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

List Fee Provides the Mayo Medical Laboratories list fee for performing the test

$364.20

The following test(s) will be added at an additional charge: 

$363.90 for #23425 Hexosaminidase A and Total, Leukocytes/Ashkenazi Jewish 

 

$728.10 = Total List Fee

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.

Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)

81290-MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A->G, de16.4kb)

81260-IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) (eg, familial dysautonomia) gene analysis, common variants (eg, 2507+6T->C, R696P)

81251-/GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+IG->A)

81242-FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A->T)

81200-ASPA (aspartoacylase (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y23l X)

81255-HEXA (hexosaminidase A (alpha polypeptide) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G->C, G269S)

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

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

 

Hexosaminidase A and Total, Leukocytes/Ashkenazi Jewish

83080 x 2

 

For nonparticipating payers:

Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)

83890-Molecular isolation or extraction

83892-Enzymatic digestion

83896 x 31-Nucleic acid probe, each

83900-Amplification, target, multiplex, first 2 nucleic acid sequences

83909-Separation and identification by high-resolution technique

83912-Interpretation and report

83914 x 31-Mutation identification by enzymatic ligation or primer extension, single segment, each segment

 

Hexosaminidase A and Total, Leukocytes/Ashkenazi Jewish

83080 x 2