Genetic Testing Code Modifiers

Palmetto GBA does not require or recognize these modifiers. Do not submit these modifiers.

Modifier
Category
Description
0A
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
BRCA1 (hereditary breast/ovarian cancer)
0B
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
BRCA2 (hereditary breast cancer)
0C
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
Neurofibromin (neurofibromatosis, type 1)
0D
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
Merlin (neurofibromatosis, type 2)
0E
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
c-RET (multiple endocrine neoplasia, types 2A/B, familial medullary thyroid carcinoma)
0F
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
VHL (Von Hippel Lindau disease, renal carcinoma)
0G
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
SDHD (hereditary paraganglioma)
0H
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
SDHB (hereditary paraganglioma)
0I
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
ERRB2, common called Her-2/neu
0J
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
MLH1 (HNPCC, mismatch repair genes)
0K
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
MSH2, MSH6, or PMS2 (HNPCC, mismatch repair genes)
0L
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
APC (hereditary polyposis coli)
0M
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
Rb (retinoblastoma)
0N
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
TP53, commonly called p53
0O
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
PTEN (Cowden’s syndrome)
0P
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
KIT, also called CD117 (gastrointestinal stromal tumor)
0Z
Neoplasia (Solid Tumor, Excluding Sarcoma and Lymphoma)
Solid tumor gene, not otherwise specified
1A
Neoplasia (Sarcoma)
WT1 or WT2 (Wilm’s tumor)
1B
Neoplasia (Sarcoma)
PAX3, PAX7, or FOXO1A (alveolar rhabdomyosarcoma)
1C
Neoplasia (Sarcoma)
FLI1, ERG, ETV1, or EWSR1 (Ewing’s sarcoma, desmoplastic round cell)
1D
Neoplasia (Sarcoma)
DDIT3 or FUS (myxoid liposarcoma)
1E
Neoplasia (Sarcoma)
NR4A3, RBF56, or TCF12 (myxoid chondrosarcoma)
1F
Neoplasia (Sarcoma)
SSX1, SSX2, or SYT (synovial sarcoma)
1G
Neoplasia (Sarcoma)
MYCN (neuroblastoma)
1H
Neoplasia (Sarcoma)
COL1A1 or PDGFB (dermatofibrosarcoma protruberans)
1I
Neoplasia (Sarcoma)
TFE3 or ASPSCR1 (alveolar soft parts sarcoma)
1J
Neoplasia (Sarcoma)
JAZF1 or JJAZ1 (endometrial stromal sarcoma)
1Z
Neoplasia (Sarcoma)
Sarcoma gene, not otherwise specified
2A
Neoplasia (Lymphoid/Hematopoietic)
RUNX1 or CBFA2T1, commonly called AML1 or ETO, genes associated with t(8;21) AML1 – also ETO (acute myeologenous leukemia)
2B
Neoplasia (Lymphoid/Hematopoietic)
BCR or ABL1, genes associated with t(9;22) (chronic myelogenous or acute leukemia) BCR – also ABL (chronic myeloid, acute lymphoid leukemia)
2C
Neoplasia (Lymphoid/Hematopoietic)
PBX1 or TCF3, genes associated with t(1;19) (acute lymphoblastic leukemia) CGF1
2D
Neoplasia (Lymphoid/Hematopoietic)
CBFB or MYH11, genes associated with inv 16 (acute myelogenous leukemia) CBF beta (leukemia)
2E
Neoplasia (Lymphoid/Hematopoietic)
MLL (acute leukemia)
2F
Neoplasia (Lymphoid/Hematopoietic)
PML or RARA, genes associated with t(15;17) (acute promyelocytic leukemia) PML/RAR alpha (promyelocytic anemia)
2G
Neoplasia (Lymphoid/Hematopoietic)
ETV6, commonly called TEL, gene associated with t(12;21) (acute leukemia) TEL (leukemia)
2H
Neoplasia (Lymphoid/Hematopoietic)
BCL2 (B cell lymphoma, follicle center cell origin) bcl-2 (Lymphoma)
2I
Neoplasia (Lymphoid/Hematopoietic)
CCND1, commonly called BCL1, cyclin D1 (Mantle cell lymphoma, myeloma)) bcl-1 (lymphoma)
2J
Neoplasia (Lymphoid/Hematopoietic)
MYC (Burkitt lymphoma) c-myc (lymphoma)
2K
Neoplasia (Lymphoid/Hematopoietic)
IgH (lymphoma/leukemia)
2L
Neoplasia (Lymphoid/Hematopoietic)
IGK (lymphoma/leukemia)
2M
Neoplasia (Lymphoid/Hematopoietic)
TRB, T cell receptor beta (lymphoma/leukemia)
2N
Neoplasia (Lymphoid/Hematopoietic)
TRG, T cell receptor gamma (lymphoma/leukemia)
2O
Neoplasia (Lymphoid/Hematopoietic)
SIL or TAL1 (T cell leukemia)
2T
Neoplasia (Lymphoid/Hematopoietic)
BCL6 (B cell lymphoma)
2Q
Neoplasia (Lymphoid/Hematopoietic)
API1 or MALT1 (MALT lymphoma)
2R
Neoplasia (Lymphoid/Hematopoietic)
NPM or ALLK, genes associated with t(2;5) (anaplastic large cell lymphoma)
2S
Neoplasia (Lymphoid/Hematopoietic)
FLT3 (Acute myelogenous leukemia)
2Z
Neoplasia (Lymphoid/Hematopoietic)
Lymphoid/hematopoietic neoplasia, not otherwise specified
3A
Non-Neoplastic Hematology/Coagulation
F5, commonly called Factor V (Leiden, others) (hypercoagulable state)
3B
Non-Neoplastic Hematology/Coagulation
FACC (Fanconi anemia)
3C
Non-Neoplastic Hematology/Coagulation
FACD (Fanconi anemia)
3D
Non-Neoplastic Hematology/Coagulation
HBB, beta globin (thalassemia, sickle cell anemia, other hemoglobinopathies)
3E
Non-Neoplastic Hematology/Coagulation
HBA, commonly called alpha globin (thalassemia)
3F
Non-Neoplastic Hematology/Coagulation
MTHFR (elevated homocystinemia)
3G
Non-Neoplastic Hematology/Coagulation
F2, commonly called prothrombin (20210, others) (hypercoagulable state) prothrombin (factor II, 20210A) (hypercoagulable state)
3H
Non-Neoplastic Hematology/Coagulation
F8, commonly called factor VIII (hemophilia A/VWF)
3I
Non-Neoplastic Hematology/Coagulation
F9, commonly called factor IX (hemophilia B)
3K
Non-Neoplastic Hematology/Coagulation
F13, commonly called factor XIII (bleeding or hypercoagulable state) beta globin
3Z
Non-Neoplastic Hematology/Coagulation
Non-neoplastic hematology/coagulation, not otherwise specified
4A
Histocompatibility/Blood Typing/Identity/Microsatellite
HLA-A
4B
Histocompatibility/Blood Typing/Identity/Microsatellite
HLA-B
4C
Histocompatibility/Blood Typing/Identity/Microsatellite
HLA-C
4D
Histocompatibility/Blood Typing/Identity/Microsatellite
HLA-D
4E
Histocompatibility/Blood Typing/Identity/Microsatellite
HLA-DR
4F
Histocompatibility/Blood Typing/Identity/Microsatellite
HLA-DQ
4G
Histocompatibility/Blood Typing/Identity/Microsatellite
HLA-DP
4H
Histocompatibility/Blood Typing/Identity/Microsatellite
Kell
4I
Histocompatibility/Blood Typing/Identity/Microsatellite
Fingerprint for engraftment (post allogeneic progenitor cell transplant)
4J
Histocompatibility/Blood Typing/Identity/Microsatellite
Fingerprint for donor allelotype (allogeneic transplant)
4K
Histocompatibility/Blood Typing/Identity/Microsatellite
Fingerprint for recipient allelotype (allogeneic transplant)
4L
Histocompatibility/Blood Typing/Identity/Microsatellite
Fingerprint for leukocyte chimerism (allogeneic solid organ transplant)
4M
Histocompatibility/Blood Typing/Identity/Microsatellite
Fingerprint for maternal versus fetal origin
4N
Histocompatibility/Blood Typing/Identity/Microsatellite
Microsatellite instability
4O
Histocompatibility/Blood Typing/Identity/Microsatellite
Microsatellite loss (loss of heterozygosity)
4Z
Histocompatibility/Blood Typing/Identity/Microsatellite
Histocompatibility/blood typing, not otherwise specified
5A
Neurologic, Non-Neoplastic
ASPA, commonly called Aspartoacylase A (Canavan disease)
5B
Neurologic, Non-Neoplastic
FMR-1 (fragile X, FRAXA, syndrome)
