PTCH1 gene related symptoms and diseases
All the information presented here about the PTCH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PTCH1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Hydrocephalus | Uncommon - Between 30% and 50% cases |
| Epicanthus | Uncommon - Between 30% and 50% cases |
| Strabismus | Uncommon - Between 30% and 50% cases |
| Cataract | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PTCH1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Palmar pits
- Plantar pits
- Iris coloboma
- Oral cleft
- Microphthalmia
- Neoplasm
- Hypertelorism
- Frontal bossing
And 205 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PTCH1 gene
Here you will find a list of rare diseases related to the PTCH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HOLOPROSENCEPHALY 7; HPE7
Description
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).
Most common symptoms of HOLOPROSENCEPHALY 7; HPE7
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Hypertelorism
More info about HOLOPROSENCEPHALY 7; HPE7
GORLIN SYNDROME
Alternate names
GORLIN SYNDROME Is also known as nbccs, basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome
Description
Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.
Most common symptoms of GORLIN SYNDROME
- Intellectual disability
- Scoliosis
- Hypertelorism
- Neoplasm
- Strabismus
More info about GORLIN SYNDROME
SOURCES: ORPHANET
BASAL CELL NEVUS SYNDROME; BCNS
Alternate names
BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome, gorlin-goltz syndrome, gorlin syndrome, nbccs, multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
Most common symptoms of BASAL CELL NEVUS SYNDROME; BCNS
- Intellectual disability
- Hearing impairment
- Microcephaly
- Scoliosis
- Ataxia
More info about BASAL CELL NEVUS SYNDROME; BCNS
SOURCES: OMIM
GASTROINTESTINAL STROMAL TUMOR
Alternate names
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist
Description
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Most common symptoms of GASTROINTESTINAL STROMAL TUMOR
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
More info about GASTROINTESTINAL STROMAL TUMOR
MONOSOMY 9Q22.3
Alternate names
MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3
Description
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.
Most common symptoms of MONOSOMY 9Q22.3
- Intellectual disability
- Seizures
- Global developmental delay
- Strabismus
- Muscular hypotonia
More info about MONOSOMY 9Q22.3
SEMILOBAR HOLOPROSENCEPHALY
Description
Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
More info about SEMILOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
SEPTOPREOPTIC HOLOPROSENCEPHALY
Alternate names
SEPTOPREOPTIC HOLOPROSENCEPHALY Is also known as septopreoptic hpe
Description
Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.
More info about SEPTOPREOPTIC HOLOPROSENCEPHALY
SOURCES: ORPHANET
LOBAR HOLOPROSENCEPHALY
Description
Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.
More info about LOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
ALOBAR HOLOPROSENCEPHALY
Description
Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.
More info about ALOBAR HOLOPROSENCEPHALY
SOURCES: ORPHANET
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY
Alternate names
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY Is also known as mihf, mihv, middle interhemispheric variant of holoprosencephaly, mih, mih type hpe, syntelencephaly, middle interhemispheric fusion variant
Description
Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.
More info about MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY
SOURCES: ORPHANET
Search interest in PTCH1
Potential gene panels for PTCH1 gene
Hereditary Brain, CNS, PNS Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Hereditary Brain, CNS, PNS Cancer Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MRE11 MSH2
More info about this panel United States.
Hereditary Brain, CNS, PNS Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Hereditary Brain, CNS, PNS Cancer Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MRE11 MSH2
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
United States.
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panel United States.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
NGS Overgrowth/Macrocephaly Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3
More info about this panel United States.
Inherited Cancer Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2
More info about this panel United States.
Comprehensive Brain Malformation Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panel United States.
Holoprosencephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Holoprosencephaly that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panel United States.
Macrocephaly Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Macrocephaly that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 NFIX PIK3CA PTCH1
More info about this panel United States.
VistaSeq Brain/CNS/PNS Cancer Panel Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta VistaSeq Brain/CNS/PNS Cancer Panel that also includes the following genes: SMARCB1 TP53 VHL SUFU ALK APC MEN1 MLH1 MSH2 MSH6
More info about this panel Canada.
Holoprosencephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Holoprosencephaly Sequencing Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1
More info about this panel United States.
Holoprosencephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Holoprosencephaly Deletion/Duplication Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1
More info about this panel United States.
Holoprosencephaly Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panel United States.
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: SHH SIX3 TGIF1 ZIC2 DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panel United States.
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.
Hereditary Cancer Panel - Neuro17 Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Neuro17 that also includes the following genes: TP53 TSC1 TSC2 VHL SUFU ALK APC MEN1 MLH1 MSH2
More info about this panel United States.
Hereditary Cancer Panel- Comprehensive63 Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11
More info about this panel United States.
BrainTumorNext Panel
United States.
By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1
More info about this panel United States.
CancerNext-Expanded Panel
United States.
By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
CustomNext: Cancer Panel
United States.
By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
PTCH1 gene sequence and deletion/duplication Panel
United States.
By Ambry Genetics
This panel specifically test the PTCH1 gene.
More info about this panel United States.
PTCH1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
PTCH1. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
PTCH1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panel United States.
Hereditary Brain Tumor Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Brain Tumor Panel that also includes the following genes: SMARCB1 TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2
More info about this panel United States.
Holoprosencephaly (deletions/ duplications on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes) Panel
Portugal.
By CGC Genetics Holoprosencephaly (deletions/ duplications on PTCH, SHH, ZIC2, SIX3, TGIF, TMEM1 and FBXW11 genes) that also includes the following genes: SHH SIX3 TGIF1 TRAPPC10 ZIC2 FBXW11 PTCH1
More info about this panel Portugal.
Holoprosencephaly (NGS panel for 9 genes) Panel
Portugal.
By CGC Genetics Holoprosencephaly (NGS panel for 9 genes) that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1
More info about this panel Portugal.
Gorlin-Goltz syndrome (sequence analysis of PTCH1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PTCH1 gene.
More info about this panel Portugal.
Gorlin-Goltz syndrome (deletion/duplication analysis of PTCH1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PTCH1 gene.
More info about this panel Portugal.
OncoRisk Plus (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Portugal.
Medulloblastoma (sequence analysis of PTCH1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PTCH1 gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via PTCH1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PTCH1 gene.
More info about this panel United States.
Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panel United States.
Holoprosencephaly-7 (Autosomal Dominant, Nonsyndromic) via PTCH1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PTCH1 gene.
More info about this panel United States.
Basal cell nevus syndrome Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Basal cell nevus syndrome Deletion/ Duplication panel that also includes the following genes: SUFU PTCH1 PTCH2
More info about this panel United States.
Basal cell nevus syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Basal cell nevus syndrome Comprehensive panel that also includes the following genes: SUFU PTCH1 PTCH2
More info about this panel United States.
Basal cell nevus syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Basal cell nevus syndrome NGS panel that also includes the following genes: SUFU PTCH1 PTCH2
More info about this panel United States.
Basal cell nevus syndrome - PTCH1 Comprehensive test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PTCH1 gene.
More info about this panel United States.
Basal cell nevus syndrome - PTCH1 NGS test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PTCH1 gene.
More info about this panel United States.
Basal cell nevus syndrome - PTCH1 Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests
This panel specifically test the PTCH1 gene.
More info about this panel United States.
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.
Macrocephaly Panel
Germany.
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Germany.
Nevoid Basal Cell Carcinoma Syndrome Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PTCH1 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.
Hereditary Cancer Syndromes - panels Panel
Germany.
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
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.
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.
Holoprosencephaly Panel
Germany.
By MGZ Medical Genetics Center Holoprosencephaly that also includes the following genes: CDON DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1
More info about this panel Germany.
Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel Panel
United States.
By FirmaLab Holoprosencephaly (Autosomal Dominant, Nonsyndromic) Sequential Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 GLI1 PTCH1
More info about this panel United States.
Holoprosencephaly panel Panel
Germany.
By Centogene AG - the Rare Disease Company Holoprosencephaly panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1
More info about this panel Germany.
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.
Basal cell nevus syndrome, Gorlin syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PTCH1 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.
