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

308

Tissue Specific Antibodies in Early Sjögren’s Disease Diagnosis

Sjögren's Disease

Chemiluminescence

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