x

Share
Share

Search for a diagnostic test

Diagnosis of inherited cancer-predisposing syndrome (panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 18/12/2018

Servicio de Laboratorio
Servicio de Medicina Genética y Molecular
Hospital Sant Joan de Déu Barcelona
Paseo de Sant Joan de Déu, 2
08950 ESPLUGUES DE LLOBREGAT
SPAIN
Director of laboratory : Dr Bonaventura RUIZ MONTASELL
More information

Phone : 34 93 253 21 00
Additional Phone : -
Fax : -
Website

Last update: December 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (196)

17q11 microdeletion syndrome

17q11.2 microduplication syndrome

46,XY complete gonadal dysgenesis

46,XY partial gonadal dysgenesis

5q35 microduplication syndrome

AKT2-related familial partial lipodystrophy

APC-related attenuated familial adenomatous polyposis

AXIN2-related attenuated familial adenomatous polyposis

Adrenocortical carcinoma

Alagille syndrome due to a NOTCH2 point mutation

Amyotrophic lateral sclerosis

Ataxia-telangiectasia

Atypical teratoid rhabdoid tumor

Autoimmune lymphoproliferative syndrome

BAP1-related tumor predisposition syndrome

Baller-Gerold syndrome

Bannayan-Riley-Ruvalcaba syndrome

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to NSD1 mutation

Behavioral variant of frontotemporal dementia

Behçet disease

Birt-Hogg-Dubé syndrome

Blomstrand lethal chondrodysplasia

Branchiootic syndrome

Bullous diffuse cutaneous mastocytosis

Carcinoid syndrome

Cardiofaciocutaneous syndrome

Carney-Stratakis syndrome

Cenani-Lenz syndrome

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

Chronic myeloid leukemia

Cockayne syndrome type 1

Cockayne syndrome type 2

Cockayne syndrome type 3

Coffin-Siris syndrome

Common variable immunodeficiency

Congenital central hypoventilation syndrome

Constitutional mismatch repair deficiency syndrome

Costello syndrome

Cowden syndrome

Craniopharyngioma

Cutaneous mastocytoma

Deafness-lymphedema-leukemia syndrome

Denys-Drash syndrome

Desmoplastic small round cell tumor

Diamond-Blackfan anemia

Dyskeratosis congenita

Encephalocraniocutaneous lipomatosis

Essential thrombocythemia

Familial adenomatous polyposis due to 5q22.2 microdeletion

Familial atrial myxoma

Familial atypical multiple mole melanoma syndrome

Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

Familial cylindromatosis

Familial gestational hyperthyroidism

Familial hyperthyroidism due to mutations in TSH receptor

Familial isolated dilated cardiomyopathy

Familial isolated hyperparathyroidism

Familial medullary thyroid carcinoma

Familial melanoma

Familial multinodular goiter

Familial multiple trichoepithelioma

Familial pancreatic carcinoma

Familial platelet disorder with associated myeloid malignancy

Familial spontaneous pneumothorax

Familial thoracic aortic aneurysm and aortic dissection

Frasier syndrome

Full NF2-related schwannomatosis

Full schwannomatosis

Gardner syndrome

Gastrointestinal stromal tumor

Generalized juvenile polyposis/juvenile polyposis coli

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

Gorlin syndrome

Haddad syndrome

Hajdu-Cheney syndrome

Hemihyperplasia-multiple lipomatosis syndrome

Hereditary breast and/or ovarian cancer syndrome

Hereditary chronic pancreatitis

Hereditary clear cell renal cell carcinoma

Hereditary gingival fibromatosis

Hereditary hemorrhagic telangiectasia

Hereditary leiomyomatosis and renal cell cancer

Hereditary papillary renal cell carcinoma

Hereditary retinoblastoma

Hereditary sensory and autonomic neuropathy type 4

Hirschsprung disease

Hirschsprung disease-ganglioneuroblastoma syndrome

Hoyeraal-Hreidarsson syndrome

Hyperinsulinism due to HNF1A deficiency

Hyperparathyroidism-jaw tumor syndrome

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Hypothyroidism due to TSH receptor mutations

Idiopathic pulmonary fibrosis

Infantile myofibromatosis

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

Isolated primary pigmented nodular adrenocortical disease

Juvenile polyposis of infancy

Large congenital melanocytic nevus

Lateral meningocele syndrome

Lhermitte-Duclos disease

Li-Fraumeni syndrome

Linear nevus sebaceus syndrome

Loeys-Dietz syndrome

Lymphangioleiomyomatosis

MITF-related melanoma and renal cell carcinoma predisposition syndrome

Mantle cell lymphoma

Meacham syndrome

Megalencephaly-capillary malformation-polymicrogyria syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Melanoma and neural system tumor syndrome

Monosomy 9q22.3

Mosaic variegated aneuploidy syndrome

Mulibrey nanism

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2B

Multiple endocrine neoplasia type 4

Multiple osteochondromas

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Neurofibromatosis-Noonan syndrome

Nijmegen breakage syndrome

Nijmegen breakage syndrome-like disorder

Noonan syndrome

Noonan syndrome with multiple lentigines

Noonan syndrome-like disorder with loose anagen hair

Oligodontia-cancer predisposition syndrome

Otofaciocervical syndrome

Papilloma of choroid plexus

Parathyroid carcinoma

Parkes Weber syndrome

Pediatric hepatocellular carcinoma

Perlman syndrome

Peutz-Jeghers syndrome

Potocki-Shaffer syndrome

Primary peritoneal carcinoma

Proteus syndrome

Proteus-like syndrome

Pseudoxanthomatous diffuse cutaneous mastocytosis

RAS-associated autoimmune leukoproliferative disease

Renal agenesis, bilateral

Rothmund-Thomson syndrome type 2

Seckel syndrome

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Severe combined immunodeficiency due to adenosine deaminase deficiency

Shwachman-Diamond syndrome

Silver-Russell syndrome due to a point mutation

Simpson-Golabi-Behmel syndrome

Squamous cell carcinoma of the esophagus

Systemic mastocytosis with associated hematologic neoplasm

Thyroid hypoplasia

Toriello-Lacassie-Droste syndrome

Trichorhinophalangeal syndrome type 2

Tuberous sclerosis complex

Turcot syndrome with polyposis

VACTERL with hydrocephalus

Vogt-Koyanagi-Harada disease

Von Hippel-Lindau disease

Waardenburg syndrome type 2

Weaver syndrome

Well-differentiated liposarcoma

Werner syndrome

Wiskott-Aldrich syndrome

X-linked lymphoproliferative disease

X-linked severe congenital neutropenia

Xeroderma pigmentosum

Xeroderma pigmentosum variant

Xeroderma pigmentosum-Cockayne syndrome complex

List of genes tested (including panels) (145)

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.