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. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: J Genet Couns. 2012 Aug 11;22(2):10.1007/s10897-012-9532-8. doi: 10.1007/s10897-012-9532-8

Table 3.

Research Molecular Genetic Testing and Notification of Results

Genetic Testing Notification of Results
Number
of
Probands
Tested		 Number
of
Probands
Positive
for Rare
Variantsa 		Number
of
Family
Members
Tested		 Number of
Family
Members
Testing
Positive for
Family Rare
Variant		 Number
of
Families
Notified
of Rare
Varianta 		Number
of
Adults
Notifiedb 		Family
Notification
Not Possible
(Deceased
or No
Contact
Information)		 Family
Notification
Not
Indicated
LMNA Study
(Parks et al. 2008)		 324 19c 149 55 19 124
6 Gene Study
(Hershberger et al. 2008b)		 313
    LDB3 3c 4 2 2 6 0 1
    MYH7 13c 37 14 11 40 2 0
    SCN5A 8 49 15 5 22 1 2
    TCAP 3c 3 3 2 3 0 1
    TNNT2 9c 26 10 8 20 1 0
    CSRP3 1 0 0 1 1 0 0
    5 Gene Study
(Hershberger et al. 2010b)		 312
    MYBPC3 13c,d 32 11 12 28 1 0
    MYH6 10c,d 9 5 8 15 1 1
    TNNC1 4c 15 3 4 11 0 0
    TNNI3 2 6 3 2 6 0
    TPM1 6c 10 7 5 9 1 0
RBM20
Study (Li et al. 2010)		 312 6c 51 18 5 23 1 0
BAG3 Study
(Norton et al. 2011)		 311 8c 27 15 6 45 2 0
a

Number of families notified is less than the number of probands positive because the notification was not possible or not indicated.

b

Number of adults notified refers to both probands and family members, excluding minors.

c

Probands identified with a second mutation in a different gene. The number of probands (indicated in parenthesis) with additional mutations is as follows: LMNA (3); LDB3 (2); MYH7 (2); TCAP (1); TNNT2 (2); MYBPC3 (2); MYH6 (3); TNNC1 (2); TPM1 (1); RBM20 (2); BAG3 (2).

d

Two mutations in the same gene were identified in the same individual.