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Myopathy Superpanel
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Prepair 1000+
Prepair 500+
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Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
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Severe Combined Immunodeficiency (absent T present B cells)
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Skeletal dysplasia
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Stickler Syndrome
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Transplant Co-Morbidity Superpanel
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Vascular Malformations SuperPanel
Vasculitis
Ventricular Fibrillation
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Vitreoretinopathy
Wilms Tumour
Version
Panel Version
1.58
Gene or Genomic Entity Name
RILPL1_OPDM4_CGG
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27 Apr 2025
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.58
RILPL1_OPDM4_CGG
Bryony Thompson OPDM4_RILPL1_CGG was changed to RILPL1_OPDM4_CGG