Spinocerebellar Degeneration Gene Analysis

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Spinocerebellar Degeneration Gene Analysis

Laboratory：Akiruno

○Spinocerebellar Degeneration Gene Analysis

CODE：00G94 1

TEST NAME SPECIMEN
REQUIREMENT
（ｍL） CONTAINER CAP COLOR STORE
TEMPERATURE
(STABILITY) TURNAROUND
TIME (DAY) METHODOLOGY REFERENCE RANGE
(UNIT)
Spinocerebellar Degeneration Gene Analysis
Blood (EDTA-2Na added)
2.0
PN2,PN5
（3 days）
19-23 Multiplex PCR-fragment analysis

TEST NAME	SPECIMEN REQUIREMENT （ｍL）	CONTAINER
Spinocerebellar Degeneration Gene Analysis	Blood (EDTA-2Na added) 2.0	PN2,PN5

CAP COLOR	STORE TEMPERATURE (STABILITY)	TURNAROUND TIME (DAY)
	（3 days）	19-23

METHODOLOGY	REFERENCE RANGE (UNIT)
Multiplex PCR-fragment analysis

COMMENT

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.

CONTAINER

PN2 Previous container symbol C

With EDTA-2Na (2mL vacuum blood sampling tube)

Contents: EDTA-2Na 3.0 mg
Storage method: Room temperature
Expiration period: 2 years from production

With EDTA-2Na (2 or 5mL vacuum blood sampling tube)

PN5 Previous container symbol C

With EDTA-2Na (5mL vacuum blood sampling tube)

Contents: EDTA-2Na 7.5 mg
Storage method: Room temperature
Expiration period: 2 years from production

supplementary information

疾患略号	遺伝子名	リピート塩基	判定基準 (リピート数)
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
SCA31	BEAN1	TGGAA	伸長挿入を認めず
PLEKHG4	c.-16C>T	－

Spinocerebellar Degeneration Criteria for Genetic Analysis

Disease abbreviation	Gene name	Repeat base	Judgment Criteria (Number of repeats)
Disease abbreviation	Gene name	Repeat base	Normal
SCA1	ATXN1	CAG	Under 35
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

Disease abbreviation	Gene name	Repeat base/variant	Judgment Criteria
Disease abbreviation	Gene name	Repeat base/variant	Normal
SCA31	BEAN1	TGGAA	No extensional insertion allowed
SCA31	PLEKHG4	c.-16C>T	-

TEST DIRECTORY