hearing impairment
- Muscular hypotonia
- Depressed nasal bridge
- Brachydactyly
More info about THANATOPHORIC DYSPLASIA TYPE 1
SOURCES: ORPHANET
THANATOPHORIC DYSPLASIA, TYPE I; TD1
Alternate names
THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia, lethal short-limbed platyspondylic dwarfism, san diego type, thanatophoric dwarfism, td, platyspondylic lethal skeletal dysplasia, san diego type
Description
Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).
Most common symptoms of THANATOPHORIC DYSPLASIA, TYPE I; TD1
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
- Muscular hypotonia
More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1
SOURCES: OMIM
THANATOPHORIC DYSPLASIA TYPE 2
Alternate names
THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2, cloverleaf skull-micromelic bone dysplasia syndrome, thanatophoric dysplasia with kleeblattschaedel, thanatophoric dysplasia with straight femurs and cloverleaf skull, td2, cloverleaf skull with thanatophoric dwarfism, thanatophor
Description
Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).
Most common symptoms of THANATOPHORIC DYSPLASIA TYPE 2
- Seizures
- Short stature
- Hearing impairment
- Muscular hypotonia
- Cognitive impairment
More info about THANATOPHORIC DYSPLASIA TYPE 2
COLORECTAL CANCER; CRC
Alternate names
COLORECTAL CANCER; CRC Is also known as colon cancer
Description
Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013).
Most common symptoms of COLORECTAL CANCER; CRC
- Neoplasm
- Carcinoma
- Oligodontia
- Colon cancer
- Colitis
More info about COLORECTAL CANCER; CRC
SOURCES: OMIM
NEVUS, EPIDERMAL
Alternate names
NEVUS, EPIDERMAL Is also known as nevus, keratinocytic, nonepidermolytic
Description
Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994).A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, {113800}), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994).Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015).Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012).Also see giant pigmented hairy nevus (OMIM ) and malignant melanoma (OMIM ).
Most common symptoms of NEVUS, EPIDERMAL
- Global developmental delay
- Hyperkeratosis
- Palmoplantar keratoderma
- Nevus
- Epidermal acanthosis
More info about NEVUS, EPIDERMAL
SOURCES: OMIM
BLADDER CANCER
Description
The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States. Symptoms include Blood in your urine A frequent urge to urinate Pain when you urinate Low back pain Risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. People with a family history of bladder cancer or who are older, white, or male have a higher risk. Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute
Most common symptoms of BLADDER CANCER
- Neoplasm
- Carcinoma
- Atherosclerosis
- Bladder neoplasm
- Transitional cell carcinoma of the bladder
More info about BLADDER CANCER
ISOLATED PLAGIOCEPHALY
Alternate names
ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis, synostotic plagiocephaly
Description
Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.
Most common symptoms of ISOLATED PLAGIOCEPHALY
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Strabismus
- Macrocephaly
More info about ISOLATED PLAGIOCEPHALY
SOURCES: ORPHANET
CERVICAL CANCER
Description
The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection. Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer. Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday. Vaccines can protect against several types of HPV, including some that can cause cancer. NIH: National Cancer Institute
Most common symptoms of CERVICAL CANCER
- Neoplasm
- Carcinoma
- Squamous cell carcinoma
- Papilloma
- Abnormality of the cervical spine
More info about CERVICAL CANCER
SOURCES: OMIM
SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME
Alternate names
SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan, saddan dysplasia
Description
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).
Most common symptoms of SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME
ISOLATED BRACHYCEPHALY
Alternate names
ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis
Description
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Most common symptoms of ISOLATED BRACHYCEPHALY
- Intellectual disability
- Hearing impairment
- Hypertelorism
- Brachydactyly
- Midface retrusion
More info about ISOLATED BRACHYCEPHALY
SOURCES: ORPHANET
Search interest in FGFR3
Potential gene panels for FGFR3 gene
Achondroplasia Mutation Panel Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the FGFR3 gene.
