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Test ID
Test Name
Disease
Technology
1
AML Panel (includes tests 2-9)
Acute myeloid leukemia (AML)
FISH
2
3q26 MECOM
Acute myeloid leukemia (AML)
FISH
3
del(5q)/monosomy 5
Acute myeloid leukemia (AML)
FISH
4
del(7q)/monosomy 7
Acute myeloid leukemia (AML)
FISH
5
t(8;21) RUNX1T1/RUNX1
Acute myeloid leukemia (AML)
FISH
6
11q23.3 KMT2A (MLL)
Acute myeloid leukemia (AML)
FISH
7
t(15;17) PML/RARA
Acute myeloid leukemia (AML)
FISH
8
inv(16) CBFB
Acute myeloid leukemia (AML)
FISH
9
17q21.1-21.2 RARA
Acute myeloid leukemia (AML)
FISH
10
t(16;16) CBFB/MYH11
Acute myeloid leukemia (AML)
FISH
20
MDS Panel (includes tests 21-24)
Myelodysplastic syndrome (MDS)
FISH
21
del(5q)/monosomy 5
Myelodysplastic syndrome (MDS)
FISH
22
del(7q)/monosomy 7
Myelodysplastic syndrome (MDS)
FISH
23
del (20q) / monosomy 20
Myelodysplastic syndrome (MDS)
FISH
24
Trisomy 8
Myelodysplastic syndrome (MDS)
FISH
30
MPN Panel (includes tests 31-33)
Myeloproliferative neoplasm (MPN)
FISH
31
del/trans 4q12
Myeloproliferative neoplasm (MPN)
FISH
32
5q32-33.1 PDGFRB
Myeloproliferative neoplasm (MPN)
FISH
33
8p11.2 FGFR1
Myeloproliferative neoplasm (MPN)
FISH
34
CML Panel: t(9;22) BCR/ABL/ASS
Chronic myeloid leukemia (CML)
FISH
40
CLL Panel (includes tests 41-46)
Chronic lymphocytic leukemia (CLL)
FISH
41
6q23.3 MYB
Chronic lymphocytic leukemia (CLL)
FISH
42
11q23.3 ATM
Chronic lymphocytic leukemia (CLL)
FISH
43
Trisomy 12
Chronic lymphocytic leukemia (CLL)
FISH
44
t(11;14) CCND1/IGH
Chronic lymphocytic leukemia (CLL)
FISH
45
del(13q) DLEU/LAMP1
Chronic lymphocytic leukemia (CLL)
FISH
46
17p13 TP53
Chronic lymphocytic leukemia (CLL)
FISH
50
MM Panel (includes tests 51-57)
Multiple myeloma (MM)
FISH
51
1p/1q CDKN2C/CKS1B
Multiple myeloma (MM)
FISH
52
Trisomy 7
Multiple myeloma (MM)
FISH
53
Trisomy 9
Multiple myeloma (MM)
FISH
54
Trisomy 11
Multiple myeloma (MM)
FISH
55
13q14.2 RB1
Multiple myeloma (MM)
FISH
56
14q32.3 IGH
Multiple myeloma (MM)
FISH
57
17p13 TP53
Multiple myeloma (MM)
FISH
58
MM Reflex Panel (includes tests 59-61)
Multiple myeloma (MM)
FISH
59
t(4;14) FGFR3/IGH
Multiple myeloma (MM)
FISH
60
t(11;14) CCND1/IGH
Multiple myeloma (MM)
FISH
61
t(14;16) IGH/MAF
Multiple myeloma (MM)
FISH
70
ALL Panel (includes tests 71-74)
Acute lymphoblastic leukemia (ALL)
FISH
71
8q24.21 MYC
Acute lymphoblastic leukemia (ALL)
FISH
72
t(9;22) BCR/ABL1/ASS
Acute lymphoblastic leukemia (ALL)
FISH
73
11q23.3 KMT2A (MLL)
Acute lymphoblastic leukemia (ALL)
FISH
74
14q32.3 IGH
Acute lymphoblastic leukemia (ALL)
FISH
80
Lymphoma Panel (includes tests 81-86)
Lymphoma
FISH
81
3q27 BCL6
Lymphoma
FISH
82
8q24.21 MYC
Lymphoma
FISH
84
t(11;14) CCND1/IGH
Lymphoma
FISH
85
14q32.3 IGH
Lymphoma
FISH
86
t(14;18) IGH/BCL2
Lymphoma
FISH
90
Triple Hit Lymphoma FISH Panel (includes Tests 91-93)
Aggressive Lymphoma
FISH
91
18q21.3 BCL2
Aggressive Lymphoma
FISH
92
3q27 BCL6
Aggressive Lymphoma
FISH
93
8q24.21 MYC
Aggressive Lymphoma
FISH
120
15q11.2 Prader-Willi/Angelman Syndromes
Prader-Willi Syndrome or Angelman Syndrome
FISH
121
7q11.23 Williams-Beuren Syndrome
Williams-Beuren Syndrome
FISH
122
22q11.2 DiGeorge Syndrome
DiGeorge Syndrome
FISH
123
17p13 Smith-Magenis/Miller-Dieker Syndromes
Smith-Magenis Syndrome or Miller-Dieker Syndrome
FISH
149
Chromosome Analysis for Constitutional Disorders
Developmental delay, multiple anomalies, and autism-spectrum disorders. Lymphomas. Can also be ordered on parents to determine if a copy number variant in a child is inherited or de novo.
