Lysosomal Storage Disease Gene Mutation Panel, NGS

a.k.a.  Cholesteryl ester storage disease, comprehensive Lysosomal storage disorder panel Farber disease, Danon disease, Fabry disease, Gaucher disease, gene panel testing for lysosomal storage diseases, GM1 gangliosidosis, GM2 gangliosidosis, Hunter syndrome), Hurler syndrome, Hurler–Scheie syndrome, hyaluronidase deficiency, Krabbe disease, LSD panel, lysosomal, Lysosomal Storage Disease Panel, Lysosomal Storage Disease sequencing panel, Lysosomal storage diseases panel, Lysosomal transport diseases, Maroteaux–Lamy syndrome, Mucolipidosis, Neuronal ceroid lipofuscinoses, Niemann–Pick disease, Pompe disease, Sandhoff disease, Sanfilippo syndrome, Scheie syndrome, Schindler disease, Sly syndrome, Sulfatidosis, Tay–Sachs, Wolman disease


Test information includes:

  • LOINC codes
  • diseases the test is often used to detect or monitor
  • overview of the test
  • utility - when/why/how the test is used
  • specimen collection methods/procedures
  • testing methodology
  • usual turnaround time
  • interpretation of test results
  • reference ranges for test results (normal, abnormal, etc.)
  • diagnosis and billing codes
    • ICD-10-CM
    • ICD-9-CM
    • CPT
  • additional or related tests
  • references - more information about the tests
  • web resources - additional online information about the test
  • search by test name, synonym, LOINC code, disease or CPT/ICD code
  • filter by Methodology or Specimen Type
  • auto-suggest search terms

This product also includes Laboratory Decision System (LDS) rankings. LDS uses a proprietary ranking system that enables healthcare providers to correctly select and order the most relevant tests based on diseases, symptoms, and ICD-10 codes.

Access to this feature is available in the following products:
  • Medical Lab Tests w/LDS Ranks

SAMPLE PAGE showing data for:  ABO Group and Rh Typing


Test Overview
Test Information
Billing/Diagnosis/LOINC Codes
Diseases/Conditions
Additional Tests
References
Web Resources
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