More info about this panel United States.
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 United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
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 United States.
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
NGS Skeletal Dysplasia Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Skeletal Dysplasia Panel that also includes the following genes: SLC26A2 SOX9 TRPV4 COL1A2 COMP FGFR3 FLNA HSPG2
More info about this panel United States.
FGFR3-related disorders Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the FGFR3 gene.
More info about this panel United States.
LADD Syndrome, FGFR3 Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Skeletal Dysplasia Panel
United States.
By Molecular Pathology Laboratory University of Pennsylvania Health System
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Skeletal Dysplasia Panel
United States.
By Molecular Pathology Laboratory University of Pennsylvania Health System
This panel specifically test the FGFR3 gene.
More info about this panel United States.
FGFR3 Related Disorders Tier 1 (includes Thanatophoric Dysplasias, Types 1 & 2, Achondroplasia, Hypochondroplasia, SADDAN, Crouzon, Muenke) Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FGFR3 gene.
More info about this panel United States.
FGFR3 Related Disorders, Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FGFR3 gene.
More info about this panel United States.
FGFR3 Related Disorders, Del-Dup Targeted Exonic Array Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FGFR3 gene.
More info about this panel United States.
FGFR3 Muenke Syndrome (P250R) Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FGFR3 gene.
More info about this panel United States.
FGFR3 Crouzon Syndrome (A391E) Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FGFR3 gene.
More info about this panel United States.
FGFR3 Saddan (K650M) Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Test for Hypochondroplasia Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
Test for FGFR3-Related Craniosynostosis Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
Test for Achondroplasia Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
Test for Thanatophoric Dysplasia Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
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 United States.
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 United States.
Hypochondroplasia Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Thanatophoric Dysplasia Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Severe Achondroplasia, Developmental Delay, Acanthosis Nigricans Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Achondroplasia Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
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 United States.
Crouzon Syndrome with Acanthosis Nigricans Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
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 United States.
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 United States.
Achondroplasia Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Hypochondroplasia Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Muenke Syndrome - FGFR3 Gene (PRO250ARG) Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Crouzon Syndrome with Acanthosis Nigricans Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the FGFR3 gene.
More info about this panel United States.
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 United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel United States.
Craniosynostosis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43
More info about this panel United States.
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 United States.
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 United States.
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 United States.
FGFR-Related Disorders Panel
New Zealand.
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the FGFR3 gene.
More info about this panel New Zealand.
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 United States.
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 United States.
Thanatophoric Dysplasia I/II, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Thanatophoric Dysplasia I/II Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Hypocondroplasia Panel
Brazil.
By GENE Núcleo de Genética Médica de Minas Gerais
This panel specifically test the FGFR3 gene.
More info about this panel Brazil.
Achondroplasia Panel
Brazil.
By GENE Núcleo de Genética Médica de Minas Gerais
This panel specifically test the FGFR3 gene.
More info about this panel Brazil.
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 United States.
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 United States.
FGFR3. Detection of the mutation p.Ala391Glu Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Detection of the mutations p.Gly375Cys (c.1123G>T), p.Gly380Arg (c.1138G>A and c.1138G>C) by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Detection of the mutation p.Pro250Arg by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SLC26A2 SOX9 COL1A2 CRTAP FGFR3 ALPL
More info about this panel Spain.
FGFR3. Detection of the mutation p.Pro250Arg by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Sequencing of the exons 13 to 15 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Sequencing of the exons 9 and 10 Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
FGFR3. Detection of the mutations p.Arg248Cys, p.Ser249Cys, p.Gly370Cys, p.Ser371Cys, p.Tyr373Cys, p.Lys650Gln and 807codon by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Achondroplasia Hypochondroplasia Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Thanatophoric dysplasia type I and II Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Muenke Syndrome Panel
Spain.
By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Hypochondroplasia Panel
Spain.
By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Achondroplasia Panel
Spain.
