81884-9LOINC 2.82
NIPA1 and REEP1 gene full mutation analysis in Blood or Tissue by Sequencing
NIPA1+REEP1 Full Mut Anl Bld/T Seq
Definition
- Mutation analysis of the REEP1 (SPG31) and NIPA1 genes is performed in patients with an autosomal dominant inheritance pattern of a hereditary spastic paraplegia (HSP), especially if no mutation is found in the SPAST (SPG4) or ALT1 (SPG3A) genes. The submitter's lab performs mutation analysis of exons 1-7 and flanking intronic regions of the REEP1 gene and exons 2-5 and flanking intronic regions of the NIPA1 gene by sequencing methods.
Component
- NIPA1 gene & REEP1 gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; C2orf23; Document; Finding; Findings; FSP3; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HMN5B; HTS; Inherited; MGC35570; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; NIPA1+REEP1; non imprinted in Prader-Willi/Angelman syndrome 1; Non-imprinted in Prader-Willi/Angelman syndrome 1; Point in time; Random; receptor accessory protein 1; sequencing of entire coding region; SPG31; SPG6; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; Yip2a
Index terms
- Blood
- C2orf23
- Document
- Finding
- Findings
- FSP3
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HMN5B
- HTS
- Inherited
- MGC35570
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- NIPA1 gene & REEP1 gene full mutation analysis
- NIPA1+REEP1
- non imprinted in Prader-Willi/Angelman syndrome 1
- Non-imprinted in Prader-Willi/Angelman syndrome 1
- Point in time
- Random
- receptor accessory protein 1
- sequencing of entire coding region
- SPG31
- SPG6
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue
- Yip2a