Orphanet: Diagnóstico del síndrome de Noonan y trastornos relacionados panel de genes
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Diagnosis of Noonan syndrome and Noonan-related disorders (panel)

  • Unidad de Genómica Clínica
  • Servicio de Genética
  • Hospital Germans Trias I Pujol
  • Carretera de Canyet, s/n
  • 08916 BADALONA
  • SPAIN
  • Director of laboratory : Dr Ignacio BLANCO
  • More information
  • Phone : 34 93 033 05 16
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: December 2020

Responsible of diagnostic test

Purpose(s)

Pre-implantation diagnosis
Post-natal diagnosis
Somatic genetics

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (8)
Cardiofaciocutaneous syndrome
Costello syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with loose anagen hair
List of genes tested (including panels) (20)
A2ML1
BRAF
CBL
HRAS
KRAS
LZTR1
MAP2K1
MAP2K2
NF1
NRAS
PTPN11
RAF1
RASA1
RASA2
RIT1
RRAS
SHOC2
SOS1
SOS2
SPRED1
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.