Table 1 Participant characteristics.
CATEGORY | DETAILS |
|---|---|
Total Participants | 74 |
COMBINED FEMALE AND MALE AGE STATISTICS | |
Age Range | 18 to 75 years |
Median Age | 36 years (IQR 25–53) |
AGE DISTRIBUTION | |
18–19 years | 6 (8.1%) |
20–29 years | 23 (31.0%) |
30–39 years | 14 (18.9%) |
40–49 years | 5 (6.8%) |
50–59 years | 19 (25.7%) |
60 and above | 7 (9.5%) |
ANCESTRY PROFILE | |
African | 7 (9.5%) |
Mixed Ancestry South African | 18 (24.3%) |
Caucasian | 44 (59.5%) |
Indian | 5 (6.7%) |
DIAGNOSTIC YIELD IN INDEX PARTICIPANTS (n = 43) | |
Positive Pathogenic Result | 17 (39.5%) |
Positive Carrier Status | 7 (16.3%) |
Variant of Uncertain Significance (VUS) | 12 (27.9%) |
Negative Result | 7 (16.3%) |
FAMILY VARIANT TESTING (n = 31) | |
Familial Carrier Status Screening | 13 (41.9%) |
Familial Symptomatic Diagnostic Test | 4 (12.9%) |
Familial Asymptomatic Predictive Test | 11 (35.5%) |
Familial VUS Resolution | 3 (9.7%) |
FAMILY VARIANT TEST OUTCOMES | |
Variant Detected (Carrier Screening) | Parent (4), Sibling (3) |
Variant Not Detected (Carrier Screening) | Offspring (2), Parent (3), Sibling (1) |
Variant Detected (Symptomatic Diagnostic Test) | Parent (1), Sibling (3) |
Variant Detected (Asymptomatic Predictive Test) | Offspring (1), Sibling (1) |
Variant Not Detected (Asymptomatic Predictive Test) | Offspring (4), Parent (2), Sibling (3) |
Variant Detected (VUS Resolution) | Parent (2) |
Variant Not Detected (VUS Resolution) | Offspring (1) |
