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Laboratory：Akiruno

○genetic tests

TEST NAME	SPECIMEN REQUIREMENT （ｍL）	CONTAINER	CAP COLOR	STORE TEMPERATURE (STABILITY)	TURNAROUND TIME (DAY)	METHODOLOGY	REFERENCE RANGE (UNIT)
Microsatellite instability (MSI) testing (Lynch syndrome)	Unstained specimen slide 5 to 10 sheets thickness 5μm	Z10			8-14	Multiplex PCR-fragment analysis After amplifying multiple target genes, the PCR amplification products are subjected to capillary electrophoresis using a sequencer. A method that separates DNA according to its size and analyzes and identifies peaks according to the amount of amplification using the QMVR width set by dedicated software.
RET gene analysis (medullary thyroid carcinoma)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
Single site analysis for RET gene	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
SNRPN gene analysis (methylation PCR) (Prader-Willi syndrome Angelman syndrome)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	Methylation PCR Methylation PCR Using the fact that unmethylated cytosine is converted to uracil by bisulfite treatment, methylation of the target region can be detected based on the difference in base sequence between methylated cytosine and unmethylated cytosine after bisulfite treatment. How to confirm by PCR
PRRT2 gene analysis (paroxysmal kinesigenic dyskinesia)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
TTR gene analysis (familial amyloidosis)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
MECP2 gene analysis (Rett syndrome)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
ZEB2 gene analysis (Mowat-Wilson syndrome)	Blood (EDTA-2Na added) 5.0	PN5		（3 days）	30-90	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
PrismGuideIRD Panel System	Blood (EDTA-2Na added) 2.0	PN2,PN5		（7 days）	47-65	Next Generation Sequencing (NGS) A method that uses a next-generation sequencer to simultaneously determine the base sequences of a huge number of DNA fragments.
TACSTD2 gene analysis (corneal dystrophy)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
Dystrophin gene analysis (Duchenne muscular dystrophy and Becker muscular dystrophy)	Blood (EDTA-2Na added) 2.0	PN2,PN5			12-23	MLPA MLPA (Multiplex ligation-dependent probe amplification) After hybridizing a specific probe fused with a common PCR primer sequence to the labeled region, PCR is performed, and quantitative changes in the amplified products are investigated using a relatively large genome. Methods for detecting deletions or duplications.	No gene deletions or duplications observed
Fukutin gene DNA insertion	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	PCR PCR (Polymerase chain reaction) Uses the fact that DNA dissociates from double strands to single strands when heated and returns to double strands when cooled, and binds the desired primer using single stranded DNA as a template. A method in which the target DNA region is exponentially amplified by repeatedly performing DNA synthesis using the transcription reaction of DNA polymerase.	Not allowed to insert
Spinocerebellar Degeneration Gene Analysis	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	19-23	Multiplex PCR-fragment analysis
Congenital QT prolongation syndrome gene analysis	Blood (EDTA-2Na added) 5.0	PN5		（10 days）	35-80	Next Generation Sequencing (NGS) A method that uses a next-generation sequencer to simultaneously determine the base sequences of a huge number of DNA fragments.
MEFV gene analysis (Familial Mediterranean Fever)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	28-35	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
SOD1 gene analysis (amyotrophic lateral sclerosis)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
HTT gene CAG repeat sequence analysis (Huntington's disease)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	PCR PCR (Polymerase chain reaction) Uses the fact that DNA dissociates from double strands to single strands when heated and returns to double strands when cooled, and binds the desired primer using single stranded DNA as a template. A method in which the target DNA region is exponentially amplified by repeatedly performing DNA synthesis using the transcription reaction of DNA polymerase.
Androgen receptor gene CAG repeat sequence analysis (Spinal bulbar muscular atrophy)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	PCR PCR (Polymerase chain reaction) Uses the fact that DNA dissociates from double strands to single strands when heated and returns to double strands when cooled, and binds the desired primer using single stranded DNA as a template. A method in which the target DNA region is exponentially amplified by repeatedly performing DNA synthesis using the transcription reaction of DNA polymerase.
