Test ID: NPCKM
Niemann-Pick Type C Disease, Known Mutation
Fees 
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Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Conditional
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
81479- Unlisted molecular pathology procedure
81265 - Comparative analysis using Short Tandem Repeat {STRI markers; patient and comparative specimen (eg. Pretransplant recipient and donor germline testing, posttransplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample! and donor testing. twin zygosity testing, or maternal cell contamination of fetal cells) (if appropriate)
Amniotic Fluid Culture for Genetic Testing
88235-Tissue culture for amniotic fluid (if appropriate)
88240-Cryopreservation (if appropriate)
Fibroblast Culture for Genetic Testing
88233-Tissue culture, skin or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 27490 | Specimen | 31208-2 |
| 27491 | Specimen ID | N/A |
| 27492 | Source | N/A |
| 27493 | Order Date | N/A |
| 27494 | Reason For Referral | 42349-1 |
| 27495 | Method | In Process |
| 27496 | Result | In Process |
| 27497 | Interpretation | 69047-9 |
| 27498 | Amendment | In Process |
| 27499 | Reviewed By | N/A |
| 27500 | Release Date | N/A |
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