0A
0A — BRCA1 (hereditary breast/ovarian cancer)
0B
0B — BRCA2 (hereditary breast cancer)
0C
0C — Neurofibromin (neurofibromatosis, type 1)
0D
0D — Merlin (neurofibromatosis, type 2)
0E
0E — C-RET (MEN types 2A/B, familial medullary thyroid carcinoma)
0F
0F — VHL (von Hippel-Lindau disease, renal carcinoma)
0G
0G — SDHD (hereditary paraganglioma)
0H
0H — SDHB (hereditary paraganglioma)
0J
0J — MLH1 (HNPCC, mismatch repair genes)
0K
0K — MSH2, MSH6, or PMS2 (HNPCC, mismatch repair genes)
0L
0L — APC (hereditary polyposis coli)
0M
0M — RB (retinoblastoma)
0O
0O — PTEN (Cowden's syndrome)
0Z
0Z — Solid tumor gene, NOS
1A
1A — WT1 or WT2 (Wilm's tumor)
1B
1B — PAX3, PAX7, or FOXO1A (alveolar rhabdomyosarcoma)
1C
1C — FLI1, ERG, ETV1, or EWSR1 (Ewing's sarcoma, desmoplastic round cell)
1D
1D — DDIT3 or FUS (myxoid liposarcoma)
1E
1E — NR4A3, RBF56, or TCF12 (myxoid chondrosarcoma)
1F
1F — SSX1, SSX2, or SYT (synovial sarcoma)
1G
1G — MYCN (neuroblastoma)
1H
1H — COL1A1 or PDGFB (dermatofibrosarcoma protruberans)
1I
1I — TFE3 or ASPSCR1 (alveolar soft parts sarcoma)
1J
1J — JAZF1 or JJAZ1 (endometrial stromal sarcoma)
2A
2A — RUNX1 or CBFA2T1 (AML1/ETO)
2C
2C — PBX1 or TCF3, CGF1
2E
2E — MLL (acute leukemia)
2I
2I — CCND1, BCL1, cyclin D1 (mantle cell lymphoma, myeloma)
2J
2J — MYC (Burkitt lymphoma), c-MYC (lymphoma)
2K
2K — IGH (lymphoma/leukemia)
2L
2L — IGK (lymphoma/leukemia)
2M
2M — TRB, T cell receptor beta (lymphoma/leukemia)
2N
2N — TRG, T cell receptor gamma (lymphoma/leukemia)
2O
2O — SIL or TAL1 (T cell leukemia)
2Q
2Q — API1 or MALT1 (MALT lymphoma)
2R
2R — NPM or ALK (anaplastic large cell lymphoma)
2S
2S — FLT3 (acute myelogenous leukemia)
2T
2T — BCL6 (B cell lymphoma)
2Z
2Z — Lymphoid/hematopoietic neoplasia, NOS
3A
3A — Factor V (Leiden, others) (hypercoagulable state)
3B
3B — FACC (Fanconi anemia)
3C
3C — FACD (Fanconi anemia)
3D
3D — HBB, beta globin (thalassemia, sickle cell anemia, other hemoglobinopathies)
3E
3E — HBA, alpha globin (thalassemia)
3F
3F — MTHFR (elevated homocystinemia)
3G
3G — Prothrombin (factor II, 20210A) (hypercoagulable state)
3H
3H — Factor VIII (hemophilia A/vWF)
3I
3I — Factor IX (hemophilia B)
3K
3K — Factor XIII (bleeding or hypercoagulable state)
3Z
3Z — Non-neoplastic hematology/coagulation, NOS
4I
4I — Fingerprint for engraftment
4J
4J — Fingerprint for donor allelotype
4K
4K — Fingerprint for recipient allelotype
4L
4L — Fingerprint for leukocyte chimerism
4M
4M — Fingerprint for maternal vs fetal origin
4N
4N — Microsatellite instability
4O
4O — Microsatellite loss (loss of heterozygosity)
4Z
4Z — Histocompatibility/blood typing, NOS
5A
5A — ASPA, aspartoacylase A (Canavan disease)
5B
5B — FMR-1 (Fragile X, FRAXA, syndrome)
5C
5C — FRDA, frataxin (Friedreich ataxia)
5D
5D — HD (Huntington's disease)
5E
5E — GABRA5, NIPA1, UBE3A, or ANCR GABRA (Prader Willi-Angelman syndrome)
5F
5F — GJB2, connexin-26 (hereditary hearing loss)
5G
5G — GJB1, connexin-32 (X-linked Charcot-Marie-Tooth disease)
5H
5H — SNRPN (Prader Willi-Angelman syndrome)
5I
5I — SCA1, ataxin-1 (spinocerebellar ataxia, type 1)
5J
5J — SCA2, ataxin-2 (spinocerebellar ataxia, type 2)
5K
5K — MJD, ataxin-3 (spinocerebellar ataxia, type 3, Machado-Joseph disease)
5L
5L — CACNA1A (spinocerebellar ataxia, type 6)
5M
5M — ATXN7, ataxin-7 (spinocerebellar ataxia, type 7)
5N
5N — PMP-22 (Charcot-Marie-Tooth disease, type 1A)
5O
5O — MECP2 (Rett syndrome)
5Z
5Z — Neurologic, non-neoplastic, NOS
6A
6A — DMD, dystrophin (Duchenne/Becker muscular dystrophy)
6B
6B — DMPK (myotonic dystrophy, type 1)
6C
6C — ZNF-9 (myotonic dystrophy, type 2)
6D
6D — SMN1/SMN2 (autosomal recessive spinal muscular atrophy)
6E
6E — MTTK, tRNAlys (myotonic epilepsy, MERRF)
6F
6F — MTTL1, tRNAleu (mitochondrial encephalomyopathy, MELAS)
7A
7A — APOE, apolipoprotein E (cardiovascular disease or Alzheimer's)
7B
7B — NPC1 or NPC2, sphingomyelin phosphodiesterase (Niemann-Pick disease)
7C
7C — GBA, acid beta glucosidase (Gaucher disease)
7D
7D — HFE (hemochromatosis)
7E
7E — HEXA, hexosaminidase A (Tay-Sachs disease)
7F
7F — ACADM (medium chain acyl CoA dehydrogenase deficiency)
7Z
7Z — Metabolic, other, NOS
8A
8A — CFTR (cystic fibrosis)
8B
8B — PRSS1 (hereditary pancreatitis)
8Z
8Z — Metabolic, transport, NOS
9A
9A — TPMT (thiopurine methyltransferase) (patients on antimetabolite therapy)
9B
9B — CYP2 genes, cytochrome P450 (drug metabolism)
9C
9C — ABCB1, MDR1 or P-glycoprotein (drug transport)
9D
9D — NAT2 (drug metabolism)
9L
9L — Metabolic-pharmacogenetics, NOS
9M
9M — FGFR1 (Pfeiffer and Kallman syndromes)
9N
9N — FGFR2 (Crouzon, Jackson-Weiss, Apert, Saethre-Chotzen syndromes)
9P
9P — TWIST (Saethre-Chotzen syndrome)
9Q
9Q — DGCR, CATCH-22 (DiGeorge and 22q11 deletion syndromes)
9Z
9Z — Dysmorphology, NOS