PIK3CA gene related symptoms and diseases

All the information presented here about the PIK3CA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PIK3CA gene

Symptoms // Phenotype % Cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Nevus Rare - less than 30% cases
Pain Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with PIK3CA gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Intellectual disability
  • Scoliosis
  • Breast carcinoma
  • Global developmental delay
  • Hemimegalencephaly
  • Overgrowth
  • Ovarian neoplasm
  • Failure to thrive

And 407 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PIK3CA gene

Here you will find a list of rare diseases related to the PIK3CA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LYNCH SYNDROME


Alternate names

LYNCH SYNDROME Is also known as coca2, colon cancer, familial nonpolyposis, type 2, fcc2

Most common symptoms of LYNCH SYNDROME

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


More info about LYNCH SYNDROME

SOURCES: ORPHANET OMIM

CLOVES SYNDROME


Alternate names

CLOVES SYNDROME Is also known as cloves syndrome, congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome, congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome, clove syndrome, congenital lipomatous overgrowth,

Description

CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

Most common symptoms of CLOVES SYNDROME

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


More info about CLOVES SYNDROME

SOURCES: MESH ORPHANET OMIM

KERATOSIS, SEBORRHEIC


Description

Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body.

Most common symptoms of KERATOSIS, SEBORRHEIC

  • Nevus
  • Basal cell carcinoma
  • Verrucae
  • Seborrheic keratosis


More info about KERATOSIS, SEBORRHEIC

SOURCES: OMIM

HEMIMEGALENCEPHALY


Alternate names

HEMIMEGALENCEPHALY Is also known as unilateral megalencephaly

Description

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.

Most common symptoms of HEMIMEGALENCEPHALY

  • Seizures
  • Paralysis
  • Nevus
  • Neurofibromas
  • Hemimegalencephaly


More info about HEMIMEGALENCEPHALY

SOURCES: MESH ORPHANET

PEDIATRIC HEPATOCELLULAR CARCINOMA


Alternate names

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer, lcc, childhood-onset hcc, hcc, liver cell carcinoma, hepatoma, cancer, hepatocellular, childhood-onset hepatocellular carcinoma, pediatric hcc

Description

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

Most common symptoms of PEDIATRIC HEPATOCELLULAR CARCINOMA

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

SOURCES: OMIM ORPHANET

COWDEN SYNDROME


Alternate names

COWDEN SYNDROME Is also known as bzs, cowden disease, bbrs, macrocephaly, multiple lipomas, and hemangiomata, pten hamartoma tumor syndrome with granular cell tumor, bannayan-zonana syndrome, macrocephaly, pseudopapilledema, and multiple hemangiomata, cs, cd, mham, pten hamartoma tumor syndrome, ri

Description

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

Most common symptoms of COWDEN SYNDROME

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


More info about COWDEN SYNDROME

SOURCES: ORPHANET OMIM

LUNG CANCER


Description

Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).

Most common symptoms of LUNG CANCER

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Diarrhea


More info about LUNG CANCER

SOURCES: OMIM

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Alternate names

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome, macrocephaly-capillary malformation syndrome, mcmtc, mcap, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, mcm

Description

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

Most common symptoms of MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

SOURCES: ORPHANET

CUTIS MARMORATA TELANGIECTATICA CONGENITA


Alternate names

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita, cmtc, mcmtc, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita, mcm, macrocephaly-capillary malformation

Description

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Most common symptoms of CUTIS MARMORATA TELANGIECTATICA CONGENITA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

SOURCES: OMIM ORPHANET

NEUROBLASTOMA


Description

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Most common symptoms of NEUROBLASTOMA

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


More info about NEUROBLASTOMA

SOURCES: ORPHANET OMIM

OVARIAN CANCER


Description

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Most common symptoms of OVARIAN CANCER

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Vomiting


More info about OVARIAN CANCER

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

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

BREAST CANCER


Alternate names

BREAST CANCER Is also known as breast cancer, familial

Description

Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

Most common symptoms of BREAST CANCER

  • Neoplasm
  • Pain
  • Carcinoma
  • Gynecomastia
  • Breast carcinoma


More info about BREAST CANCER

SOURCES: ORPHANET OMIM

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME


Alternate names

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME Is also known as hhml

Description

Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

Most common symptoms of HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


More info about HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

SOURCES: ORPHANET

COWDEN SYNDROME 5; CWS5


Most common symptoms of COWDEN SYNDROME 5; CWS5

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


More info about COWDEN SYNDROME 5; CWS5

SOURCES: OMIM

GASTRIC CANCER


Description

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

Most common symptoms of GASTRIC CANCER

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


More info about GASTRIC CANCER

SOURCES: OMIM ORPHANET

ADULT HEPATOCELLULAR CARCINOMA


Alternate names

ADULT HEPATOCELLULAR CARCINOMA Is also known as adult hcc

Description

Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.


