Nephrocystin 3

Mutations of the nephrocystin 3 gene cause autosomal recessive adolescent Nephronophthisis or Renal-hepatic-pancreatic dysplasia (RHPD).

Pathology

Gene mutations cause alteration of tubular basement membrane, degeneration and dilatation of tubules, which finally leads to generalized tubulo-interstitial sclerosis. Cysts predominantly appear at the cortico-medullary junction.

Genetests:

Clinic	Method	Carrier testing
	Turnaround	5 days
	Specimen type	genomic DNA

Clinic	Method	Massive parallel sequencing
	Turnaround	25 days
	Specimen type	genomic DNA

Clinic	Method	Genomic sequencing of the entire coding region
	Turnaround	30 days
	Specimen type	genomic DNA

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