List of diseases covered by Thyroid Dyshormonogenesis NGS panel

Published 08/08/2018

List of diseases covered by
Thyroid Dyshormonogenesis NGS panel

Gene Condition
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
IYD Thyroid dyshormonogenesis 4
SLC5A5 Thyroid dyshormonogenesis 1
TG Thyroid dyshormonogenesis 3;
Autoimmune thyroid disease, susceptibility to, 3
TPO Thyroid dyshormonogenesis 2A

Thyroid Dyshormonogenesis NGS panel

Published 23/08/2017

Thyroid Dyshormonogenesis
NGS panel

Genes
(full coding
region):		 DUOX2, DUOXA2, IYD, SLC5A5, TG, TPO

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: FOXE1, NKX2-1, PAX8, TPO, TSHR
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form