Molecular diagnosis

The specific hormonal disorders for which molecular diagnosis is offered are shown in the table below. Each listed gene is linked to the appropriate service profile, where you can find further details on reasons for referral and submission of samples.

The screening of genes responsible for IGHD and MPHD is offered as part of the GeNeSIS study sponsored by Eli Lilly and Company. Please contact your local Lilly representative for details. In special cases we will provide this service at no charge as part of our research program. Please contact us directly.

Note that a full clinical description is necessary for effective mutational screening. As there is rapid progress in the research of new genes involved in pituitary development, full clinical description is also essential for finding new candidate genes potentially responsible for your patient’s condition. To provide this information, please use the Patient Information and Referral Form accessed from the table below.

Senders from Germany have to fill out an informed written consent.
This is necessary to comply with the German law on human genetic investigations which was instituted in February 2010 (Please see http://www.bvdh.de/newsdownload/40/Gesetzblatt_GenDG_BGBL04082009.pdf for details).

Hormonal Disorder	Genes screened
Isolated Growth Hormone Deficiency (IGHD) Patient Information and Referral Form IGHD/MPHD	GH1
	GHRHR

Multiple Pituitary Hormonal Deficiency (MPHD) Patient Information and Referral Form IGHD/MPHD	HESX1
	LHX3 (P-LIM; Rtx)
	LHX4
	POU1F1 (PIT1; GHF1)
	PROP1
	SHH

Growth Hormone Insensitivity (Laron-Syndrome) Patient Information and Referral Form GHR Responsiveness to exogenous GH	GHR d3-GHR

Congenital Adrenal Hyperplasia (CAH) Patient Information and Referral Form CAH	CYP21


Autoimmune Polyglandular Syndrome Type II Patient Information and Referral Form APS2	AIRE


IGF1-Receptor Patient Information and Referral Form IGF1R	IGF1R


Neurohypophyseal Diabetes Insipidus Patient Information and Referral Form DI	AVP


Nephrogenic Diabetes Insipidus	AQP2
Patient Information and Referral Form DI	V2R

TSH deficient hypothyroidism	TSHß
Patient Information and Referral Form TSHß