KIT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to KIT gene

Symptoms // Phenotype % Cases
Neoplasm Rare - less than 30% cases
Cutaneous mastocytosis Rare - less than 30% cases
Urticaria Rare - less than 30% cases
Anemia Rare - less than 30% cases
Abnormal blistering of the skin Rare - less than 30% cases

Other less frequent symptoms and clinical features

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

  • Leukemia
  • Pain
  • Fatigue
  • Abdominal pain
  • Weight loss
  • Sarcoma
  • Hypermelanotic macule
  • Pruritus

And 163 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KIT gene

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


ACUTE PROMYELOCYTIC LEUKEMIA


Alternate names

ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic

Description

Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

  • Leukemia
  • Acute promyelocytic leukemia
  • Abnormal granulocytopoietic cell morphology


More info about ACUTE PROMYELOCYTIC LEUKEMIA

SOURCES: OMIM ORPHANET MESH

PIEBALDISM


Alternate names

PIEBALDISM Is also known as piebaldism

Description

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

Most common symptoms of PIEBALDISM

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Neoplasm


More info about PIEBALDISM

SOURCES: OMIM MESH ORPHANET

TESTICULAR SEMINOMATOUS GERM CELL TUMOR


Alternate names

TESTICULAR SEMINOMATOUS GERM CELL TUMOR Is also known as seminomatous germ cell tumor of testis, testicular seminoma, seminoma of testis

Description

Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.


More info about TESTICULAR SEMINOMATOUS GERM CELL TUMOR

SOURCES: ORPHANET

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). Genetic Heterogeneity of Testicular Germ Cell TumorsA locus for testicular germ cell tumors (TGCT1 ) has been identified on chromosome Xq27.

Most common symptoms of TESTICULAR TERATOMA

  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus
  • Abnormality of metabolism/homeostasis
  • Carcinoma


More info about TESTICULAR TERATOMA

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET MESH

ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22)


Alternate names

ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22) Is also known as aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)


More info about ACUTE MYELOID LEUKEMIA WITH ABNORMAL BONE MARROW EOSINOPHILS INV(16)(P13Q22) OR T(16;16)(P13;Q22)

SOURCES: ORPHANET

ACUTE MYELOBLASTIC LEUKEMIA WITH MATURATION


Alternate names

ACUTE MYELOBLASTIC LEUKEMIA WITH MATURATION Is also known as acute myeloblastic leukemia m2, aml m2

Description

Acute myeloblastic leukemia with maturation is a rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.


More info about ACUTE MYELOBLASTIC LEUKEMIA WITH MATURATION

SOURCES: ORPHANET

LEUKEMIA, ACUTE MYELOID; AML


Alternate names

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


More info about LEUKEMIA, ACUTE MYELOID; AML

SOURCES: OMIM ORPHANET

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE


Alternate names

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE Is also known as systemic mastocytosis with associated hematologic neoplasm, sm-ahnmd, sm-ahn

Description

Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

Most common symptoms of SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

  • Eosinophilia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Chronic myelogenous leukemia
  • Non-Hodgkin lymphoma


More info about SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

SOURCES: ORPHANET

MASTOCYTOSIS, CUTANEOUS; MASTC


Alternate names

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous, mastocytosis, diffuse cutaneous, urticaria pigmentosa

Description

Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

Most common symptoms of MASTOCYTOSIS, CUTANEOUS; MASTC

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


More info about MASTOCYTOSIS, CUTANEOUS; MASTC

SOURCES: OMIM ORPHANET

CUTANEOUS MASTOCYTOMA


Alternate names

CUTANEOUS MASTOCYTOMA Is also known as solitary mastocytoma, cutaneous local mastocytoma, multiple mastocytoma

Description

Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.

Most common symptoms of CUTANEOUS MASTOCYTOMA

  • Headache
  • Abdominal pain
  • Pruritus
  • Abnormality of skin pigmentation
  • Abnormal blistering of the skin


More info about CUTANEOUS MASTOCYTOMA

SOURCES: ORPHANET

TELANGIECTASIA MACULARIS ERUPTIVA PERSTANS



More info about TELANGIECTASIA MACULARIS ERUPTIVA PERSTANS

SOURCES: ORPHANET

ACUTE MYELOID LEUKEMIA WITH T(8;21)(Q22;Q22) TRANSLOCATION


Alternate names

ACUTE MYELOID LEUKEMIA WITH T(8;21)(Q22;Q22) TRANSLOCATION Is also known as aml with t(8;21)(q22;q22) translocation


