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Diagnosis of hereditary cancer (panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/10/2018
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Last update: October 2018

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes (Panel description)

List of diseases tested (159)
17q11 microdeletion syndrome
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
APC-related attenuated familial adenomatous polyposis
Acromegaly
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
Bloom syndrome
Bullous diffuse cutaneous mastocytosis
COFS syndrome
Carcinoid syndrome
Carney complex
Carney-Stratakis syndrome
Chondrosarcoma
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
Desmoid tumor
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 isolated hyperparathyroidism
Familial isolated pituitary adenoma
Familial medullary thyroid carcinoma
Familial melanoma
Familial multinodular goiter
Familial multiple meningioma
Familial pancreatic carcinoma
Familial platelet disorder with associated myeloid malignancy
Familial prostate cancer
Fanconi anemia
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
Gliosarcoma
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
Insulinoma
Isolated bone marrow mastocytosis
Juvenile myelomonocytic leukemia
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Lynch syndrome
MUTYH-related attenuated familial adenomatous polyposis
Malignant Sertoli-Leydig cell tumor of the ovary
Malignant granulosa 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
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple osteochondromas
Myelodysplastic syndrome
Nephroblastoma
Neuroblastoma
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Nijmegen breakage syndrome
Nodular urticaria pigmentosa
Non-hereditary retinoblastoma
Null pituitary adenoma
Osteosarcoma
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
Prolactinoma
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
Sotos syndrome
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
Testicular seminomatous germ cell tumor
Tuberous sclerosis complex
Turcot syndrome with polyposis
Typical urticaria pigmentosa
Uveal melanoma
Von Hippel-Lindau disease
WAGR syndrome
Well-differentiated liposarcoma
Werner syndrome
Xeroderma pigmentosum
Xeroderma pigmentosum-Cockayne syndrome complex
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