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Test ID: AJPWO    
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)

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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 using an analyte specific reagent. Its performance characteristics were 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.

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, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)

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 analysis, common variant (eg, IVS4+4A->T)

81209-BLM (Bloom syndrome, Rec! helicase-like) (eg, Bloom syndrome) gene analysis, 2281 del6ins7 variant

81330-SMPD1 (sphingomyelin phosphodiesterase 1, acid sysosomal) (eg, Niemann-Pick disease, Type A) gene analysis, common variants (eg, R496L, L302P, fsP330)

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 IDReporting NameLOINC Code
27174Specimen IDN/A
27176Order DateN/A
27179ResultIn Process
27177Reason For Referral42349-1
27181AmendmentIn Process
27182Reviewed ByN/A
27183Released DateN/A

LOINC and CPT codes are provided by the performing laboratory.