Renal

RenalFor renal disorders we offer exome sequencing diagnostics, multiple gene diagnostics and single gene diagnostics.

Below you can find all the renal 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

 

A

ACTH-independent macronodular adrenal hyperplasia
Alport syndrome
Alstrom syndrome
Amelogenesis imperfecta
Arthrogryposis, renal dysfunction, and cholestasis
Arthrogryposis, renal dysfuntion and cholestasis 2
Atypical Hemolytic Uremic Syndrome (aHUS)

B

Bardet-Biedl syndrome
Bartter syndrome
BOR syndrome (Branchio-Oto-Renal dysplasia)

C

Combined oxidative phosphorylation deficiency
Cong. anomalies of kidney/urinary tract (CAKUT)
Congenital dominant spinal muscular atrophy
Corticosterone methyloxidase deficiency
Cysteinuria/Cystinuria

D

Dent's Disease (nephrolithiasis type 1)
Denys-Drash syndrome
Diabetes insipidus
Donnai-Barrow syndrome
Duane-radial ray syndrome

F

Familial hyperphosphatemic tumoral calcinosis
Familial Hypocalciuric Hypercalcemia
Familial juvenile hyperuricemic nephropathy
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Frasier syndrome
Fumarase deficiency

G

Gitelman syndrome
Glomerulopathy with fibronectin deposits
Glucocorticoid receptor deficiency
Glucocorticoid Remediabel Aldosteronism
Glutathione synthetase deficiency

H

Hypocalcemia
Hypomagnesemia, renal
Hypoparathyroidism, sensorineural deafness and renal dysplasia
Hypophosphatemic rickets

L

Leiomymatosis + kidney cancer
Liddle syndrome
Lowe oculocerebrorenal syndrome

M

Meckel syndrome
Medullary Cystic Kidney disease

N

Nail Patella syndrome
Neonatal hyperparathyroidism
Nephrogenic syndrome
Nephrolithiasis/osteoporosis, hypophosphatemic
Nephronophthisis
Nephropathic cystinosis
Nephrotic syndrome

O

Osteopetrose with renal tubular acidosis

P

Paraganglioma and pheochromocytoma, Hereditary
Pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 2

R

Renal cancer, hereditary
Renal cell carcinoma
Renal disorders (WES)
Renal glucosuria (GLYS1)
Renal tubular acidosis with deafness
Renal tubular acidosis, autosomal dominant
Renal Tubular Dysgenesis
Ritscher-Schinzel syndrome

S

Senior-Loken syndrome
SeSAME syndrome

V

Von Hippel-Lindau syndrome

W

Wilms tumor

X

Xanthinuria