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PKHD1
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Polycystic kidney and hepatic disease 1 gene

Scientific background:

Summary: The PKHD1 gene that encodes fibrocystin is responsible for autosomal recessive polycystic kidney and liver disease.

Methodology:

 

clinical
test
Method Genomic sequencing of the entire coding region
Turn-around time 30 working days
Effort large
Specimen DNA
Quality assessment Internal quality control only
  All known and new missense, nonsense and splice mutations can be detected.

 

clinical
test
Method Multiplex Ligation-Dependent Probe Amplification
Turn-around time 25 working days
Effort large
Specimen DNA
Quality assessment Internal quality control only
 

 

clinical
test
Method Carrier testing
Turn-around time 5 working days
Effort little
Specimen DNA
Quality assessment Internal quality control only
  The test is only specific about the mutation already known in this kindred.

Systematic link table: 

Autosomal recessive polycystic kidney and hepatic disease 1
PKHD1

Literature: 

Sharp AM et al. (2005) Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Onuchic LF et al. (2002) PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
Losekoot M et al. (2005) Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).