Orphanet: Diagnostik von hereditï¿½ren Nierenerkrankungen NGS Screening Panel: 411 Gene

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Diagnosis of hereditary kidney disease (NGS screening panel: 411 Gene)

Institut für Humangenetik
Institut für Humangenetik am Universitätsklinikum Köln
Kerpener Str. 34
50931 KÖLN
GERMANY
Director of laboratory : Pr Brunhilde WIRTH
More information

Phone : 49 (0)221 478 86464
Additional Phone : -
Fax : 49 (0)221 478 86465
Website

Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Sanger sequencing

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (177)

17q11 microdeletion syndrome

2p21 microdeletion syndrome

AApoAI amyloidosis

AFib amyloidosis

ALys amyloidosis

Acro-renal-ocular syndrome

Acroosteolysis dominant type

Action myoclonus-renal failure syndrome

Acute intermittent porphyria

Adenine phosphoribosyltransferase deficiency

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alström syndrome

Antenatal Bartter syndrome

Apparent mineralocorticoid excess

Arthrogryposis-renal dysfunction-cholestasis syndrome

Atypical hemolytic uremic syndrome with complement gene abnormality

Atypical hypotonia-cystinuria syndrome

Autosomal dominant Alport syndrome

Autosomal dominant distal renal tubular acidosis

Autosomal dominant hypophosphatemic rickets

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Autosomal dominant primary hypomagnesemia with hypocalciuria

Autosomal recessive Alport syndrome

Autosomal recessive distal renal tubular acidosis

Autosomal recessive hypophosphatemic rickets

Autosomal recessive infantile hypercalcemia

Autosomal recessive polycystic kidney disease

Autosomal recessive proximal renal tubular acidosis

Bardet-Biedl syndrome

Bilateral multicystic dysplastic kidney

Brachydactyly-arterial hypertension syndrome

C3 glomerulonephritis

Classic Bartter syndrome

Classic galactosemia

Congenital nephrotic syndrome, Finnish type

Congenital thrombotic thrombocytopenic purpura

Cranioectodermal dysplasia

Cystinuria type A

Cystinuria type B

Dense deposit disease

Dent disease type 1

Dent disease type 2

Denys-Drash syndrome

Distal renal tubular acidosis with anemia

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Ellis Van Creveld syndrome

Familial LCAT deficiency

Familial hyperaldosteronism type I

Familial porphyria cutanea tarda

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

Familial primary hypomagnesemia with normocalciuria and normocalcemia

Familial renal glucosuria

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Fanconi-Bickel syndrome

Fibronectin glomerulopathy

Fish-eye disease

Fraser syndrome

Frasier syndrome

Galloway-Mowat syndrome

Generalized pseudohypoaldosteronism type 1

Genetic steroid-resistant nephrotic syndrome

Gitelman syndrome

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Hartnup disease

Hemolytic uremic syndrome with DGKE deficiency

Hepatoerythropoietic porphyria

Hereditary hypophosphatemic rickets with hypercalciuria

Hereditary pheochromocytoma-paraganglioma

Hereditary renal hypouricemia

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypotonia-cystinuria syndrome

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Idiopathic steroid-sensitive nephrotic syndrome

Imerslund-Gräsbeck syndrome

Immunoglobulin-mediated membranoproliferative glomerulonephritis

Infantile Bartter syndrome with sensorineural deafness

Infantile nephronophthisis

Infantile nephropathic cystinosis

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Joubert syndrome with oculorenal defect

Joubert syndrome with renal defect

Junctional epidermolysis bullosa with respiratory and renal involvement

Juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile nephronophthisis

Juvenile nephropathic cystinosis

Karyomegalic interstitial nephritis

Late-onset nephronophthisis

Lesch-Nyhan syndrome

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Liddle syndrome

MUC1-related autosomal dominant tubulointerstitial kidney disease

MYH9-related disease

Meckel syndrome

Mild phosphoribosylpyrophosphate synthetase superactivity

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Multicentric carpo-tarsal osteolysis with or without nephropathy

NPHP3-related Meckel-like syndrome

Nail-patella syndrome

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

Nephrogenic diabetes insipidus

Nephrogenic syndrome of inappropriate antidiuresis

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Noonan syndrome

Oculocerebrorenal syndrome of Lowe

Orofaciodigital syndrome type 1

Osteopetrosis with renal tubular acidosis

Pierson syndrome

Porphyria due to ALA dehydratase deficiency

Primary Fanconi renotubular syndrome

Primary hyperoxaluria type 1

Primary hyperoxaluria type 2

Primary hyperoxaluria type 3

Primary hypomagnesemia with secondary hypocalcemia

Prune belly syndrome

Pseudohypoaldosteronism type 2B

Pseudohypoaldosteronism type 2C

Pseudohypoaldosteronism type 2D

Pseudohypoaldosteronism type 2E

Pseudohypoparathyroidism type 1A

Pseudohypoparathyroidism type 1B

Pseudohypoparathyroidism type 1C

Pseudopseudohypoparathyroidism

Pseudoxanthoma elasticum

REN-related autosomal dominant tubulointerstitial kidney disease

Renal agenesis, bilateral

Renal agenesis, unilateral

Renal coloboma syndrome

Renal hypoplasia, bilateral

Renal pseudohypoaldosteronism type 1

Renal tubular dysgenesis of genetic origin

Renal tubulopathy-encephalopathy-liver failure syndrome

Renal-hepatic-pancreatic dysplasia

Saldino-Mainzer syndrome

Schimke immuno-osseous dysplasia

Senior-Boichis syndrome

Senior-Loken syndrome

Severe phosphoribosylpyrophosphate synthetase superactivity

Smith-Lemli-Opitz syndrome

Townes-Brocks syndrome

Tuberous sclerosis complex

Tyrosinemia type 1

UMOD-related autosomal dominant tubulointerstitial kidney disease

Unilateral multicystic dysplastic kidney

Ventriculomegaly-cystic kidney disease

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Von Hippel-Lindau disease

X-linked Alport syndrome

X-linked Alport syndrome-diffuse leiomyomatosis

X-linked hypophosphatemia

Xanthinuria type I

Xanthinuria type II

Zellweger syndrome

List of genes tested (including panels) (410)

Additional information

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