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Diagnosis of rare renal diseases (NGS screening panel, 268 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 19/05/2020
  • MVZ Humangenetik Ulm - Praxis und Labor Ulm
  • MVZ Humangenetik Ulm GbR
  • Karlstr. 33
  • 89073 ULM
  • GERMANY
  • Director of laboratory : Tanja TROSCH
  • More information
  • Phone : 49 (0)731 850773 0
  • Additional Phone : -
  • Fax : 49 (0)731 850773 33
  • Website
  • Contact
Last update: May 2020

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes (Panel description)

List of diseases tested (127)
2p21 microdeletion syndrome
AFib amyloidosis
ALys amyloidosis
Action myoclonus-renal failure syndrome
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Apparent mineralocorticoid excess
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Atypical hemolytic uremic syndrome with complement gene abnormality
Atypical hypotonia-cystinuria syndrome
Autosomal dominant Alport syndrome
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 hypophosphatemic rickets
Autosomal recessive infantile hypercalcemia
Autosomal recessive polycystic kidney disease
BNAR syndrome
BOR syndrome
Bardet-Biedl syndrome
Bartter syndrome type 1
Bartter syndrome type 2
Bartter syndrome type 3
Bartter syndrome type 4
Behçet disease
Bilateral multicystic dysplastic kidney
Brachydactyly-arterial hypertension syndrome
C3 glomerulonephritis
Clear cell renal carcinoma
Congenital nephrotic syndrome, Finnish type
Cranioectodermal dysplasia
Cystinuria type A
Cystinuria type B
Dense deposit disease
Dent disease type 1
Dent disease type 2
Denys-Drash syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial Mediterranean fever
Familial hyperaldosteronism type I
Familial hyperaldosteronism type III
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial vesicoureteral reflux
Fanconi anemia
Fanconi-Bickel syndrome
Fibronectin glomerulopathy
Fraser syndrome
Frasier syndrome
Galloway-Mowat syndrome
Generalized pseudohypoaldosteronism type 1
Genetic steroid-resistant nephrotic syndrome
Gitelman syndrome
HANAC syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Hajdu-Cheney syndrome
Hemolytic uremic syndrome with DGKE deficiency
Hereditary renal hypouricemia
Hyperparathyroidism-jaw tumor syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Hypotonia-cystinuria syndrome
Imerslund-Gräsbeck syndrome
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Infantile nephronophthisis
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Jeune syndrome
Joubert syndrome with hepatic defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juvenile nephronophthisis
Karyomegalic interstitial nephritis
Late-onset nephronophthisis
Leigh syndrome
Liddle syndrome
MUC1-related autosomal dominant tubulointerstitial kidney disease
MYH9-related disease
McKusick-Kaufman syndrome
Meckel syndrome
Muckle-Wells syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
NPHP3-related Meckel-like syndrome
Nail-patella syndrome
Nail-patella-like renal disease
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Nephroblastoma
Nephrogenic diabetes insipidus
Nephrogenic syndrome of inappropriate antidiuresis
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Ochoa syndrome
Oculocerebrorenal syndrome of Lowe
Orofaciodigital syndrome type 1
Pierson syndrome
Primary Fanconi renotubular syndrome
Primary hyperoxaluria type 2
Primary hyperoxaluria type 3
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Prune belly syndrome
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
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-hepatic-pancreatic dysplasia
Saldino-Mainzer syndrome
Schimke immuno-osseous dysplasia
Senior-Boichis syndrome
Senior-Loken syndrome
Townes-Brocks syndrome
UMOD-related autosomal dominant tubulointerstitial kidney disease
Unilateral multicystic dysplastic kidney
Ventriculomegaly-cystic kidney disease
WAGR syndrome
X-linked Alport syndrome
X-linked Alport syndrome-diffuse leiomyomatosis
X-linked hypophosphatemia

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.