List of diseases covered by Hypothyroidism and Thyroid Hormone Resistance NGS panel

List of diseases covered by
Hypothyroidism and Thyroid Hormone Resistance
NGS panel

Gene Condition
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
GNAS McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism;
Osseous heteroplasia, progressive
HESX1 Pituitary hormone deficiency, combined, 5
IYD Thyroid dyshormonogenesis 4
NKX2-1 Choreoathetosis, hypothyroidism,
and neonatal respiratory distress;
Chorea, hereditary benign; Thyroid cancer, nonmedullary, 1
NKX2-5 Hypothyroidism, congenital nongoitrous, 5;
Atrial septal defect 7, with or without AV conduction defects;
Conotruncal heart malformations, variable; Hypoplastic left heart syndrome 2;
Tetralogy of Fallot; Ventricular septal defect 3
PAX8 Hypothyroidism, congenital,
due to thyroid dysgenesis or hypoplasia
POU1F1 Pituitary hormone deficiency, combined, 1
PROP1 Pituitary hormone deficiency, combined, 2
SECISBP2 Thyroid hormone metabolism, abnormal
SLC5A5 Thyroid dyshormonogenesis 1
SLC16A2 Allan-Herndon-Dudley syndrome
SLC26A4 Pendred syndrome;
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
TG Thyroid dyshormonogenesis 3;
Autoimmune thyroid disease, susceptibility to, 3
THRA Hypothyroidism, congenital, nongoitrous, 6
THRB Thyroid hormone resistance;
Thyroid hormone resistance, autosomal recessive;
Thyroid hormone resistance, selective pituitary
TPO Thyroid dyshormonogenesis 2A
TRHR Thyrotropin-releasing hormone resistance, generalized
TSHB Hypothyroidism, congenital, nongoitrous 4
TSHR Hyperthyroidism, familial gestational;
Hyperthyroidism, nonautoimmune; Hypothyroidism, congenital, nongoitrous, 1

Hypothyroidism and Thyroid Hormone Resistance NGS panel

Hypothyroidism and Thyroid Hormone Resistance
NGS panel

Genes
(full
coding
region):
DUOX2, DUOXA2, GNAS, HESX1, IYD, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC5A5, SLC16A2, SLC26A4, TG, THRA, THRB, TPO, TRHR, TSHB, TSHR

List of diseases covered by the panel


Lab method: NGS panel NGS panel with CNV

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 of the GNAS gene

Genes: GNAS

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