List of diseases covered by Combined Pituitary Hormone Deficiency NGS panel

Published 08/08/2018

List of diseases covered by
Combined Pituitary Hormone Deficiency NGS panel

Gene Condition
HESX1 Pituitary hormone deficiency, combined, 5
LHX3 Pituitary hormone deficiency, combined, 3
LHX4 Pituitary hormone deficiency, combined, 4
OTX2 Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction
POU1F1 Pituitary hormone deficiency, combined, 1
PROP1 Pituitary hormone deficiency, combined, 2

Combined Pituitary Hormone Deficiency

Published 23/08/2017

Combined Pituitary Hormone Deficiency
NGS panel

Genes
(full coding
region):		 HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1

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: GH1, GHRHR, HESX1, LHX3, LHX4, POU1F1, PROP1
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