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Diagnosis of thyroid diseases (Panel)

  • Service de Biochimie-Hormonologie
  • Biochimie-Hormonologie
  • CHU Paris - Hôpital Robert Debré
  • 48 boulevard Sérurier
  • 75019 PARIS
  • FRANCE
  • Director of laboratory : Pr Nicolas DE ROUX
  • More information
  • Phone : 33 (0)1 40 03 47 07
  • Additional Phone : 33 (0)1 40 03 53 81
  • Fax : 33 (0)1 40 03 47 90
  • Contact
Last update: June 2022

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (17)
Athyreosis
Bamforth-Lazarus syndrome
Brain-lung-thyroid syndrome
Differentiated thyroid carcinoma
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Familial papillary or follicular thyroid carcinoma
Familial thyroid dyshormonogenesis
Genetic transient congenital hypothyroidism
Hypothyroidism due to TSH receptor mutations
Isolated thyroid-stimulating hormone deficiency
Isolated thyrotropin-releasing hormone deficiency
Pendred syndrome
Resistance to thyrotropin-releasing hormone syndrome
Thyroid ectopia
Thyroid hypoplasia
X-linked central congenital hypothyroidism with late-onset testicular enlargement
List of genes tested (including panels) (17)
DUOX2
DUOXA2
FOXE1
HES1
IGSF1
IYD
NKX2-1
NKX2-5
PAX8
SLC26A4
SLC5A5
TG
TPO
TRH
TRHR
TSHB
TSHR
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.