Test Catalog Search Results
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Test FNFAS is obsolete. Please see the notice for more details.
CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members
SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with a skeletal muscle channelopathy Identifying variants within genes known to be associated with a skeletal muscle channelopathy allowing for predictive testing of at-risk family members
EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies
Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...
IL28Q - Overview: Interleukin 28B (IL28B) Variant (rs12979860), Varies
Predicting responsiveness of genotype 1 hepatitis C viral infections to combined pegylated-interferon and ribavirin-based therapies
DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...
HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome
SEP9Z - Overview: SEPTIN9 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy Identifying variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members
PCDGG - Overview: Primary Ciliary Dyskinesia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia Establishing a diagnosis of primary ciliary dyskinesia
PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...
STK1Z - Overview: Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks Identifying variants within genes known...
Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy
ALAGP - Overview: Alagille Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome
BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies
Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...
FB12 - Overview: Vitamin B12 and Folate, Serum
Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias Investigation of suspected folate deficiency Diagnosis of vitamin B12 deficiency-associated neuropathy
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
THCSM - Overview: Thyroid Function Cascade, Monitor (without Thyroid Peroxidase Antibody), Serum
Monitoring patients diagnosed with thyroid disease
SPSA - Overview: Prostate-Specific Antigen (PSA) Screen, Serum
As a screening aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men aged 50 years or older Screening to aid in the prognosis and management of individuals diagnosed with prostate cancer
PINP - Overview: Procollagen I Intact N-Terminal, Serum
Aiding in monitoring antiresorptive and anabolic therapy in patients with osteoporosis An adjunct in the assessment of conditions associated with increased bone turnover, such as Paget disease This test should not be used as a screening...
RHUT - Overview: Rheumatoid Factor, Serum
Diagnosis and prognosis of rheumatoid arthritis
TBGI - Overview: Thyroxine-Binding Globulin (TBG), Serum
Cases in which total thyroid hormone levels do not correlate with thyrometabolic status, most commonly with pregnancy or the use of contraceptive steroids
CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...
CLADP - Overview: Congenital Lactic Acidosis Panel, Varies
Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...
CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia
CHLGP - Overview: Cholestasis Gene Panel, Varies
Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...
APGP - Overview: Acute Porphyria Gene Panel, Varies
Establishing a molecular diagnosis for patients with acute porphyria Identifying variants within genes known to be associated with acute porphyria, allowing for predictive testing of at-risk family members
CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
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...
FASPG - Overview: Aspergillus IgG Precipitins Panel
Aspergillus IgG Precipitins Panel
3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies
Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including quetiapine This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or pravastatin since these drugs are...
CLLDF - Overview: Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies
Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) using a laboratory-designated probe set algorithm Distinguishing patients with 11;14 translocations who have the leukemic phase of...
TGAB - Overview: Thyroglobulin Antibody, Serum
As an adjunct in the diagnosis of autoimmune thyroid diseases: Hashimoto disease, postpartum thyroiditis, neonatal hypothyroidism, and Graves disease
IMIPR - Overview: Imipramine and Desipramine, Serum
Monitoring imipramine and desipramine concentrations during therapy Evaluating potential imipramine and desipramine toxicity May aid in evaluating patient compliance
Increased levels of neopterin are found during impaired renal function and viral infection in transplant patients. Elevated levels are also indicators for conditions related to impaired cellular immunity.
FBCEL - Overview: FISH, B-Cell Chronic Lymphocytic Leukemia Panel
FISH, B-Cell Chronic Lymphocytic Leukemia Panel
FCLCN - Overview: CLCN1 DNA Sequencing Test
CLCN1 DNA Sequencing Test
CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...
LSD6W - Overview: Lysosomal Disorders, Six-Enzyme Panel, Leukocytes
Diagnosis of the lysosomal disorders: Fabry (in male patients), Gaucher, Krabbe, mucopolysaccharidosis I (MPS I), acid sphingomyelinase deficiency (Niemann-Pick types A and B), and Pompe (glycogen storage disorder type II) This test is...
Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...
ATAXP - Overview: Inherited Ataxia Gene Panel, Varies
Establishing a molecular diagnosis for patients with ataxia Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members
LGB3S - Overview: Globotriaosylsphingosine, Serum
Diagnosis and monitoring of Fabry disease
GALCR - Overview: Galactocerebrosidase Reflex, Leukocytes
Diagnosis of Krabbe disease as a confirmatory reflex of the six-enzyme panel Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not recommended for carrier detection because of the...
BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...
NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.
CEAPC - Overview: Carcinoembryonic Antigen (CEA), Pancreatic Cyst Fluid
When used in conjunction with imaging studies, cytology, and other pancreatic cyst fluid tumor markers: -Distinguishing between mucinous and nonmucinous pancreatic cysts -Determining the likely type of malignant pancreatic cyst
COLIV - Overview: Collagen IV Immunostain, Technical Component Only
A marker of the basal lamina of capillaries and basement membranes in all organs