More info about ACUTE MYELOID LEUKEMIA WITH T(8;21)(Q22;Q22) TRANSLOCATION

SOURCES: ORPHANET

TYPICAL URTICARIA PIGMENTOSA



More info about TYPICAL URTICARIA PIGMENTOSA

SOURCES: ORPHANET

PLAQUE-FORM URTICARIA PIGMENTOSA



More info about PLAQUE-FORM URTICARIA PIGMENTOSA

SOURCES: ORPHANET

NODULAR URTICARIA PIGMENTOSA



More info about NODULAR URTICARIA PIGMENTOSA

SOURCES: ORPHANET

SMOULDERING SYSTEMIC MASTOCYTOSIS


Description

Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM; see this term). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.


More info about SMOULDERING SYSTEMIC MASTOCYTOSIS

SOURCES: ORPHANET

ISOLATED BONE MARROW MASTOCYTOSIS



More info about ISOLATED BONE MARROW MASTOCYTOSIS

SOURCES: ORPHANET

LYMPHOADENOPATHIC MASTOCYTOSIS WITH EOSINOPHILIA



More info about LYMPHOADENOPATHIC MASTOCYTOSIS WITH EOSINOPHILIA

SOURCES: ORPHANET

CLASSIC MAST CELL LEUKEMIA


Description

Classic mast cell leukemia is a very rare, aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells (>20%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.


More info about CLASSIC MAST CELL LEUKEMIA

SOURCES: ORPHANET

ALEUKEMIC MAST CELL LEUKEMIA


Description

Aleukemic mast cell leukemia is a very rare, aggressive form of systemic mastocytosis characterized by abnormal growth and proliferation of neoplastic mast cells (<10%) in the bone marrow and/or blood, as well as other tissues such as the liver, peritoneum, spleen or bones. Patients typically present with symptoms related to mast cell activation (e.g. hot flushes, fever, malaise, diarrhea, tachycardia), weight loss, anorexia, hepatosplenomegaly or, less frequently, cutaneous mastocytosis. Gastroduodenal ulcers (often complicated by hemorrhage), ascites and portal hypertension have also been reported.


More info about ALEUKEMIC MAST CELL LEUKEMIA

SOURCES: ORPHANET

BULLOUS DIFFUSE CUTANEOUS MASTOCYTOSIS


Alternate names

BULLOUS DIFFUSE CUTANEOUS MASTOCYTOSIS Is also known as bullous dcm

Description

Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.

Most common symptoms of BULLOUS DIFFUSE CUTANEOUS MASTOCYTOSIS

  • Pruritus
  • Abnormal blistering of the skin
  • Urticaria
  • Erythroderma
  • Cardiorespiratory arrest


More info about BULLOUS DIFFUSE CUTANEOUS MASTOCYTOSIS

SOURCES: ORPHANET

PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS


Alternate names

PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS Is also known as infiltrative small vesicular dcm, infiltrative small vesicular diffuse cutaneous mastocytosis, pseudoxanthomatous dcm

Description

Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.

Most common symptoms of PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS

  • Abnormal blistering of the skin
  • Cutaneous mastocytosis


More info about PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS

SOURCES: ORPHANET


Potential gene panels for KIT gene

KIT related disorders - KIT Sequencing Panel

United States.

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

This panel specifically test the KIT gene.

More info about this panel

KIT Mutation Analysis Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories

This panel specifically test the KIT gene.

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Hereditary Gastric Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Gastric Cancer Panel that also includes the following genes: SDHB SDHC BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CTNNA1

More info about this panel

KIT. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KIT gene.

More info about this panel

Hereditary Colorectal and Gastrointestinal Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Colorectal and Gastrointestinal Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 CDH1 CDK4 CDKN2A PALB2

More info about this panel

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

Gastrointestinal stromal tumor (GIST, sequence analysis of exons 9, 11, 13 and 17 of KIT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KIT gene.

More info about this panel

Sequence analysis of exon 11 of KIT gene Panel

Portugal.

By CGC Genetics

This panel specifically test the KIT gene.

More info about this panel

Acute myeloid leukemia (AML, sequence analysis of exons 8, 11 and 17 of c-KIT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KIT gene.

More info about this panel

Piebaldism (sequence analysis of KIT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KIT gene.

More info about this panel

Mast cell leukemia (sequence analysis of exon 17 of c-KIT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KIT gene.

