Aortic Dysfunction or Dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome) Gene Mutation Panel, NGS
Thiamylal, Urine
Glucose Tolerance Test, 1 Hour Post-50g Oral Ingestion
Pyruvate, Spinal Fluid
Phosphorylated tau 217 (pTau 217), Plasma, (Quest AD-Detect®, ALZpath pTau217)
Williams Syndrome, 7q11.23 Deletion, FISH, Tissue
Phospholipid (Cardiolipin) Antibody, IgM
Acetoacetate (Ketones), Urine
Succinate Dehydrogenase (SDHA, SDHB, SDHC and SDHD) Gene Mutation Analysis
TGFB2 Gene Mutation Analysis

Whole Exome Sequence Analysis, NGS
Medical Test

Access to Whole Exome Sequence Analysis, NGS is restricted.