Noonan Spectrum Disorders Gene Mutation Panel, NGS
BLM Gene (Bloom’s Syndrome) Mutation Analysis
Beta-Glucuronidase, Fibroblasts
Nortrimipramine, Urine
Aortic Dysfunction or Dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome) Gene Mutation Panel, NGS
Hemosiderin Stain, Urine
Hepatitis B Surface Antibody, Qualitative
WRAP53 Gene Mutation Analysis
Acid Sphingomyelinase Activity
MDM2 Gene Amplification, FISH

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/Medical Tests
/Whole Exome Sequence Analysis, NGS

All
Diseases
Overview
Clinical Utility
Interpretation
Reference Ranges
Methodology
Specimen Collection
Additional Testing
Turnaround Time
CPT
LOINC
ICD10
Additional ICD10
References

All
Diseases
Overview
Clinical Utility
Interpretation
Reference Ranges
Methodology
Specimen Collection
Additional Testing
Turnaround Time
CPT
LOINC
ICD10
Additional ICD10
References

Whole Exome Sequence Analysis, NGS
Medical Test

Clinical Utility

Access to Whole Exome Sequence Analysis, NGS is restricted.