Alphabetical List of All Tests

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

 

 

A - B     (Back to top)

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/Immunoglobulin heavy 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     (Back to top)

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     (Back to top)

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     (Back to top)

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     (Back to top)

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     (Back to top)

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     (Back to top)

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     (Back to top)

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     (Back to top)

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     (Back to top)

Varicella Zoster Virus (VZV), qualitative realtime PCR

VZV (Varicella Zoster Virus), qualitative realtime PCR

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