Disorders associated with malignancy Panel Panel
Germany.
By CeGaT GmbH Disorders associated with malignancy Panel that also includes the following genes: BLM SDHB SDHD STK11 TERC TERT TINF2 TSC1 TSC2 XPA
More info about this panel Germany.
Holoprosencephaly Panel Panel
Germany.
By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1
More info about this panel Germany.
Breast and Ovarian Cancer - extended Diagnostic Panel Panel
Germany.
By CeGaT GmbH Breast and Ovarian Cancer - extended Diagnostic Panel that also includes the following genes: SDHB SDHC SDHD BRCA1 BRCA2 STK11 EPCAM TP53 XRCC2 CDH1
More info about this panel Germany.
Holoprosencephaly Panel Panel
Germany.
By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1
More info about this panel Germany.
Single gene testing PTCH1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PTCH1 gene.
More info about this panel Germany.
Breast and Ovarian Cancer Panel
Estonia.
By Asper Biogene Asper Biogene LLC Breast and Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 STK11 TP53 XRCC2 CHD1 BRIP1 PALB2 MEN1 MLH1
More info about this panel Estonia.
Cancer Predisposition Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel Estonia.
PTCH1-Related Holoprosencephaly Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the PTCH1 gene.
More info about this panel Netherlands.
Basal Cell Nevus Syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PTCH1 gene.
More info about this panel Austria.
Holoprosencephaly 7 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PTCH1 gene.
More info about this panel Austria.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
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.
Basal Cell Nevus Syndrome Panel
Slovakia.
By MedGene
This panel specifically test the PTCH1 gene.
More info about this panel Slovakia.
Holoprosencephaly 7 Panel
Slovakia.
By MedGene
This panel specifically test the PTCH1 gene.
More info about this panel Slovakia.
Invitae Sarcoma Panel Panel
United States.
By Invitae Invitae Sarcoma Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panel United States.
Invitae Multi-Cancer Panel Panel
United States.
By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Invitae Nervous System/Brain Cancer Panel Panel
United States.
By Invitae Invitae Nervous System/Brain Cancer Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1
More info about this panel United States.
Invitae Pediatric Nervous System/Brain Tumors Panel Panel
United States.
By Invitae Invitae Pediatric Nervous System/Brain Tumors Panel that also includes the following genes: SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1 ALK
More info about this panel United States.
Invitae Pediatric Solid Tumors Panel Panel
United States.
By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11
More info about this panel United States.
Invitae Basal Cell Nevus Syndrome Panel Panel
United States.
By Invitae Invitae Basal Cell Nevus Syndrome Panel that also includes the following genes: SUFU PTCH1
More info about this panel United States.
Gorlin syndrome: PTCH1 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
Gorlin syndrome: PTCH1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
Holoprosencephaly 7: PTCH1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
HOLOPROSENCEPHALY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HOLOPROSENCEPHALY that also includes the following genes: SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL
More info about this panel Spain.
ONCOLOGY, PANEL Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panel Spain.
PTCH1 - Gene Sequencing & Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the PTCH1 gene.
More info about this panel Netherlands.
Macrocephaly: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macrocephaly: Sequencing Panel that also includes the following genes: MED12 NSD1 PHF6 UPF3B CUL4B EZH2 GLI3 GPC3 NFIX PTCH1
More info about this panel United States.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Hereditary Cancer Syndrome: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panel United States.
Brain, CNS, and PNS Cancer: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain, CNS, and PNS Cancer: Sequencing Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6
More info about this panel United States.
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain, CNS, and PNS Cancer: Deletion/Duplication Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6
More info about this panel United States.
Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
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.
Hereditary Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel United States.
Holoproscencephaly NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Holoproscencephaly NGS Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1
More info about this panel United States.
PTCH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PTCH1 gene.
More info about this panel United States.
Focus Cancer Panel - 40 Genes Panel
United States.
By Fulgent Genetics Fulgent Genetics Focus Cancer Panel - 40 Genes that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL CDH1 CDK4 CDKN2A
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.
