Orphanet: Tumorgen Diagnostik durch das TruSight Cancer panel NGS Panel

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Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/07/2017

Last update: July 2017

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (161)

17q11 microdeletion syndrome

ALK-positive anaplastic large cell lymphoma

ALK-positive large B-cell lymphoma

APC-related attenuated familial adenomatous polyposis

Acute myeloblastic leukemia with maturation

Acute myeloid leukemia with CEBPA somatic mutations

Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Acute promyelocytic leukemia

Adrenocortical carcinoma

Adult hepatocellular carcinoma

Aggressive systemic mastocytosis

Ataxia-telangiectasia

Atypical teratoid rhabdoid tumor

B-cell chronic lymphocytic leukemia

BAP1-related tumor predisposition syndrome

Bannayan-Riley-Ruvalcaba syndrome

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to NSD1 mutation

Birt-Hogg-Dubé syndrome

Bullous diffuse cutaneous mastocytosis

Carcinoid syndrome

Carney-Stratakis syndrome

Choroid plexus carcinoma

Chromophobe renal cell carcinoma

Chronic myeloid leukemia

Clear cell papillary renal cell carcinoma

Clear cell renal carcinoma

Cockayne syndrome type 1

Constitutional mismatch repair deficiency syndrome

Costello syndrome

Cowden syndrome

Cutaneous mastocytoma

DICER1 tumor-predisposition syndrome

Deafness-lymphedema-leukemia syndrome

Dedifferentiated liposarcoma

Denys-Drash syndrome

Desmoplastic small round cell tumor

Desmoplastic/nodular medulloblastoma

Differentiated thyroid carcinoma

Essential thrombocythemia

Familial adenomatous polyposis due to 5q22.2 microdeletion

Familial atrial myxoma

Familial atypical multiple mole melanoma syndrome

Familial colorectal cancer Type X

Familial cylindromatosis

Familial isolated hyperparathyroidism

Familial isolated pituitary adenoma

Familial medullary thyroid carcinoma

Familial melanoma

Familial multinodular goiter

Familial multiple meningioma

Familial multiple trichoepithelioma

Familial pancreatic carcinoma

Familial platelet disorder with associated myeloid malignancy

Familial prostate cancer

Frasier syndrome

Full NF2-related schwannomatosis

Full schwannomatosis

Gardner syndrome

Gastric adenocarcinoma and proximal polyposis of the stomach

Gastrointestinal stromal tumor

Generalized juvenile polyposis/juvenile polyposis coli

Giant cell glioblastoma

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

Gorlin syndrome

Gynandroblastoma

Hereditary breast and/or ovarian cancer syndrome

Hereditary breast cancer

Hereditary clear cell renal cell carcinoma

Hereditary diffuse gastric cancer

Hereditary leiomyomatosis and renal cell cancer

Hereditary mixed polyposis syndrome

Hereditary papillary renal cell carcinoma

Hereditary pheochromocytoma-paraganglioma

Hereditary retinoblastoma

Hyperparathyroidism-jaw tumor syndrome

Inflammatory myofibroblastic tumor

Inherited acute myeloid leukemia

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Isolated bone marrow mastocytosis

Juvenile myelomonocytic leukemia

Juvenile polyposis of infancy

Lhermitte-Duclos disease

Li-Fraumeni syndrome

MUTYH-related attenuated familial adenomatous polyposis

Maligant granulosa cell tumor of the ovary

Malignant Sertoli-Leydig cell tumor of the ovary

Mantle cell lymphoma

Mast cell leukemia

Medulloblastoma with extensive nodularity

Melanoma and neural system tumor syndrome

Mosaic variegated aneuploidy syndrome

Muir-Torre syndrome

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2B

Multiple osteochondromas

Myelodysplastic syndrome

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Nijmegen breakage syndrome

Nodular urticaria pigmentosa

Non-hereditary retinoblastoma

Null pituitary adenoma

Palmoplantar keratoderma-esophageal carcinoma syndrome

Papillary renal cell carcinoma

Papilloma of choroid plexus

Parathyroid carcinoma

Pediatric hepatocellular carcinoma

Perlman syndrome

Peutz-Jeghers syndrome

Plaque-form urticaria pigmentosa

Precursor B-cell acute lymphoblastic leukemia

Precursor T-cell acute lymphoblastic leukemia

Primary peritoneal carcinoma

Proteus syndrome

Proteus-like syndrome

Pseudoxanthomatous diffuse cutaneous mastocytosis

Rhabdoid tumor predisposition syndrome

Rothmund-Thomson syndrome type 2

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Shwachman-Diamond syndrome

Silent pituitary adenoma

Silver-Russell syndrome due to a point mutation

Simpson-Golabi-Behmel syndrome

Small cell lung cancer

Smoldering systemic mastocytosis

Squamous cell carcinoma of salivary glands

Squamous cell carcinoma of the hypopharynx

Squamous cell carcinoma of the larynx

Squamous cell carcinoma of the lip

Squamous cell carcinoma of the nasal cavity and paranasal sinuses

Squamous cell carcinoma of the oral cavity

Squamous cell carcinoma of the oropharynx

Systemic mastocytosis with associated hematologic neoplasm

Telangiectasia macularis eruptiva perstans

Tuberous sclerosis complex

Turcot syndrome with polyposis

Typical urticaria pigmentosa

Von Hippel-Lindau disease

Well-differentiated liposarcoma

Werner syndrome

Xeroderma pigmentosum

Xeroderma pigmentosum-Cockayne syndrome complex

List of genes tested (including panels) (94)

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