More info about this panel

Sarcoma (sequence analysis of exons 9, 11, 13 and 17 of KIT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KIT gene.

More info about this panel

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

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

Piebaldism and Familial Gastrointestinal Stromal Tumors (GISTs) via KIT Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KIT gene.

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

Gastrointestinal Stromal Tumor, somatic mutation sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Gastrointestinal Stromal Tumor, somatic mutation sequencing panel that also includes the following genes: KIT PDGFRA

More info about this panel

KIT mutation testing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the KIT gene.

More info about this panel

Melanoma, somatic mutation sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Melanoma, somatic mutation sequencing panel that also includes the following genes: BRAF GNA11 GNAQ KIT NRAS

More info about this panel

Gastrointestinal Stromal Tumor – Basic Diagnostics Panel

Germany.

By MGZ Medical Genetics Center Gastrointestinal Stromal Tumor – Basic Diagnostics that also includes the following genes: SDHB SDHC SDHD KIT NF1 PRKAR1A

More info about this panel

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

Gastrointestinal Stromal Tumor Panel

Germany.

By MGZ Medical Genetics Center Gastrointestinal Stromal Tumor that also includes the following genes: SDHB SDHC SDHD SMARCB1 SDHAF2 TMEM127 KIT MAX MEN1 NF1

More info about this panel

Myeloid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

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

KIT, selective sequencing of exons 8, 9, 11, 13 and 17 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KIT gene.

More info about this panel

Leukemia, acute myeloid Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KIT gene.

More info about this panel

Germ cell tumors, somatic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KIT gene.

More info about this panel

Gastrointestinal stromal tumor Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KIT gene.

More info about this panel

Gastro-intestinal Stromal Tumour (KIT & PDGFRA) Panel

United Kingdom.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust Gastro-intestinal Stromal Tumour (KIT & PDGFRA) that also includes the following genes: KIT PDGFRA

More info about this panel

Gastrointestinal stromal tumor Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital Gastrointestinal stromal tumor that also includes the following genes: KIT PDGFRA

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

Single gene testing KIT Panel

Germany.

By CeGaT GmbH

This panel specifically test the KIT gene.

More info about this panel

Gastrointestinal Stromal Tumor Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the KIT gene.

More info about this panel

KIT Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the KIT gene.

More info about this panel

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

Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel

United States.

By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

Neurocutaneous Panel Panel

United States.

By Molecular Vision Laboratory Neurocutaneous Panel that also includes the following genes: TSC1 TSC2 VHL SPRED1 KIT NF1 NF2

More info about this panel

Neurofibromatosis panel Panel

United States.

By Molecular Vision Laboratory Neurofibromatosis panel that also includes the following genes: SPRED1 KIT NF1

More info about this panel

GIST Melanoma Panel (5 genes) PDGFRA, KIT, NRAS, KRAS, BRAF Panel

Canada.

By Advanced Molecular Diagnostics Mount Sinai Hospital GIST Melanoma Panel (5 genes) PDGFRA, KIT, NRAS, KRAS, BRAF that also includes the following genes: BRAF KIT KRAS NRAS PDGFRA

More info about this panel

KIT Exons 8 and 17 Mutation Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the KIT gene.

More info about this panel

NGS HemeOnc Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti NGS HemeOnc Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 WT1 CBL SETBP1 PHF6 ASXL1

More info about this panel

KIT Sequencing of Selected Exons Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the KIT gene.

More info about this panel

Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) Panel

United States.

By Invitae Invitae Common Hereditary Cancers Panel (Breast, Gyn, GI) that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11 EPCAM

More info about this panel

Invitae Gastric Cancer Panel Panel

United States.

By Invitae Invitae Gastric Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD BMPR1A STK11 EPCAM TP53 CDH1 APC

More info about this panel

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

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

Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel Panel

United States.

By Invitae Invitae Familial Gastrointestinal Stromal Tumor Syndrome Panel that also includes the following genes: SDHA SDHB SDHC SDHD KIT NF1 PDGFRA

More info about this panel

Gastrointestinal stromal tumour: KIT gene (exons 9,11) and PDGFRA gene (exons 12,18) sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Gastrointestinal stromal tumour: KIT gene (exons 9,11) and PDGFRA gene (exons 12,18) sequence analysis that also includes the following genes: KIT PDGFRA

More info about this panel

Gastrointestinal stromal tumour: KIT gene sequence analysis (exons 13,17) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KIT gene.