Y chromosome microdeletion (AZF deletion)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	7-11	PCR-rSSO method
Genetic test (Intellectual disability and epilepsy group)〔WES〕	Blood (EDTA-2Na added) 7.0	PN7		（3 days）	Please contact us in advance.	Next Generation Sequencing (NGS) A method that uses a next-generation sequencer to simultaneously determine the base sequences of a huge number of DNA fragments.
Y-chromosome microdeletion (AZF deletion)（Suspended beyond orders placed 07-29-2022）	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	3-9	PCR-rSSO method
Mitochondrial DNA 11778 salt base point mutation (Reber's disease)（Suspended beyond orders placed 03-29-2018）	Blood (EDTA-2Na added) 2.0	PN2,PN5			12-16	gFCS gFCS(Gene analysis by Fluorescence Correlation Spectroscopy) A gene analysis method in which PCR is performed using primers labeled with fluorescent substances, and differences in the size of primer molecules are measured by a single molecule fluorescence analysis system as differences in time variation of fluorescence intensity (fluorescence fluctuation) and analyzed using fluorescence correlation spectroscopy (FCS).	No mutations detected
Mitochondrial DNA 3243 salt base point mutation（Suspended beyond orders placed 03-30-2018）	Blood (EDTA-2Na added) 2.0	PN2,PN5			12-16	gFCS gFCS(Gene analysis by Fluorescence Correlation Spectroscopy) A gene analysis method in which PCR is performed using primers labeled with fluorescent substances, and differences in the size of primer molecules are measured by a single molecule fluorescence analysis system as differences in time variation of fluorescence intensity (fluorescence fluctuation) and analyzed using fluorescence correlation spectroscopy (FCS).	No mutations detected

TEST NAME	SPECIMEN REQUIREMENT （ｍL）	CONTAINER	CAP COLOR	STORE TEMPERATURE (STABILITY)	TURNAROUND TIME (DAY)	METHODOLOGY	REFERENCE RANGE (UNIT)
Microsatellite instability (MSI) testing (Lynch syndrome)	Unstained specimen slide 5 to 10 sheets thickness 5μm	Z10			8-14	Multiplex PCR-fragment analysis After amplifying multiple target genes, the PCR amplification products are subjected to capillary electrophoresis using a sequencer. A method that separates DNA according to its size and analyzes and identifies peaks according to the amount of amplification using the QMVR width set by dedicated software.
RET gene analysis (medullary thyroid carcinoma)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
Single site analysis for RET gene	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
SNRPN gene analysis (methylation PCR) (Prader-Willi syndrome Angelman syndrome)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	Methylation PCR Methylation PCR Using the fact that unmethylated cytosine is converted to uracil by bisulfite treatment, methylation of the target region can be detected based on the difference in base sequence between methylated cytosine and unmethylated cytosine after bisulfite treatment. How to confirm by PCR
PRRT2 gene analysis (paroxysmal kinesigenic dyskinesia)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
TTR gene analysis (familial amyloidosis)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
MECP2 gene analysis (Rett syndrome)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
ZEB2 gene analysis (Mowat-Wilson syndrome)	Blood (EDTA-2Na added) 5.0	PN5		（3 days）	30-90	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
PrismGuideIRD Panel System	Blood (EDTA-2Na added) 2.0	PN2,PN5		（7 days）	47-65	Next Generation Sequencing (NGS) A method that uses a next-generation sequencer to simultaneously determine the base sequences of a huge number of DNA fragments.
