Division of Molecular Genomic Pathology - All Tests

Each of the links below leads to an information form about the test including the method, turnaround time, CPT codes and pricing. For test requisition forms, please click here.

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A - B   C - D   E - F    G - H   I - L   M - O    P - R   S   T    U - Z

A - B

Adenovirus, qualitative realtime PCR
Bacterial strain identification (rRNA gene sequence analysis)
BCL2/Immunoglobulin heavy chain translocation, t(14;18) ?Major breakpoint cluster region (Mbr),PCR
BCL2/Immunoglobulin heavy chain translocation, t(14;18) ?Major breakpoint cluster region (Mbr), Southern blot
BCL2/Immunoglobulin heavy chain translocation, t(14;18) ?minor cluster region (mcr), PCR
BCL2/Immunoglobulinheavy chain translocation, t(14;18) ?minor cluster region (mcr), Southern blot
BCL6 translocation, t(3;others), Southern blot
BCR-ABL translocation (M-BCR: major breakpoint), t(9;22) (CML, some cases of ALL), quantitative real-time RT-PCR
BCR-ABL translocation (m-BCR: minor breakpoint), t(9;22) (some cases of ALL), quantitative real-time RT-PCR
BK (Polyoma) virus, Quantitative PCR
BRCA 1 and 2 (Ashkenazi Jewish Screening Panel) for hereditary breast cancer
Breast Cancer, hereditary (BRCA1/2 Ashkenazi Jewish Screening Panel)

C - D

CLL sequencing analysis for mutated/non-mutated status of immunoglobulin heavy chain gene variable regions
CMV (Cytomegalovirus), PCR
c-MYC translocations, t(8;14) and t(8;22) and t(2;8), Southern blot
Consultation
Cystic Fibrosis (ACMG 23 mutation panel) with polyT analysis
Cytomegalovirus (CMV), qualitative realtime PCR
DNA Isolation and Storage

E - F

EBV (Epstein-Barr Virus) Clonality Studies, Southern blot
EBV (Epstein-Barr Virus), qualitative realtime PCR
Epstein-Barr Virus (EBV) Clonality Studies, Southern blot
Epstein-Barr Virus (EBV), qualitative realtime PCR
Factor II (Prothrombin 20210G>A) (Invader)
Factor V Leiden (Invader)
Fragile X Syndrome

G - H

HBV (Hepatitis B Virus), PCR , quantitative in plasma, qualitative for liver
HCV (Hepatitis C Virus), genotype (DNA sequence analysis)
HCV (Hepatitis C Virus), genotype (Invader)
HCV (Hepatitis C Virus), RT-PCR, quantitative in plasma, qualitative for liver
Hemochromatosis
Hepatitis B (HBV), PCR , quantitative in plasma, qualitative for liver
Hepatitis C virus (HCV) genotype, DNA sequence analysis
Hepatitis C virus (HCV), genotype (Invader)
Hepatitis C Virus (HCV), RT-PCR, Quantitative
Hereditary Pancreatic carcinoma (PALLD gene sequencing)
Hereditary Pancreatitis (R122H, N29I, A16V)
Hereditary Paraganglioma/pheochromocytoma (SDHD / SDHB / SDHC), full gene sequence analysis
Herpes Simplex Virus (Types 1,2), qualitative realtime PCR
HIV-1 (Human Immunodeficiency Virus, Type 1), Quantitative RT-PCR (Viral Load) , ultrasensitive
HSV-1 (Herpes Simplex Virus, Type 1), qualitative realtime PCR
HSV-2 (Herpes Simplex Virus, Type 2), qualitative realtime PCR
HTLV-I (Human T-cell Leukemia Virus, Type I), qualitative realtime PCR
HTLV-II (Human T-cell Leukemia Virus, Type II), qualitative realtime PCR
Human Immunodeficiency Virus, Type 1 (HIV-1), Quantitative RT-PCR (Viral Load), ultrasensitive
Human T-cell Leukemia Virus, Type 1 (HTLV-1), qualitative realtime PCR
Human T-cell Leukemia Virus, Type II (HTLV-II), qualitative realtime PCR
Huntington Disease
   Specific Test Information
   Symptomatic Testing Information for Patients
   Presymptomatic Testing Information for Patients

