c-KIT Mutation Analysis, Blood
Acid Sphingomyelinase Activity
Tryptase
Aortic Dysfunction or Dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome) Gene Mutation Panel, NGS
Porphobilinogen, Urine
Collagen Type II, Antibody
Muscle-Specific Kinase (MuSK) Autoantibody
Insulin, Free and Total
Biopsy, Frozen Section
Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants
LDS
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