Nervous System / Brain Cancer Comprehensive Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nervous System / Brain Cancer Comprehensive Panel that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1 TSC2 VHL SUFU DICER1
More info about this panel United States.
Comprehensive Cancer Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel United States.
Sarcoma Comprehensive Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Sarcoma Comprehensive Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1
More info about this panel United States.
Hemato-oncology chromosomal microarray Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panel United States.
Holoprosencephaly Panel Panel
Finland.
By Blueprint Genetics Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 FOXH1 GLI2 GLI3
More info about this panel Finland.
Hereditary Pediatric Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Macrocephaly / Overgrowth Syndrome Panel Panel
Finland.
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panel Finland.
Hereditary Melanoma and Skin Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Melanoma and Skin Cancer Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN XPA XPC SUFU POT1 CDK4 CDKN2A
More info about this panel Finland.
Focus::Renal® NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL
More info about this panel United States.
Gorlin syndrome Panel
Spain.
By Bioarray
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
Holoprosencephaly type 7 Panel
Spain.
By Bioarray
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
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 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.
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel that also includes the following genes: NSD1 CDKN1C TMCO1 SETD2 RNF135 DIS3L2 DNMT3A EZH2 GPC3 NFIX
More info about this panel United States.
PTCH1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PTCH1 gene.
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
iGene Cancer Panel Panel
United States.
By ApolloGen, Inc. iGene Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 TP53 VHL CDH1 CDKN2A BRIP1 PALB2
More info about this panel United States.
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.
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 Hereditary Cancers Panel
United States.
By Otogenetics Otogenetics Hereditary Cancers that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL ELAC2 PALLD CDH1
More info about this panel United States.
HOLOPROSENCEPHALY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY NGS PANEL that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1
More info about this panel Spain.
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.
Holoprosencephaly Type 7 , Sequencing PTCH1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
Gorlin Syndrome, Sequencing PTCH1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
Gorlin Syndrome, Deletions-Duplications (MLPA) PTCH1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PTCH1 gene.
More info about this panel Spain.
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
Spain.
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Spain.
Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 NODAL PTCH1
More info about this panel Spain.
Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes Panel
Spain.
By Reference Laboratory Genetics Hereditary Sarcoma (Susceptibility to) , Panel Massive Sequencing (NGS) 25 Genes that also includes the following genes: BLM SDHB SDHC SDHD EPCAM TP53 WRN SUFU DICER1 CDKN1C
More info about this panel Spain.
Basal Cell Nevus Syndrome , Panel Massive Sequencing (NGS) PTCH1, PTCH2, SUFU Genes Panel
Spain.
By Reference Laboratory Genetics Basal Cell Nevus Syndrome , Panel Massive Sequencing (NGS) PTCH1, PTCH2, SUFU Genes that also includes the following genes: SUFU PTCH1 PTCH2
More info about this panel Spain.
Phosphorus Brain and Nervous System Cancer Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1
More info about this panel United States.
Phosphorus Pan-Cancer Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
Phosphorus Pediatric Cancers Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM
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.
Brain, CNS, and PNS Cancer: Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Brain, CNS, and PNS Cancer: Sequencing Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6
More info about this panel Canada.
Brain, CNS, and PNS Cancer: Deletion/Duplication Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Brain, CNS, and PNS Cancer: Deletion/Duplication Panel that also includes the following genes: TP53 VHL SUFU PALB2 ALK APC MEN1 MLH1 MSH2 MSH6
More info about this panel Canada.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panel Canada.
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 Canada.
Hereditary Cancer Syndrome: Gene Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panel Canada.
Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panel Canada.
Nevoid Basal Cell Carcinoma Syndrome: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nevoid Basal Cell Carcinoma Syndrome: gene sequencing panel that also includes the following genes: SUFU PTCH1
More info about this panel Canada.
Nevoid Basal Cell Carcinoma Syndrome: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nevoid Basal Cell Carcinoma Syndrome: gene deletion/duplication that also includes the following genes: SUFU PTCH1
More info about this panel Canada.
Holoprosencephaly: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Holoprosencephaly: gene sequencing panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1
More info about this panel Canada.
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