More info about ADULT HEPATOCELLULAR CARCINOMA

SOURCES: ORPHANET

MACRODACTYLY OF FINGERS, UNILATERAL


Alternate names

MACRODACTYLY OF FINGERS, UNILATERAL Is also known as macrodactyly of hand, unilateral


More info about MACRODACTYLY OF FINGERS, UNILATERAL

SOURCES: ORPHANET

MACRODACTYLY OF TOES, UNILATERAL


Alternate names

MACRODACTYLY OF TOES, UNILATERAL Is also known as macrodactyly of foot, unilateral


More info about MACRODACTYLY OF TOES, UNILATERAL

SOURCES: ORPHANET

SEGMENTAL PROGRESSIVE OVERGROWTH SYNDROME WITH FIBROADIPOSE HYPERPLASIA



More info about SEGMENTAL PROGRESSIVE OVERGROWTH SYNDROME WITH FIBROADIPOSE HYPERPLASIA

SOURCES: ORPHANET


Potential gene panels for PIK3CA gene

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

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

PIK3CA sequence analysis (Somatic) Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine

This panel specifically test the PIK3CA gene.

More info about this panel

Somatic Overgrowth Gene Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Somatic Overgrowth Gene Panel that also includes the following genes: AKT1 AKT2 AKT3 MTOR GNA11 GNAQ PIK3CA PIK3R2

More info about this panel

PIK3CA Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the PIK3CA gene.

More info about this panel

Hereditary Thyroid Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Thyroid Cancer Panel that also includes the following genes: SDHB SDHD TP53 WRN DICER1 SRGAP1 AKT1 APC PIK3CA PRKAR1A

More info about this panel

PIK3CA Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PIK3CA gene.

More info about this panel

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2

More info about this panel

Segmental Overgrowth Disorders - NGS panel (8 genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Segmental Overgrowth Disorders - NGS panel (8 genes) that also includes the following genes: TSC1 TSC2 AKT1 AKT3 MTOR PIK3CA PIK3R2 PTEN

More info about this panel

PIK3CA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PIK3CA gene.

More info about this panel

Macrocephaly (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Macrocephaly (NGS panel for 16 genes) that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA

More info about this panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2

More info about this panel

Cowden syndrome type 5 (sequence analysis of PIK3CA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PIK3CA gene.

More info about this panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) that also includes the following genes: NPRL3 CCND2 DEPDC5 EZH2 AKT3 MTOR PIK3CA PIK3R2

More info about this panel

Cowden syndrome type 5 (sequence analysis of PIK3CA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PIK3CA gene.

More info about this panel

Cowden and Cowden-like Syndromes via PIK3CA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PIK3CA gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

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

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

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

More info about this panel

Colorectal adenocarcinoma, somatic mutation sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Colorectal adenocarcinoma, somatic mutation sequencing panel that also includes the following genes: BRAF KRAS NRAS PIK3CA

More info about this panel

Custom solid tumor gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A

More info about this panel

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

Mental Retardation and Dysmorphology - panels Panel

Germany.

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

More info about this panel

Syndromal Diseases - panels Panel

Germany.

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

More info about this panel

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

Megalencephaly Panel

Germany.

By MGZ Medical Genetics Center Megalencephaly that also includes the following genes: TSC1 TSC2 CCND2 AKT1 AKT3 PIK3CA PIK3R2 PTEN

More info about this panel

Cancer Hotspot Panel Panel

Germany.

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

More info about this panel

Solid Tumor Panel Panel

Germany.

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

More info about this panel

CLOVE syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PIK3CA gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

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

Familial Tumor Syndromes Panel Panel

Germany.

By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

Macrocephaly Panel Panel

Germany.

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3

More info about this panel

Neuronal Migration Disorders Panel Panel

Germany.

By CeGaT GmbH Neuronal Migration Disorders Panel that also includes the following genes: SNAP29 MED12 TUBA8 TUBG1 VLDLR ACTB RXYLT1 DCHS1 RAB18 ACTG1

More info about this panel

Macrocephaly Panel Panel

Germany.

By CeGaT GmbH Macrocephaly Panel that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GCDH GFAP GPC3

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

RASopathies Panel Panel

Germany.

By CeGaT GmbH RASopathies Panel that also includes the following genes: RIT1 RRAS BRAF SOS1 CBL SHOC2 CCND2 STAMBP SPRED1 A2ML1

More info about this panel

CLOVE syndrome, somatic (PIK3CA) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PIK3CA gene.

