Thyroid disgenesis (38 genes)

Genetic test Export to PDF

Full name:	Thyroid disgenesis (38 genes)
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Carrier diagnosis, Mutation confirmation, Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region Mutation screening and sequence analysis of selected exons
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:	565493-565504
EQA:	2019 next generation sequencing (germline) GenQA (Genomics Quality Assessment) 2020 next generation sequencing (germline) GenQA (Genomics Quality Assessment) 2021 next generation sequencing (germline) GenQA (Genomics Quality Assessment) 2022 next generation sequencing (germline) GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):	2021-10-07 / 2026-06-14
Turnaround time (maximum):	6 months
Document(s):	Request form constitutional genetic analysis_V1(20210901).pdf1005.59 KB
Created:	28 Aug 2019 - 14:21
Changed:	09 Mar 2023 - 16:26
URL:	https://laboguide.uzbrussel.be/laboguide#Analyses:thyro%C3%AFd%20dysgenese&&5&2…

Related Diseases

• Athyreosis
• Autosomal dominant hypocalcemia
• Bartter syndrome with hypocalcemia
• Brain-lung-thyroid syndrome
• Cushing syndrome due to bilateral macronodular adrenocortical disease
• Familial gestational hyperthyroidism
• Familial hyperthyroidism due to mutations in TSH receptor
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial thyroid dyshormonogenesis
• Generalized resistance to thyroid hormone
• Genetic transient congenital hypothyroidism
• Hypothyroidism due to TSH receptor mutations
• Neonatal severe primary hyperparathyroidism
• Peripheral resistance to thyroid hormones
• Pituitary resistance to thyroid hormone
• Pseudohypoparathyroidism type 1A
• Pseudohypoparathyroidism type 1B
• Pseudohypoparathyroidism type 1C
• Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
• Thyroid ectopia
• Thyroid hypoplasia

Related Laboratories

• Centrum Medische Genetica - UZ Brussel VUB

Related Analytes

• AP2S1
• CASR
• CDCA8
• DUOX1
• DUOX2
• DUOXA2
• DYRK1A
• ELN
• FOXE1
• GAS1
• GLIS3
• GNA11
• GNAS
• GNAS-AS1
• IYD
• JAG1
• KAT6B
• KDM6A
• KMT2D
• NKX2-1
• NKX2-5
• NTN1
• PAX8
• SALL1
• SECISBP2
• SLC11A2
• SLC26A4
• SLC26A7
• SLC5A5
• STX16
• TBX1
• TG
• THPO
• THRA
• THRB
• TSHR
• TUBB1
• URB1

Related Gene Panels

• Thyroid disgenesis (38 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AP2S1	100.00	0	No comment
  CASR	100.00	0	No comment
  CDCA8	100.00	0	No comment
  DUOX1	100.00	0	No comment
  DUOX2	100.00	0	No comment
  DUOXA2	100.00	0	No comment
  DYRK1A	100.00	0	No comment
  ELN	100.00	0	No comment
  FOXE1	60.48	0	No comment
  GAS1	62.99	0	No comment
  GLIS3	100.00	0	No comment
  GNA11	99.51	0	No comment
  GNAS	98.96	0	No comment
  GNAS-AS1	100.00	0	No comment
  IYD	100.00	0	No comment
  JAG1	99.66	0	No comment
  KAT6B	100.00	0	No comment
  KDM6A	100.00	0	No comment
  KMT2D	100.00	0	No comment
  NKX2-1	92.46	0	No comment
  NKX2-5	100.00	0	No comment
  NTN1	95.84	0	No comment
  PAX8	100.00	0	No comment
  SALL1	100.00	0	No comment
  SECISBP2	98.68	0	No comment
  SLC11A2	100.00	0	No comment
  SLC26A4	99.99	0	No comment
  SLC26A7	100.00	0	No comment
  SLC5A5	100.00	0	No comment
  STX16	100.00	0	No comment
  TBX1	77.39	0	No comment
  TG	100.00	0	No comment
  THRA	100.00	0	No comment
  THRB	100.00	0	No comment
  THPO	99.84	0	No comment
  TSHR	100.00	0	No comment
  TUBB1	100.00	0	No comment
  URB1	99.99	0	No comment