|
1
|
B‐NR
|
1. For SCD where the phenotype is suspected to be heritable, genetic testing is recommended to attempt to elucidate the genetic basis and to facilitate the identification of first‐degree family members at risk for developing the same disease (cascade testing). |
25, 80, 81, 82, 84, 85, 143
|
|
1
|
C‐LD
|
2. Genetic testing in the deceased proband with SCD and known phenotype should include only genes with robust evidence of gene–disease association. |
192
|
|
1
|
B‐NR
|
3. In first‐degree relatives of a proband with SCD from a suspected heritable cause, phenotype‐guided clinical screening is recommended and, where a genetic diagnosis is available, cascade genetic testing should be offered. |
25, 80, 81, 82, 84, 85, 143, 189, 193
|
|
1
|
B‐NR
|
4. In families affected by SCD who have undergone genetic testing, periodic re‐evaluation of the genetic test results is recommended. |
106, 194, 195, 196, 197, 198, 199, 200, 201
|
|
1
|
C‐LD
|
5. A genetic diagnosis made in a relative of a proband with SCD should be considered together with the clinical findings. |
70, 143, 189
|