MSH2 - Overview: MSH2 Immunostain, Technical Component Only

Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...

FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum

An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

FH7GM - Overview: Herpesvirus 7 IgG and IgM Antibody Panel, IFA

Herpesvirus 7 IgG and IgM Antibody Panel, IFA

FAMBT - Overview: Amyloid Beta-Protein

Amyloid Beta-Protein

FCYTG - Overview: Cytomegalovirus IgG Avidity

Cytomegalovirus IgG Avidity

2HGA - Overview: 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine

Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine

LMPP - Overview: Lipoprotein Metabolism Profile, Serum

Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...

FPHIV - Overview: Phenosense HIV Drug Resistance Replication Capacity

Determines viral phenotype resistance to three classes of commonly prescribed antiretroviral drugs: nucleoside reverse transcriptase inhibitors (NRTI), non-nucleoside reverse transcriptase inhibitors (NNRTI), and protease inhibitors (PI)....

FFT4F - Overview: T4, Free, Direct Dialysis

T4, Free, Direct Dialysis

FCBDS - Overview: Cannabidiol, Serum

Cannabidiol, Serum

SERWB - Overview: Serotonin, Blood

In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...

SER - Overview: Serotonin, Serum

In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...

FPAB - Overview: Vitamin B5 (Pantothenic Acid) Bioassay

Vitamin B5 (Pantothenic Acid) Bioassay

FCICP - Overview: Circulating Immune Complex Panel

Circulating Immune Complex Panel

MISCF - Overview: Miscellaneous Studies Using Chromosome-Specific Probes, FISH

Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis Identifying gain, loss, or rearrangement of...

GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies

Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...

CHRAF - Overview: Chromosome Analysis, Amniotic Fluid

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements

CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood

Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements

CRDPU - Overview: Creatine Disorders Panel, Random, Urine

Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency

PSAFT - Overview: Prostate-Specific Antigen (PSA), Total and Free, Serum

As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL with digital rectal examination findings that are not suspicious for cancer

F822P - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Mutation Analysis, Prenatal

Prenatal testing for hemophilia A when a F8 intron 22 inversion has been identified in a family member

F81P - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Prenatal

Prenatal testing for hemophilia A when a F8 intron 1 inversion has been identified in a family member

MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process

DGGL - Overview: Gliadin (Deamidated) Antibody, IgG, Serum

Assessment of deaminated gliadin IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...

FSULU - Overview: Thiosulfate, Urine

Thiosulfate, Urine

MCM24 - Overview: Mast Cell Mediators, 24 Hour, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using 24-hour urine collections

FIN1A - Overview: Interleukin 1-Alpha

Interleukin 1-Alpha

FJCQP - Overview: JC Polyoma Virus DNA, Quantitative Real-Time PCR, Plasma

JC Polyoma Virus DNA, Quantitative Real-Time PCR, Plasma

FBART - Overview: Bartonella Antibody Panel, IFA CSF

Bartonella Antibody Panel, IFA CSF

GAST - Overview: Gastrin, Serum

Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma

SERU - Overview: Serotonin, 24 Hour, Urine

Diagnosis of a small subgroup of carcinoid tumors that produce predominately 5-hydroxytryptophan (5-HTP) but very little serotonin and chromogranin A Follow-up for patients with known or treated carcinoid tumors that produce predominately...

FPGT - Overview: Phenosense Combination HIV Drug Resistance Assay

Determines viral phenotype and genotype resistance to three classes of commonly prescribed antiretroviral drugs: nucleoside reverse transcriptase inhibitors (NRTI), nonnucleoside reverse transcriptase inhibitors (NNRTI), and protease...

FGAGM - Overview: Ganglioside (Asialo-GM1, GM1, GM2, GD1a, GD1b, and GQ1b) Antibodies

Ganglioside (Asialo-GM1, GM1, GM2, GD1a, GD1b, and GQ1b) Antibodies

FBUMT - Overview: Bupropion and Metabolite, Serum

Bupropion and Metabolite, Serum

FPD5C - Overview: Pyridoxal 5-phosphate (CSF)

Pyridoxal 5-phosphate (CSF)

FETCE - Overview: Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts

Mitochondrial Respiratory Chain Enzyme Analysis (ETC) - Skin Fibroblasts

FCLNE - Overview: Anti-Phosphatidylcholine Ab

Anti-Phosphatidylcholine Ab

CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing

NMS1 - Overview: Necrotizing Myopathy Evaluation, Serum

Evaluating patients with suspected necrotizing autoimmune myopathy

CMPRG - Overview: Family Member Comparator Specimen for Genome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing

TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood

Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...

CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...

F8INP - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal

Prenatal testing for hemophilia A when a variant has not been identified in the family

DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum

Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...

DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum

Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

CPVTG - Overview: Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT) Establishing a diagnosis of CPVT

HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy