Test ID: AJPWO
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)
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.
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
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.
81200 ASPA aspartoacylase (eg, Cnavan disease) gene analysis, common variants (eg, E285A, Y231X)
81330 SMPD1 (sphingomyelin phosphodiesterase 1, acid sysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330)
81290 MCOLN1 (mucolipin 1) (eg. Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb)
81260 IKBKAP (inhibitor of kappa light polypeptide gene enhance in B-cells, kinase complex-associated protein) (eg. Familial dysautonomia) gene analysis common variants (eg, 2507_6T>C, R696P
81255 HEXA (hexosaminidase A (alpha polypeptide) (eg. Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S)
81251 GBA (glucosidase, beta acid) (eg. Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A)
81242 FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysi, common variant (eg IVS4+4A>T)
81209 BLM (Bloom syndrome, Rec! helicase-like) (eg, Bloom syndrome) gene analysis, 2281 del6ins7 variant
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 |
|---|---|---|
| 27173 | Specimen | 31208-2 |
| 27174 | Specimen ID | N/A |
| 27175 | Source | N/A |
| 27176 | Order Date | N/A |
| 27179 | Result | In Process |
| 27180 | Interpretation | 69047-9 |
| 27177 | Reason For Referral | 42349-1 |
| 27178 | Method | In Process |
| 27181 | Amendment | In Process |
| 27182 | Reviewed By | N/A |
| 27183 | Released Date | N/A |
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