By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Coronal Synostosis - FGFR3 Sequence Analysis for p.Pro250Arg Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Saethre-Chotzen Syndrome - TWIST Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Saethre-Chotzen Syndrome - TWIST Sequence Analysis that also includes the following genes: TWIST1 FGFR3
More info about this panel United States.
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 United States.
Achondroplasia (sequence analysis of exon 9 of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
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 Portugal.
Thanatophoric dysplasia Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Achondroplasia (sequence analysis of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Hypochondroplasia (sequence analysis of exons 3, 7, 8, 9, 12 and 14 of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Crouzon Syndrome with Acanthosis Nigricans (sequence analysis of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Hypochondroplasia (sequence analysis of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Lacrimo-Auriculo-Dento-Digital Syndrome (sequence analysis of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Muenke syndrome (Pro250Arg mutation on FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Thanatophoric Dysplasia (sequence analysis of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
Thanatophoric dysplasia (sequence analysis of exons 7, 10, 15 and 19 of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
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 Portugal.
Skeletal dysplasia (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Skeletal dysplasia (NGS panel for 31 genes) that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 P3H1 SBDS SLC35D1 COL10A1
More info about this panel Portugal.
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
More info about this panel Portugal.
Thanatophoric dysplasia (sequence analysis of FGFR3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Portugal.
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 Portugal.
Achondroplasia Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the FGFR3 gene.
More info about this panel India.
FGFR3-Related Craniosynostosis, FGFR3-associated coronal synostosis Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the FGFR3 gene.
More info about this panel India.
Achondroplasia Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the FGFR3 gene.
More info about this panel India.
Thanatophoric Dysplasia (TD) via the FGFR3 Gene Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Hypochondroplasia via the FGFR3 Gene Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FGFR3 gene.
More info about this panel United States.
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 United States.
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 United States.
FGFR3-Related Disorders via FGFR3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FGFR3 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
Achondroplasia via the FGFR3 Gene, Exon 10 Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FGFR3 gene.
More info about this panel United States.
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 United States.
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 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.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Skeletal dysplasia core & extended Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core & extended Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Comprehensive panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Skeletal dysplasia core NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core NGS panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel
United States.
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panel United States.
Skeletal dysplasia core & extended NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core & extended NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 NSDHL TRPV4 SBDS SLC35D1 COL10A1 COL11A1
More info about this panel United States.
Skeletal dysplasia core Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia core Deletion / Duplication panel that also includes the following genes: SLC26A2 SOX9 TRIP11 COL1A2 FGFR3 ALPL INPPL1 NKX3-2
More info about this panel United States.
Thanatophoric dysplasia, type I / II Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Achondroplasia / Hypochondroplasia Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Thanatophoric dysplasia, type I / II Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Camptodactyly, tall stature, and hearing loss syndrome Deletion / Duplication Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Achondroplasia / Hypochondroplasia Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Camptodactyly, tall stature, and hearing loss syndrome Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Camptodactyly, tall stature, and hearing loss syndrome Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Achondroplasia / Hypochondroplasia Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Thanatophoric dysplasia, type I / II Comprehensive Test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
FGFR3-related craniosynostosis Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Camptodactyly, tall stature, and hearing loss syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Hypochondroplasia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Thanatophoric dysplasia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
FGFR3-related lacrimo-auriculo-dento-digital syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
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 Germany.
Achondroplasia Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FGFR3 gene.
More info about this panel Argentina.
Hypochondroplasia Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FGFR3 gene.
More info about this panel Argentina.
Thanatophoric Dysplasia Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the FGFR3 gene.
More info about this panel Argentina.
Thanatophoric Dysplasia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the FGFR3 gene.
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.
Malformations of Cortical Development Panel
Germany.
By MGZ Medical Genetics Center Malformations of Cortical Development that also includes the following genes: RYR2 TGFB3 TRDN EFHC1 DES TMEM43 DSC2 DSG2 DSP FGFR3
More info about this panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
FGFR3-Related Craniosynostosis Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Thanatophoric Dysplasia Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Hypochondroplasia Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia Panel
Switzerland.