More info about this panel

PIK3CA-Related Segmental Overgrowth (Cowden Syndrome 5): PIK3CA gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PIK3CA gene.

More info about this panel

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

Melanoma: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Melanoma: Sequencing Panel that also includes the following genes: BRAF WRN CDK4 CDKN2A GNAQ KIT KRAS MAP2K1 NRAS PIK3CA

More info about this panel

PIK3CA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIK3CA gene.

More info about this panel

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

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

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Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

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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

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Lymphatic Malformations and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Lymphatic Malformations and Related Disorders Panel that also includes the following genes: SOX18 GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 KIF11 PIK3CA

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Vascular Malformations Panel Panel

Finland.

By Blueprint Genetics Vascular Malformations Panel that also includes the following genes: SOX18 TEK GLMN KRIT1 STAMBP ELMO2 ACVRL1 CCM2 ENG SMAD4

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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

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PIK3CA Mutation by Sequencing Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc.

This panel specifically test the PIK3CA gene.

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Liquid::Lung-cfDNA™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Liquid::Lung-cfDNA™ NGS Panel that also includes the following genes: ROS1 BRAF TP53 EGFR ERBB2 ALK KRAS MAP2K1 MET NRAS

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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

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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

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Somatic Overgrowth Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Somatic Overgrowth Gene Set that also includes the following genes: SMO TSC1 TSC2 AKT1 AKT2 AKT3 MTOR GNA11 GNAQ IDH1

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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

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PIK3CA-Related Overgrowth Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis

This panel specifically test the PIK3CA gene.

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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

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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

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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

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Breast Tumors Gene Set Panel

United States.

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

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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

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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

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Head & Neck Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A

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Cowden Syndrome NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Cowden Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: SDHB SDHD AKT1 PIK3CA PTEN

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PIK3CA 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 PIK3CA gene.

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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

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Guardant360 Panel

United States.

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

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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

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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

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Circulo Colorectal Panel

United States.

By Circulogene Theranostics

This panel specifically test the PIK3CA gene.

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Circulo Lung Panel

United States.

By Circulogene Theranostics

This panel specifically test the PIK3CA gene.

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Circulo Breast Panel

United States.

By Circulogene Theranostics

This panel specifically test the PIK3CA gene.

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Circulo Melanoma Panel

United States.

By Circulogene Theranostics

This panel specifically test the PIK3CA gene.

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Circulo Gastric Panel

United States.

By Circulogene Theranostics

This panel specifically test the PIK3CA gene.

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Circulo Ovarian Panel

United States.

By Circulogene Theranostics

This panel specifically test the PIK3CA gene.

More info about this panel

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

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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

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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

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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

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COWDEN DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL COWDEN DISEASE that also includes the following genes: SDHB SDHC SDHD SEC23B BMPR1A AKT1S1 PIK3CA PTEN RASAL1

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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

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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

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Cowden Syndrome, Sequencing PIK3CA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PIK3CA gene.

More info about this panel

Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome , Sequencing PIK3CA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PIK3CA gene.

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Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes Panel

Spain.

By Reference Laboratory Genetics Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes that also includes the following genes: MED12 NSD1 MLC1 HEPACAM DHCR24 EZH2 AKT3 GFAP GPC3 ASPA

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Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel

Spain.

By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM

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Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: BRAF BRCA2 TP53 EGFR ERBB2 IDH1 IDH2 LGI1 PRKN PIK3CA

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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

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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

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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

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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

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CEN4GEN Breast cancer: Extended gene sequencing Panel Panel

Canada.

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

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CEN4GEN Colorectal cancer: Extended Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Colorectal cancer: Extended Sequencing Panel that also includes the following genes: BRAF TCF7L2 TGFBR2 TP53 CASP8 TCERG1 GALNT17 FBXW7 ACVR1B CDC27

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CEN4GEN Gastric cancer: Extended gene sequencing Panel Panel

Canada.

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

More info about this panel

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

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

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CEN4GEN Ovarian cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Ovarian cancer: Extended gene sequencing Panel that also includes the following genes: BRAF BRCA1 BRCA2 ARID1A TP53 USP16 MAS1L CCNE1 CBLC KREMEN1

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CEN4GEN Prostate cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Prostate cancer: Extended gene sequencing Panel that also includes the following genes: SCN11A SPOP TBX20 MED12 TP53 NIPA2 PDZRN3 CDKN1B CDKN2A KLF6

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

Canada.

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

More info about this panel

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

Canada.

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

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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

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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

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