More info about this panel

Piebaldism: KIT gene sequence analysis (exons 2 and 3) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KIT gene.

More info about this panel

Piebaldism: KIT gene sequence analysis (exons 9, 11, 13 and 17) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KIT gene.

More info about this panel

Piebaldism: KIT gene sequence analysis (exon 10) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KIT gene.

More info about this panel

KIT: KIT gene mutation analysis (p.D816V) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the KIT gene.

More info about this panel

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

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

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

KIT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KIT gene.

More info about this panel

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

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

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Gastric Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Gastric Cancer Comprehensive Panel that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC KIT SMAD4 MLH1 MSH2

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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

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Onco microarray for MDS/AML Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1

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Neurofibromatosis Panel Panel

Finland.

By Blueprint Genetics Neurofibromatosis Panel that also includes the following genes: SMARCB1 SPRED1 KIT KITLG NF1 NF2 PTPN11 RAF1

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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

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Waardenburg Syndrome Panel Panel

Finland.

By Blueprint Genetics Waardenburg Syndrome Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB KIT MITF PAX3

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Hereditary Gastrointestinal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

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cKIT Mutation by Sequencing Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc.

This panel specifically test the KIT gene.

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c-KIT Mutation Analysis (Exon 8 & Exon 17) Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc.

This panel specifically test the KIT gene.

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Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

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Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

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Focus::MPN™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MPN™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 CALR CBL SETBP1 ASXL1 CEBPA

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Focus::AML™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR

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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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Gastrointestinal stromal tumor Panel

Spain.

By Bioarray

This panel specifically test the KIT gene.

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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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Hematopoietic Disorders Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1

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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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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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C-Kit Panel

United States.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University

This panel specifically test the KIT 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 Thyroid Panel

United States.

By Circulogene Theranostics

This panel specifically test the KIT gene.

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Circulo Melanoma Panel

United States.

By Circulogene Theranostics

This panel specifically test the KIT gene.

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Circulo GIST Panel

United States.

By Circulogene Theranostics

This panel specifically test the KIT gene.

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Circulo Hematological Panel

United States.

By Circulogene Theranostics

This panel specifically test the KIT gene.

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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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PIEBALDISM Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KIT gene.

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MASTOCYTOSIS (Gleevec treatment) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KIT gene.

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LEUKEMIA, ACUTE MYELOID Panel

Spain.

By Laboratorio de Genetica Clinica SL LEUKEMIA, ACUTE MYELOID that also includes the following genes: FLT3 KIT

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SYSTEMIC MASTOCYTOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KIT gene.

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GASTROINTESTINAL STROMAL TUMOR (GIST) (Gleevec treatment) Panel

Spain.

By Laboratorio de Genetica Clinica SL GASTROINTESTINAL STROMAL TUMOR (GIST) (Gleevec treatment) that also includes the following genes: KIT PDGFRA

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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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Gastrointestinal Stromal Tumor , Sequencing Exons (13,17) KIT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KIT gene.

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Piebaldism , Deletions-Duplications (MLPA) KIT, SNAI2 Genes Panel

Spain.

By Reference Laboratory Genetics Piebaldism , Deletions-Duplications (MLPA) KIT, SNAI2 Genes that also includes the following genes: SNAI2 KIT

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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

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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

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Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: RUNX1 SH3GL1 TERC TERT TP53 WT1 NSD1 CBFB PICALM ASXL1

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Piebaldism , Panel Massive Sequencing (NGS) KIT, SNAI2 Genes Panel

Spain.

By Reference Laboratory Genetics Piebaldism , Panel Massive Sequencing (NGS) KIT, SNAI2 Genes that also includes the following genes: SNAI2 KIT

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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

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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

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

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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 Lung cancer: Extended gene sequencing Panel Panel

Canada.

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

More info about this panel

CEN4GEN 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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Melanoma: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Melanoma: Gene Sequencing Panel that also includes the following genes: BRCA1 TP53 WRN CDK4 CDKN2A KIT MGMT NRAS BAP1 PTEN

More info about this panel

Melanoma: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Melanoma: Gene Deletion/Duplication Panel that also includes the following genes: BRAF BRCA2 TP53 WRN CDK4 CDKN2A KIT NRAS BAP1 PTEN

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CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel that also includes the following genes: RUNX1 BRAF TP53 ASXL1 CEBPA TET2 DNMT3A FLT3 ALK IDH1

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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

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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

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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