Cytogenetics
150
Microarray – Postnatal SNP and Copy Number Array
Genetic chromosomal imbalances
Microarray
151
Chromosome Analysis, Bone Marrow or Peripheral Blood
Hematopoeitic Malignancies
Cytogenetics
152
Chromosome Analysis, Lymph Node (CHALN)
Lymphomas/Leukemias
Cytogenetics
200
NPM1 mutation
Acute myeloid leukemia (AML)
Molecular: PCR & Capillary Electrophoresis
201
JAK2 V617F mutation
Myeloproliferative neoplasm (MPN)
PCR
203
CALR mutation
Myeloproliferative neoplasm (MPN)
PCR and Capillary Electrophoresis
204
MPL mutation
Myeloproliferative neoplasm (MPN)
Molecular, PCR and Capillary Electrophoresis
206
TCR-Gamma
Lymphoma
Molecular, PCR and Capillary Electrophoresis
207
TCR-Beta
Skin Cancers
RT-PCR
208
BCR/ABLI P210 quantitative mutation
Chronic Myelogenous Leukemia (CML)
Quantitative RT-PCR
209
MYD88 L265P
Lymphoma
PCR
231
COVID-19 IgM Antibody Testing
COVID-19 Infection
Chemiluminescent Immunoassay (CLIA)
300
Human Neutrophil Antibodies (HNA)/ Neutrophil Associated Antibodies
TRALI (Transfusion Related Acute Lung Injury), SLE (Systemic Lupus Erythematosus), RA (Rheumatoid Arthritis), Myasthenia gravis, Felty's syndrome, drug-induced neutropenia
Bead-Based Multiplex Immunoassay
301
Platelet Antibody (Glycoprotein) Plasma/Eluate
The assay screens for the presence of circulating antibodies to platelets (not bound to the platelet surface), that may be associated with the destruction of platelets. This platelet antibody profile is designed to detect antibodies platelet glycoprotein IV (CD36) antigens, and to polymorphic epitopes on the platelet GPs IIb/IIIa, Ib/IX, and Ia/IIa.
Qualitative Enzyme-Linked Immunosorbent Assay
302
Fungitell® (1,3)-Beta-D-Glucan
Invasive Fungal Infections (including Candida, Aspergillus and Pneumocytosis)
Qualitative ELISA
303
Fungitell® ß-D-Glucan with Reflex to Titer
Invasive Fungal Infections (including Candida, Aspergillus and Pneumocytosis)
Qualitative ELISA
304
Hepatitis D (Anti HDV) Antibody
Hepatitis D
Qualitative ELISA
305
Hepatitis E, IgG, ELISA
Hepatitis E
Qualitative ELISA
306
Hepatitis E, IgM, ELISA
Hepatitis E
Qualitative ELISA
307
Hepatitis E, IgG & IgM, ELISA
Hepatitis E
Qualitative ELISA
400
Deceased Donor Evaluation
HLA Typing (Low Resolution, HLA-A, B, C (Class I), HLA-DRB1, DRB3/4/5, DQA1, DQB1, DPA1, DPB1 (Class II)
Real Time PCR, Flow Cytometry, Gel Agglutination
401
Living Donor Evaluation, Preliminary or Final
HLA Typing (Low Resolution), HLA-A, B, C (Class I), HLA-DRB1, DRB3/4/5, DQA1, DQB1, DPA1, DPB1 (Class II), Lymphocyte Crossmatch with Intended Recipient(s), ABO/Rh
Real Time PCR, Flow Cytometry, Gel Agglutination
402
HLA Antibody Monitoring (Pre-Transplant)
HLA Antibody by Luminex: HLA Antibody Screen (Class I and II) and/or HLA Antibody Identification, Reflex to Single Antigen (Class I or Class II if needed)
Luminex
403
Solid Organ Transplant Candidate Evaluation
HLA Typing (Low Resolution, HLA-A, B, C (Class I), HLA-DRB1, DRB3/4/5, DQA1, DQB1, DPA1, DPB1 (Class II), Lymphocyte Crossmatch with Intended Recipient(s), ABO/Rh
Real Time PCR, Flow Cytometry, Gel Agglutination, Luminex
404
HLA Antibody Monitoring (Post-Transplant)
Post-Transplant Monitoring for Solid Organ Transplant
HLA Antibody by Luminex: HLA Single Antigen Antibody Analysis (Class I and Class II)
405
HLA Antibody Screen, Class I and Class II
HLA antibodies are implicated in TRALI, can cause rejection and graft loss in solid organ transplantation, and may prevent engraftment in bone marrow and PBSC transplantation.
HLA Antibody by Luminex
501
Amino Acids (Full Profile)
Inborn Errors of Metabolism
High Pressure Liquid Chromatography (HPLC)
502
Phenylketonuria (PKU) Amino Acids (Phenylalanine and Tyrosine only)
Phenylketonuria (PKU)
High Pressure Liquid Chromatography (HPLC)
503
Maple Syrup Urine Disease (MSUD) Amino Acids (Valine, Leucine, Isoleucine, and Allo-Isoleucine only)
Maple Syrup Urine Disease (MSUD)
High Pressure Liquid Chromatography (HPLC)
505
Organic Acid Screen, Urine
Organic acidemias (including but not limited to methylmalonic acidemia, propionic acidemia, and isovaleric acidemia) , amino acid disorders, urea cycle disorders, and congenital lactic acidemias
GC (Gas Chromatography)/ MSD (Mass Selective Detector)
506
Orotic Acid, Urine
Urea cycle disorders (including but not limited to ornithine transcarbamylase (OTC) deficiency, citrullinemia, and argininosuccinic aciduria), lysinuric protein intolerance, hyperornithinemia, hyperammonemia, homocitrullinuria [HHH] syndrome, and hereditary orotic aciduria
Gas Chromatogram/Mass Spectrometry (GC/MS)
510
Disaccharide Activity Panel
Gastrointestinal dysfunction, lactose intolerance
Quantitative Spectrophotometry
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