BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...

FARP - Overview: Autoimmune Retinopathy Panel by Immunoblot (ARP)

Autoimmune Retinopathy Panel by Immunoblot (ARP)

FABAA - Overview: Anti-bestrophin Autoantibodies

Anti-bestrophin Autoantibodies

FAMAN - Overview: Amantadine (Symmetrel)

Amantadine (Symmetrel)

FCHPZ - Overview: Chlorpromazine (Thorazine)

Chlorpromazine (Thorazine)

FHMTB - Overview: Hydrocodone and metabolites

Hydrocodone and metabolites

PROTR - Overview: Protriptyline (Vivactyl)

Protriptyline (Vivactyl)

FPHEG - Overview: Promethazine (Phenergan)

Promethazine (Phenergan)

FDILT - Overview: Diltiazem (Cardizem, Dilacor)

Diltiazem (Cardizem, Dilacor)

FDXAP - Overview: Dexedrine (Dextroamphetamine)

Dexedrine (Dextroamphetamine)

FCARP - Overview: Cancer-Associated Retinopathy Panel (CARP) by Immunoblot and IHC

Cancer-Associated Retinopathy Panel (CARP) by Immunoblot and IHC

FFVOX - Overview: Fluvoxamine (Luvox)

Fluvoxamine (Luvox)

FMETX - Overview: Methsuximide (Celontin) as Desmethylmethsuximide

Methsuximide (Celontin) as Desmethylmethsuximide

FMARP - Overview: Melanoma Associated Retinopathy MAR Panel by Immunoblot and IHC

Melanoma Associated Retinopathy MAR Panel by Immunoblot and IHC

FFTHI - Overview: Thiothixene (Navane)

Thiothixene (Navane)

FHAL - Overview: Triazolam (Halcion)

Triazolam (Halcion)

FZIP - Overview: Ziprasidone (Geodone, Zeldox)

Ziprasidone (Geodone, Zeldox)

FINAB - Overview: Insulin Autoantibodies (IAA)

Insulin Autoantibodies (IAA)

GNBLF - Overview: Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results are suggestive for factors VII, VIII, IX, or XI deficiency, or a von Willebrand...

GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...

NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...

GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...

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

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

HHTGG - Overview: Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...

HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...

LRCCZ - Overview: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...

SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members

NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies

Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...

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

CATLN - Overview: Calcitonin, Fine-Needle Aspiration Biopsy Needle Wash, Lymph Node

As an adjunct to cytologic examination of fine-needle aspiration specimens in athyrotic individuals treated for medullary thyroid carcinoma to confirm or exclude metastases in enlarged or ultrasonographically suspicious lymph nodes

FAMOX - Overview: Amoxapine (Asendin) and 8-Hydroxyamoxapine

Amoxapine (Asendin) and 8-Hydroxyamoxapine

FARI - Overview: Aripiprazole (Abilify)

Aripiprazole (Abilify)

FARWB - Overview: Anti-retinal autoantibodies follow up, WB

Anti-retinal autoantibodies follow up, WB

FIL2M - Overview: Interleukin 2

Interleukin 2

FGLIP - Overview: Glipizide (Glucotrol)

Glipizide (Glucotrol)

FGLMA - Overview: GlycoMark

GlycoMark

FLNZ - Overview: Olanzapine (Zyprexa)

Olanzapine (Zyprexa)

FENC - Overview: Encainide (Enkaid), ODE and MODE

Encainide (Enkaid), ODE and MODE

FFLUR - Overview: Flurazepam (Dalmane) and Desalkylflurazepam

Flurazepam (Dalmane) and Desalkylflurazepam

ALBSF - Overview: Albumin, Spinal Fluid

Assessment of blood-brain barrier permeability

RPHOC - Overview: Phosphorus, Random, Urine

Evaluation of hypo- or hyperphosphatemic states Evaluation of patients with nephrolithiasis

COKMX - Overview: Cocaine and Metabolite Confirmation, Chain of Custody, Meconium

Detecting in utero drug exposure up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen by...

PPFE - Overview: Protoporphyrins, Fractionation, Whole Blood

Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

DOCK8 - Overview: Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood

Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency This test is not useful for assessing DOCK8 carrier status.

LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood

Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.

TOXB - Overview: Toxoplasma gondii, Molecular Detection, PCR, Blood

Supporting the diagnosis of active toxoplasmosis, particularly in immunocompromised individuals

VRERP - Overview: Vancomycin-Resistant Enterococcus, Molecular Detection, PCR, Varies

Identifying carriers of vancomycin-resistant enterococci

MAMMX - Overview: 6-Monoacetylmorphine (6-MAM) Confirmation, Chain of Custody, Meconium

Detecting in utero heroin exposure up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen...

AN2TC - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Spinal Fluid

Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...