5C
Neurologic, Non-Neoplastic
FRDA, commonly called Fraxatin (Freidreich ataxia)
5D
Neurologic, Non-Neoplastic
HD, commonly called Huntington (Huntington’s disease)
5E
Neurologic, Non-Neoplastic
GABRA5, NIPA1, UBE3A, or ANCR GABRA (Prader Willi-Angelman syndrome)
5F
Neurologic, Non-Neoplastic
GJB2, commonly called Connexin-26 (hereditary hearing loss) Connexin-32 (GJB2) (hereditary deafness)
5G
Neurologic, Non-Neoplastic
GJB1, commonly called Connexin-32 (X-linked Charcot-Marie-Tooth disease)
5H
Neurologic, Non-Neoplastic
SNRPN (Prader Willi-Angelman syndrome)
5I
Neurologic, Non-Neoplastic
SCA1, commonly called Ataxin-1 (spinocerebellar ataxia, type 1)
5J
Neurologic, Non-Neoplastic
SCA2, commonly called Ataxin-2 (spinocerebellar ataxia, type 2)
5K
Neurologic, Non-Neoplastic
MJD, commonly called Ataxin-3 (spinocerebellar ataxia, type 3, Machado-Joseph disease)
5L
Neurologic, Non-Neoplastic
CACNA1A (spinocerebellar ataxia, type 6)
5M
Neurologic, Non-Neoplastic
ATXN7 Ataxin-7 (spinocerebellar ataxia, type 7)
5N
Neurologic, Non-Neoplastic
PMP-22 (Charcot-Marie-Tooth disease, type 1A)
5O
Neurologic, Non-Neoplastic
MECP2 (Rett syndrome)
5Z
Neurologic, Non-Neoplastic
Neurologic, non-neoplastic, not otherwise specified
6A
Muscular, Non-Neoplastic
DMD, commonly called dystrophin (Duchenne/Becker muscular dystrophy)
6B
Muscular, Non-Neoplastic
DMPK (myotonic dystrophy, type 1)
6C
Muscular, Non-Neoplastic
ZNF-9 (myotonic dystrophy, type 2)
6D
Muscular, Non-Neoplastic
SMN1/SMN2 (autosomal recessive spinal muscular atrophy)
6E
Muscular, Non-Neoplastic
MTTK, commonly called tRNAlys (myotonic epilepsy, MERRF)
6F
Muscular, Non-Neoplastic
MTTL1, commonly called tRNAleu (mitochondrial encephalomyopathy, MELAS)
6Z
Muscular, Non-Neoplastic
Muscular, not otherwise specified
7A
Metabolic, Other
APOE, commonly called apolipoprotein E (cardiovascular disease or Alzheimer’s disease)
7B
Metabolic, Other
NPC1 or NPC2, common called sphingomyelin phosphodiesterase (Nieman-Pick disease_
7C
Metabolic, Other
GBA, commonly called acid beta glucosidase (Gaucher disease)
7D
Metabolic, Other
HFE (hemochromatosis)
7E
Metabolic, Other
HEXA, commonly called hexosaminidase A (Tay-Sachs disease)
7F
Metabolic, Other
ACADM (medium chain acyl CoA dehydrogenase deficiency)
7Z
Metabolic, Other
Metabolic, other, not otherwise specified
8A
Metabolic, Transport
CFTR (cystic fibrosis)
8B
Metabolic, Transport
PRSS1 (hereditary pancreatitis)
8C
Metabolic, Transport
Long QT syndrome, KCN (Jervell and Lange-Nielsen syndromes, types 1, 2, 5, and 6) and SCN (Brugada syndrome, SIDS and type 3)
8Z
Metabolic, Transport
Metabolic, transport, not otherwise specified
9A
Metabolic-Pharmacogenetics
TPMT, commonly called (thiopurine methyltransferase) (patients on antimetabolite therapy)
9B
Metabolic-Pharmacogenetics
CYP2 genes, commonly called cytochrome p450 (drug metabolism)
9C
Metabolic-Pharmacogenetics
ABCB1, commonly called MDR1 or p-glycoprotein (drug transport)
9D
Metabolic-Pharmacogenetics
NAT2 (drug metabolism)
9L
Metabolic-Pharmacogenetics
Metabolic-pharmacogenetics, not otherwise specified
9M
Dysmorphology
FGFR1 (Pfeiffer and Kallman syndromes)
9N
Dysmorphology
FGFR2 (Crouzon, Jackson-Weiss, Apert, Saethre-Chotzen syndromes)
9O
Dysmorphology
FGFR3 (achondroplasia, hypochondroplasia, thanatophoric dysplasia, types I and II, Crouzon syndrome with acanthosis nigricans, Muencke syndromes)
9P
Dysmorphology
TWIST (Saethre-Chotzen syndrome)
9Q
Dysmorphology
DGCR, commonly called CATCH-22 (DiGeorge and 22q11 deletion syndromes)
9Z
Dysmorphology
Dysmorphology, not otherwise specified