Laboratory:Akiruno

Laboratory:Akiruno
CODE:00G94 1
Avoid cryopreservation.
Repeat expansions related to SCA1, SCA2, MJD/SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, DRPLA and expansion insertions related to SCA31 and thePLEKHG4 gene. c.-16 is being analyzed. Please avoid duplicate requests with other items. This testing method has a greater effect of contamination, so please be careful when handling the specimen.
Subject to ethical guidelines (see below)
Collect blood into the container shown below, mix well, and store in the refrigerator. Avoid duplicate requests for other items. This testing method is sensitive to the effects of contamination. The sample is larger, so please be careful when handling it when collecting the sample.
EDTA-2Na入り (真空採血量2mL)
内容:EDTA-2Na 3.0mg
貯蔵方法:室温
有効期間:製造から2年
EDTA-2Na入り (真空採血量5mL)
内容:EDTA-2Na 7.5mg
貯蔵方法:室温
有効期間:製造から2年
疾患略号 | 遺伝子名 | リピート塩基 | 判定基準 (リピート数) |
---|---|---|---|
正常 | |||
SCA1 | ATXN1 | CAG | 35以下 |
SCA2 | ATXN2 | CAG | 14~31 |
MJD/SCA3 | ATXN3 | CAG | 12~44 |
SCA6 | CACNA1A | CAG | 4~18 |
SCA7 | ATXN7 | CAG | 7~17 |
SCA8 | ATXN80S | CAG/CTG | 15~34 |
SCA12 | PPP2R2B | CAG | 9~18 |
SCA17 | TBP | CAA/CAG | 29~42 |
DRPLA | ATN1 | CAG | 6~35 |
疾患略号 | 遺伝子名 | リピート塩基/バリアント | 判定基準 |
---|---|---|---|
正常 | |||
SCA31 | BEAN1 | TGGAA | 伸長挿入を認めず |
PLEKHG4 | c.-16C>T | - |