By Labor Molekulargenetik, Abteilung Medizinische Genetik University Hospital Basel
This panel specifically test the FGFR3 gene.
More info about this panel Switzerland.
FGFR3 related disorders Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the FGFR3 gene.
More info about this panel India.
Thanatophoric Dysplasia Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the FGFR3 gene.
More info about this panel India.
Skeletal Dysplasia Panel Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the FGFR3 gene.
More info about this panel India.
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 Germany.
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 Germany.
Colorectal cancer, somatic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Bladder cancer, somatic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Nevus, epidermal, somatic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Cervical cancer, somatic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Spermatocytic seminoma, somatic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
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 Germany.
Crouzon syndrome with acanthosis nigricans Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
FGFR3-related craniosynostosis Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Thanatophoric dysplasia Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Achondroplasia common mutation Panel
Israel.
By Medical Genetics Institute Shaare Zedek Medical Center
This panel specifically test the FGFR3 gene.
More info about this panel Israel.
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 Germany.
Single gene testing FGFR3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
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 Germany.
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel
Germany.
By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43
More info about this panel Germany.
Metaphyseal dysplasia Panel Panel
Germany.
By CeGaT GmbH Metaphyseal dysplasia Panel that also includes the following genes: RMRP RUNX2 SBDS COL10A1 FGFR3 MMP13 MMP9 PTH1R
More info about this panel Germany.
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 Germany.
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 Germany.
Hypochondroplasia Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the FGFR3 gene.
More info about this panel Poland.
Hypochondroplasia (FGFR3) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Thanatophoric Dysplasia (FGFR3) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
FGFR3-related craniosynostosis (Muenke syndrome, FGFR3 p.Pro250Arg) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN, FGFR3) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Crouzon Syndrome with Acanthosis Nigricans (FGFR3) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
Skeletal Ciliopathies Panel
Estonia.
By Asper Biogene Asper Biogene LLC Skeletal Ciliopathies that also includes the following genes: IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 COMP TCTN3 DYNC2LI1 TTC21B
More info about this panel Estonia.
FGFR3 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the FGFR3 gene.
More info about this panel United States.
FGFR3, Pro250Arg mutation Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Achondroplasia Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Hypochondroplasia Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Thanatophoric Dysplasia Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
FGFR3-Related Craniosynostosis Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
Hypochondroplasia Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
Achondroplasia Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
Achondroplasia Panel
United States.
By Molecular and Cytogenetic Diagnostic Laboratories Genetics Center
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Hypochondroplasia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FGFR3 gene.
More info about this panel Austria.
Muenke syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FGFR3 gene.
More info about this panel Austria.
Thanatophoric dysplasia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the FGFR3 gene.
More info about this panel Austria.
FGFR3 Targeted Mutation Analysis Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the FGFR3 gene.
More info about this panel Colombia.
Achondroplasia Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the FGFR3 gene.
More info about this panel Colombia.
FGFR3 gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the FGFR3 gene.
More info about this panel Colombia.
FGFR3 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the FGFR3 gene.
More info about this panel Austria.
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 Spain.
Hypochondroplasia Panel
Slovakia.
By MedGene
This panel specifically test the FGFR3 gene.
More info about this panel Slovakia.
Muenke syndrome Panel
Slovakia.
By MedGene
This panel specifically test the FGFR3 gene.
More info about this panel Slovakia.
Thanatophoric dysplasia Panel
Slovakia.
By MedGene
This panel specifically test the FGFR3 gene.
More info about this panel Slovakia.
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 United States.
Invitae FGFR3-Related Disorders Test Panel
United States.
By Invitae
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Achondroplasia: FGFR3 gene mutation analysis (c.G1138A, c.G1138C) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Thanatophoric dysplasia: FGFR3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
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 Spain.
