88887:
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis (CF)

CPT Code Information Current Value

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

CPT Code Information Value Prior to 1/01/2013 7:01am

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