TACSTD2 gene analysis (corneal dystrophy)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
Dystrophin gene analysis (Duchenne muscular dystrophy and Becker muscular dystrophy)	Blood (EDTA-2Na added) 2.0	PN2,PN5			12-23	MLPA MLPA (Multiplex ligation-dependent probe amplification) After hybridizing a specific probe fused with a common PCR primer sequence to the labeled region, PCR is performed, and quantitative changes in the amplified products are investigated using a relatively large genome. Methods for detecting deletions or duplications.	No gene deletions or duplications observed
Fukutin gene DNA insertion	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	PCR PCR (Polymerase chain reaction) Uses the fact that DNA dissociates from double strands to single strands when heated and returns to double strands when cooled, and binds the desired primer using single stranded DNA as a template. A method in which the target DNA region is exponentially amplified by repeatedly performing DNA synthesis using the transcription reaction of DNA polymerase.	Not allowed to insert
Spinocerebellar Degeneration Gene Analysis	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	19-23	Multiplex PCR-fragment analysis
Congenital QT prolongation syndrome gene analysis	Blood (EDTA-2Na added) 5.0	PN5		（10 days）	35-80	Next Generation Sequencing (NGS) A method that uses a next-generation sequencer to simultaneously determine the base sequences of a huge number of DNA fragments.
MEFV gene analysis (Familial Mediterranean Fever)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	28-35	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
SOD1 gene analysis (amyotrophic lateral sclerosis)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	17-21	Direct sequence method Direct sequencing method A method of directly determining the base sequence using DNA amplified by PCR method as a template.
HTT gene CAG repeat sequence analysis (Huntington's disease)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	PCR PCR (Polymerase chain reaction) Uses the fact that DNA dissociates from double strands to single strands when heated and returns to double strands when cooled, and binds the desired primer using single stranded DNA as a template. A method in which the target DNA region is exponentially amplified by repeatedly performing DNA synthesis using the transcription reaction of DNA polymerase.
Androgen receptor gene CAG repeat sequence analysis (Spinal bulbar muscular atrophy)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	12-16	PCR PCR (Polymerase chain reaction) Uses the fact that DNA dissociates from double strands to single strands when heated and returns to double strands when cooled, and binds the desired primer using single stranded DNA as a template. A method in which the target DNA region is exponentially amplified by repeatedly performing DNA synthesis using the transcription reaction of DNA polymerase.
Y chromosome microdeletion (AZF deletion)	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	7-11	PCR-rSSO method
Genetic test (Intellectual disability and epilepsy group)〔WES〕	Blood (EDTA-2Na added) 7.0	PN7		（3 days）	Please contact us in advance.	Next Generation Sequencing (NGS) A method that uses a next-generation sequencer to simultaneously determine the base sequences of a huge number of DNA fragments.
Y-chromosome microdeletion (AZF deletion)（Suspended beyond orders placed 07-29-2022）	Blood (EDTA-2Na added) 2.0	PN2,PN5		（3 days）	3-9	PCR-rSSO method
Mitochondrial DNA 11778 salt base point mutation (Reber's disease)（Suspended beyond orders placed 03-29-2018）	Blood (EDTA-2Na added) 2.0	PN2,PN5			12-16	gFCS gFCS(Gene analysis by Fluorescence Correlation Spectroscopy) A gene analysis method in which PCR is performed using primers labeled with fluorescent substances, and differences in the size of primer molecules are measured by a single molecule fluorescence analysis system as differences in time variation of fluorescence intensity (fluorescence fluctuation) and analyzed using fluorescence correlation spectroscopy (FCS).	No mutations detected
Mitochondrial DNA 3243 salt base point mutation（Suspended beyond orders placed 03-30-2018）	Blood (EDTA-2Na added) 2.0	PN2,PN5			12-16	gFCS gFCS(Gene analysis by Fluorescence Correlation Spectroscopy) A gene analysis method in which PCR is performed using primers labeled with fluorescent substances, and differences in the size of primer molecules are measured by a single molecule fluorescence analysis system as differences in time variation of fluorescence intensity (fluorescence fluctuation) and analyzed using fluorescence correlation spectroscopy (FCS).	No mutations detected

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