I - L

Immunoglobulin heavy chain gene rearrangement, PCR
Immunoglobulin heavy chain gene rearrangement, Southern Blot
Isovaleric Acidemia (Isovaleryl-CoA-Dehydrogenase gene sequencing)
JAK2 V617F mutation testing (PCR), myeloproliferative disorders
JC (Polyoma) virus, qualitative real-time PCR
Kennedy Disease (Spinal & Bulbar Muscular Atrophy), X-linked
Lymphedema distichiasis syndrome (FOXC2 gene sequencing)

M - O

Malignant hyperthermia (RYR1 gene sequenced analysis, partial)
MCAD deficiency (medium chain Acyl-CoA-Dehydrogenase), exon 11 (>90% mutations)
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis and Stroke Syndrome)
MEN2A/B (c-RET oncogene) for Multiple Endocrine Neoplasia, Type 2, exons 10,11,13,14,15,16)
MERRF (Myoclonic Epilepsy with Ragged Red Fibers)
Methylenetetrahydrofolate reductase (MTHFR), 677C>T Thermolabile polymorphism (Invader)
Mitochondrial Mutation Panel (MELAS, MERRF, NARP)
Molecular Diagnostics consultation
MTHFR, 677C>T Thermolabile Polymorphism (Invader)
Multiple Endocrine Neoplasia, Type 2 (MEN 2A/2B, c-RET oncogene) (exons 10,11,13,14,15,16)
NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa)

P - R

Pancreatic secretory trypsin inhibitor (SPINK1, a.k.a. Serine protease inhibitor, kazal type 1) , PCR
PML;RAR-alpha translocation, t(15;17), RT-PCR, qualitative, nested
PML;RAR-alpha translocation, t(15;17), RT-PCR, quantitative
Polyoma (BK or JC) Virus, auantitative or qualitative real-time PCR
Prothrombin 20210G>A (Factor II)
RNA Isolation and Storage
RYR1 gene sequence analysis, partial (Malignant hyperthermia)

S

SDHB (Hereditary Paraganglioma/pheochromocytoma), full gene sequencing
SDHC (Hereditary Paraganglioma/pheochromocytoma), full gene sequencing
SDHD (Hereditary Paraganglioma/pheochromocytoma), full gene sequencing
Serine protease inhibitor, kazal type 1 (SPINK1), PCR
SMA (Spinal Muscular Atrophy), autosomal recessive (types I, II, and III) , PCR (diagnostic, not carrier)
Spinal & Bulbar Muscular Atrophy, X-linked (Kennedy Disease)
Spinal Muscular Atrophy, autosomal recessive (types I, II, and III), PCR (diagnostic, not carrier)
SPINK1 (Serine protease inhibitor, kazal type 1), PCR
Storage, DNA and/or RNA

T

t(11q23;others), MLL translocation, Southern blot
t(14;18) (BCL2;IGH) ?Major breakpoint cluster region (Mbr), PCR
t(14;18) (BCL2;IGH) ?Major breakpoint cluster region (Mbr), Southern blot
t(14;18) (BCL2;IGH) ?minor cluster region (mcr), PCR
t(14;18) (BCL2;IGH) ?minor cluster region (mcr), Southern blot
t(15;17), PML;RAR-alpha, RT-PCR, qualitative, nested
t(15;17), PML;RAR-alpha, RT-PCR, quantitative
t(3;others), BCL6;others, Southern blot
t(8;others), c-MYC;Ig, Southern blot
t(9;22), BCR-ABL translocation (M-BCR: major breakpoint) (CML, some cases of ALL), quantitative real-time RT-PCR
t(9;22), BCR-ABL translocation (m-BCR: minor breakpoint) (some cases of ALL), quantitative real-time RT-PCR
T-cell receptor beta chain gene rearrangement, Southern Blot
T-cell receptor gamma chain gene rearrangement, PCR

U - Z

Varicella Zoster Virus (VZV), qualitative realtime PCR
VZV (Varicella Zoster Virus), qualitative realtime PCR