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Diagnosis of Hypothyroidism (gene panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 20/11/2017
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Last update: November 2017

Responsible of diagnostic test

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 (14)
Athyreosis
Bamforth-Lazarus syndrome
Brain-lung-thyroid syndrome
Familial thyroid dyshormonogenesis
Genetic transient congenital hypothyroidism
Hypothyroidism due to TSH receptor mutations
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
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) (27)
DUOX2
DUOXA2
FOXE1
HESX1
HOXA3
IGSF1
IRS4
IYD
LHX3
LHX4
NKX2-1
OTX2
PAX8
POU1F1
PROP1
SLC26A4
SLC5A5
SOX2
SOX3
TBL1X
TG
TPO
TPST2
TRH
TRHR
TSHB
TSHR

Additional information

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.