MERRF mtDNA evaluation（Suspended beyond orders placed 12-22-2023）

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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）
muscle tissue
ARR (-70℃)
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.

CONTAINER

ARR 旧容器記号 r A

滅菌ポリスピッツ

貯蔵方法：室温

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

TEST DIRECTORY