Table A1.

Type of BRCA1/2 Mutation Testing (N = 4,649)

Testing Type	BRCA1				BRCA2
	Total		Self-Reported Jewish		Total		Self-Reported Jewish
	No.	%	No.	%	No.	%	No.	%
Test not performed*	461	9.9	24	2.5	875	18.8	97	10
SSCP	17	0.4	3	0.3	3	0.1	0	0.0
SSCP + heteroduplex analysis	118	2.5	22	2.3	101	2.2	18	1.9
CSGE	29	0.6	3	0.3	24	0.5	3	0.3
Denaturing high-performance liquid chromatography	364	7.8	1	0.1	195	4.2	1	0.1
Southern blot	4	0.1	0	0.0	41	0.9	8	0.8
Protein truncation assay	42	0.9	2	0.2	38	0.8	1	0.1
Full gene sequencing or CSGE	868	18.7	141	14.6	756	16.3	110	11.4
Partial gene sequencing	17	0.4	3	0.3	66	1.4	30	3.1
Jewish panel	427	9.2	360	37.2	400	8.6	342	35.3
Other†	87	1.9	27	2.8	12	0.3	0	0.0
Single family mutation	498	10.7	31	3.2	370	8.0	21	2.2
Missing	1,717	36.9	352	36.3	1,768	38.0	338	34.9

NOTE. Data represent first reported testing procedure. Data on multiple testing procedures in a single participant, if performed, are unavailable.

Abbreviations: CSGE, conformation-sensitive gel electrophoresis; SSCP, single-strand conformation polymorphism.

^*Some participants did not receive testing for mutations in both BRCA1and BRCA2; however, all participants received testing for mutations in at least one of the two genes.

^†Other mutation testing procedures include multiplex ligation-dependent probe amplification, heteroduplex analysis, and quantitative polymerase chain reaction, as well as unspecified procedures.