Laboratory:Akiruno
- TOP
- Athena referral test
- test for neuromuscular disease
- MERRF mtDNA evaluation(Suspended beyond orders placed 12-22-2023)
Laboratory:Akiruno
○MERRF mtDNA evaluation(Suspended beyond orders placed 12-22-2023)
CODE:06132 8
-
TEST NAME
SPECIMEN
REQUIREMENT
(mL) CONTAINER CAP COLOR STORE
TEMPERATURE
(STABILITY) TURNAROUND
TIME (DAY) METHODOLOGY REFERENCE RANGE
(UNIT) -
MERRF mtDNA evaluation(Suspended beyond orders placed 12-22-2023)
Blood (EDTA-2Na added)
8.0
PN5(two)
30-48 PCR-RFLP
COMMENT
Blood: Avoid cryopreservation. Please see below for the bases to search. Blood materials can be accepted on Thursdays and Fridays. Please submit the specimen on the same day after collection. Materials other than those specified cannot be accepted. Please avoid duplicate requests with other items. This testing method can be more affected by contamination, so please be careful when collecting and handling the specimen.
Subjected to the Ethical guidelines (see below)
Precautions when requesting overseas outsourced testing
1. Strictly observe specimen storage. (Please be especially careful when storing samples at -70℃)
2. Please note that samples cannot be returned.
3. Please avoid duplicate request forms and specimens with domestic tests.
4. To make a request, please enter the request item code and request item name in the “Additional Item Entry Column” on our request form.
Collect blood into the container shown below, mix well, and store in the refrigerator.
Please avoid duplicate requests with other items.
This testing method can be more affected by contamination, so please be careful when collecting and handling the specimen.
CONTAINER
PN5 旧容器記号 C C3 4
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
supplementary information
ミトコンドリアDNA Evaluation探査塩基一覧
MELAS ミトコンドリアDNA Evaluation |
MERRF ミトコンドリアDNA Evaluation |
NARP ミトコンドリアDNA Evaluation |
|
---|---|---|---|
MELAS 3243 tRNA Leu A3243G |
* | - | - |
MELAS 3271 tRNA Leu T3271C |
* | - | - |
MELAS 3252 tRNA Leu A3252G |
* | - | - |
MELAS 3256 tRNA Leu C3256T |
* | - | - |
MELAS 3291 tRNA Leu T3291C |
* | - | - |
MELAS 13,513 ND5 G13513A |
* | - | - |
MERRF 8344 tRNA Lys A8344G |
- | * | - |
MERRF 8356 tRNA Lys T8356C |
- | * | - |
MERRF 8363 tRNA Lys G8363A |
- | * | - |
MERRF 8296 tRNA Lys A8296G |
- | * | - |
NARP 8993 ATPase6 T8993G |
- | - | * |
NARP 8993 ATPase6 T8993C |
- | - | * |
*:対象となる塩基