BRCA Somatic Multiplex I (gDNA)

BRCA Somatic Multiplex Reference Standard Genomic DNA

With this product you are able to:

Analyze the specificity and specificity of your assay
Optimize and validate new cancer panels and routinely monitor the performance of your assay

Format
Genomic DNA

Genes Covered

BRCA1, BRCA2, BRIP1, BARD1 and NBN

Cosmics

Allelic Frequencies

7.5-60%

Buffer

Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1

Presence confirmed in parental cell line

Chromosome	Genomic Coordinates	Gene	Variant	Expected Allelic Frequency, %	Observed by Targeted Sequencing
17	41223094	BRCA1	S1613G	7.5	5.4
17	41244000	BRCA1	K1183R	7.5	7.1
17	41245090	BRCA1	K820E	7.5	5
17	41234451	BRCA1	R1443STOP	32.5	23.5
17	41246245	BRCA1	D435Y	7.5	6.4
17	41244936	BRCA1	P871L	15	13.6
13	32906480	BRCA2	N289H	7.5	6.4
13	32929387	BRCA2	V2466A	100	100
13	32911463	BRCA2	N991D	7.5	4.7
13	32913558	BRCA2	K1691fs	32.5	28.7
13	32913836	BRCA2	N1784fs	40	33.8
13	32912750	BRCA2	D1420Y	32.5	27.9
13	32937354	BRCA2	I2675fs	10	8.6
17	59763347	BRIP1	S919P	100	100
2	215645464	BARD1	R378S	42.5	Not Covered
8	90990479	NBN	E185Q	60	Not Covered

Unit Size

1µg

Concentration

50ng/µl

Storage

4˚C

Expiry

See all product shelf life information

Allelic Frequency

Droplet Digital PCR™

Genotype

Sanger sequencing of locus specific PCR

Quality

Agarose gel electrophoresis

Quantification

Spectrophotometry (A260)