|
Schwannomatosis type 2 |
approved
|
615670 |
|
|
|
|
Seizures, Cortical Blindness, Microcephaly Syndrome (SCBMS) |
approved
|
616632 |
|
|
|
|
Sengers Syndrome |
approved
|
212350 |
|
|
|
|
Senior-Loken Syndrome type 1 (SLSN1) |
approved
|
266900 |
|
|
|
|
Senior-Loken Syndrome type 4 (SLSN4) |
approved
|
606996 |
|
|
|
|
Senior-Loken Syndrome type 5 (SLSN5) |
approved
|
609254 |
|
|
|
|
Senior-Loken Syndrome type 6 (SLSN6) |
approved
|
610189 |
|
|
|
|
Senior-Loken Syndrome type 7 (SLSN7) |
approved
|
613615 |
|
|
|
|
Senior-Loken Syndrome type 8 (SLSN8) |
approved
|
616307 |
|
|
|
|
Senior-Loken Syndrome type 9 (SLSN9) |
approved
|
616629 |
|
|
|
|
Severe / Profound Global Developmental Delay and Epilepsy (GRM7 gene) |
approved
|
604101 |
|
|
|
|
Severe Combined Immune Deficiency (x-linked) (SCIDX1) |
approved
|
300400 |
|
|
Severe Combined Immunodeficiency – autosomal recessive |
approved
|
600802 |
|
|
Severe Combined Immunodeficiency (SCID) |
approved
|
601457 |
|
|
|
|
Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient) |
approved
|
102700 |
|
|
|
|
Short-Rib Thoracic Dysplasia, types 2 - 11, 13 and 14 |
approved
|
611263, 613091, 613819, 614376, 263520, 614091, 615503, 266920, 615630, 615633, 616300, and 616546 |
|
|
|
|
Shwachman-Diamond syndrome (SDS) |
approved
|
260400 |
|
|
|
|
Sialic Acid Storage Disorder (ISSD) |
approved
|
269920 |
|
|
|
|
Sickle Cell Anaemia* |
approved
|
603903 |
|
|
Simpson Golabi Behmel Syndrome Type 1 |
approved
|
312870 (to detect affected males) |
|
|
|
