SCA1 Mutation Analysis

기초정보

• 검사코드:
  CY535000
• 시행부서:
  외부(T.5948)
• 검체용기:
  EDTA
• 검체종류:
  Whole Blood
• 참고치 :
• 검사일 :
  월,목
• 소요시간 :
  5주
• 수가코드 :
  CY535A

검사소개

 

Table 1. Summary of Molecular Genetic Testing Used in SCA1

 

Gene	Test Method	Mutation Detected	Mutation Detection Frequency by Test Method 1
ATXN1	Targeted mutation analysis (PCR)	≤ ~100 CAG repeats	>99%
	Targeted mutation analysis (Southern blot, long-range PCR, CAG-primed PCR)	> ~100 CAG repeats	<1% 2

1. The ability of the test method used to detect a mutation that is present in the indicated gene

2. Typically observed in individuals with infantile or childhood onset in families with SCA1

자세히보기

• SCA 1

유의사항

(외부서식)유전자동의서, 월,화,수,목 5주

포함패널

• GBG00014: SCA(spinocerebellar Ataxia)profile

관련검사 및 추천검사