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Shwachman-Diamond Syndrome: SBDS Sequencing
Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis
Skeletal Dysplasias: Achondroplasia
Skeletal Dysplasias: Hypochondroplasia
Skeletal Dysplasias: Thanatophoric Dysplasia
Specimen Type - Heart (Endocardium biopsy)
Specimen Type - Kidney (Mostly autopsies)
Specimen Type - Liver (Biopsies/Autopsies)
Specimen Type - Muscle (Biopsies/Autopsies)
Sphingomyelinase Enzyme Activity, Fibroblasts
Spinal and Bulbar Muscular Atrophy: AR Trinucleotide Repeat Analysis
Spinal Muscular Atrophy: SMN1 and SMN2 Deletion/Duplication Analysis
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