Hypochondroplasia: FGFR3 gene mutation analysis (N540K) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Hypochondroplasia: FGFR3 gene sequence analysis (exons 7, 8, 11, 13) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME that also includes the following genes: RIT1 SHOX BRAF SOS1 SPRY2 SRC CD2AP GAB2 CBL SHOC2
More info about this panel Spain.
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 Spain.
Skeletal dysplasias Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Skeletal dysplasias that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
FGFR3 - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the FGFR3 gene.
More info about this panel Netherlands.
Disproportionate Short Stature: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panel United States.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
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 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.
Disproportionate Short Stature: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panel United States.
Hearing Loss: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
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.
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 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.
FGFR3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Achondroplasia Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Achondroplasia Mutation Analysis (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the FGFR3 gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
More info about this panel Finland.
Metaphyseal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Metaphyseal Dysplasia Panel that also includes the following genes: RMRP RUNX2 ANKH CDKN1C SBDS COL10A1 FGFR3 FLNA MMP13 MMP9
More info about this panel Finland.
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 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.
Micromelic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panel Finland.
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.
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 United States.
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 United States.
Crouzon syndrome - acanthosis nigricans Panel
Spain.
By Bioarray
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Thanatophoric dwarfism type II Panel
Spain.
By Bioarray
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Hypochondroplasia Panel
Spain.
By Bioarray
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Muenke syndrome Panel
Spain.
By Bioarray
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Achondroplasia Panel
Spain.
By Bioarray
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
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 United States.
Nevus Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Nevus Gene Set that also includes the following genes: FGFR3 GNA11 GNAQ HRAS KRAS NRAS PIK3CA
More info about this panel United States.
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 United States.
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 United States.
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 United States.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
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 United States.
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 United States.
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 Greece.
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 United States.
Mutation analysis of Achondroplasia Panel
India.
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics
This panel specifically test the FGFR3 gene.
More info about this panel India.
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 United States.
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 United States.
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 United States.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
ACHONDROPLASIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
SADDAN DYSPLASIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
THANATOPHORIC DYSPLASIA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
CRANIOSYNOSTOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS that also includes the following genes: FGFR1 FGFR2 FGFR3
More info about this panel Spain.
CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
FGFR3 - Gene sequencing Panel
Brazil.
By Genera
This panel specifically test the FGFR3 gene.
More info about this panel Brazil.
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 United States.
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 United States.
Muenke Syndrome , Sequencing FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Crouzon Syndrome with Acanthosis Nigricans , Sequencing FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Thanatophoric Dysplasia Type 2 , Sequencing FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
SADDAN Dysplasia , Sequencing FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Thanatophoric Dysplasia Type 1 , Sequencing FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Hypochondroplasia, Sequencing FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Achondroplasia (Prenatal Diagnosis), Mutation (1138 G>A) FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Achondroplasia, Mutation (1138 G/A) FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Hypochondroplasia, Sequencing Exons (7, 8, 11, 13) FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Hypochondroplasia (Prenatal Diagnosis), Mutation (N540K) FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Hypochondroplasia, Mutation (N540K) FGFR3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FGFR3 gene.
More info about this panel Spain.
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes Panel
Spain.
By Reference Laboratory Genetics Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CCN6 NSDHL TRPV4 SBDS EVC2 SLC35D1
More info about this panel Spain.
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 Spain.
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 Spain.
Crouzon syndrome with acanthosis nigricans Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
Muenke syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the FGFR3 gene.
More info about this panel Germany.
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 United States.
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 United States.
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.
Muenke Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FGFR3 gene.
More info about this panel Canada.
Hypochondroplasia: targeted gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FGFR3 gene.
More info about this panel Canada.
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 Canada.
Thanatophoric Dysplasia: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FGFR3 gene.
More info about this panel Canada.
FGFR3-related craniosynostosis: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FGFR3 gene.
More info about this panel Canada.
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 United States.
PrimBio Colorectal Cancer Panel Panel
United States.
By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2
More info about this panel United States.
Achondroplasia Panel
India.
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the FGFR3 gene.
More info about this panel India.
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