Endocrine

endocrineFor endocrine disorders we offer exome sequencing diagnostics, multiple gene diagnostics and single gene diagnostics.

Below you can find all the endocrine disorders we currently offer. Please click on a disorder for more information about the price and to place your order. You can also visit our ordering site directly.


Exome sequencing diagnostics:
 

Multiple gene diagnostics:
 


Single gene diagnostics:

  Updated 9th of march 2018

 

# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

#

46XY Sex reversal

A

ACTH-independent macronodular adrenal hyperplasia
adrenocorticotropic hormone deficiency (ACTH)
Adrenogenital syndrome (AGS)
Adrenoleukodystrophy
Aldosterone synthase deficiency
Alstrom syndrome
Antley-Bixler type syndrome

C

Central precocious puberty (pubertas praecox)
CHARGE syndrome
Corticosterone methyloxidase deficiency
Cortisol 11-beta-ketoreductase deficiency (AME1)

G

Glucocorticoid deficiecy
Glucocorticoid receptor deficiency
Glucocorticoid Remediabel Aldosteronism

H

Hartsfield syndrome
Hyperaldosteronism, familial
Hypertension, autosomal dominant
Hypogonadotropic hypogonadism with or without anosmia
Hypoparathyroidism, sensorineural deafness and renal dysplasia

K

Kallmann syndrome

L

Leydig cell hypoplasia
Liddle syndrome
Lowe oculocerebrorenal syndrome
Luteinizing hormone resistance

M

Multiple endocrine neoplasia type 1 (MEN1)
Multiple endocrine neoplasia type 2 (MEN2)

P

Paraganglioma and pheochromocytoma, Hereditary
Premature ovarian failure
Pseudohypoaldosteronism type 1

S

Short stature (WES)

T

Testotoxicosis, familial

U

Ulnar-mammary syndrome

V

Von Hippel-Lindau syndrome

Y

Y-chromosomal aberrations