94226-8LOINC 2.82
PKHD1 gene full mutation analysis in Blood or Tissue by Sequencing
PKHD1 gene Full Mut Anl Bld/T Seq
Definition
- Full gene sequence analysis to evaluate for mutations in the PKHD1 gene in patient's suspected of having autosomal recessive polycystic kidney disease (ARPKD). Testing may also be performed on at-risk individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified.
Component
- PKHD1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- ARPKD; Blood; Document; FCYT; Fibrocystin gene; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive); Random; sequencing of entire coding region; TIGM1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- ARPKD
- Blood
- Document
- FCYT
- Fibrocystin gene
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)
- Random
- sequencing of entire coding region
- TIGM1
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue