Test Catalog Search Results

6MAMX - Overview: 6-Monoacetylmorphine, Chain of Custody, Random, Urine

Determination of heroin use 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 demonstrating that, it is always...

DD22F - Overview: 22q11.2 Deletion/Duplication, FISH, Varies

Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies

HIAAP - Overview: 5-Hydroxyindoleacetic Acid, Plasma

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using a plasma specimen

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

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...

OHPG - Overview: 17-Hydroxyprogesterone, Serum

Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...

FLUC - Overview: 5-Flucytosine, Serum

Monitoring serum concentration during therapy Evaluating potential toxicity May aid in evaluating patient compliance

FAPCP - Overview: Fatty Acid Profile, Comprehensive (C8-C26), Serum

Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake) using serum specimens Monitoring treatment of essential fatty...

PFAPC - Overview: Fatty Acid Profile, Comprehensive (C8-C26), Plasma

Monitoring patients undergoing diet therapy for mitochondrial or peroxisomal disorders (possibly inducing essential fatty acid deficiency in response to restricted fat intake) using plasma specimens Monitoring treatment of essential fatty...

CHRBM - Overview: Chromosome Analysis, Hematologic Disorders, Bone Marrow

Assisting in the diagnosis and classification of certain malignant hematological disorders in bone marrow specimens Evaluating the prognosis in patients with certain malignant hematologic disorders Monitoring effects of treatment...

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood

Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.

PDBS - Overview: Pompe Disease, Blood Spot

Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting

ALPGP - Overview: Alport Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alport syndrome Establishing a diagnosis of Alport syndrome

GPSY - Overview: Glucopsychosine, Blood Spot

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

LD - Overview: Lactate Dehydrogenase (LDH), Serum

Investigation of a variety of diseases involving the heart, liver, muscle, kidney, lung, and blood Monitoring changes in tumor burden after chemotherapy; lactate dehydrogenase elevations in patients with cancer are too erratic to be of...

MPS1R - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I, decreased alpha-L-iduronidase activity) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired...

GPSYW - Overview: Glucopsychosine, Blood

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...

MPS1B - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I) (decreased alpha-L-iduronidase activity) Follow-up testing for evaluation of an abnormal newborn screening result for MPS...

COWB - Overview: Cobalt, Blood

Monitoring exposure to cobalt using whole blood specimens Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.

TIWB - Overview: Titanium, Blood

Detecting and monitoring titanium exposure and potential implant status in patients with orthopedic implants

LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...

PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot

Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, Pompe, Krabbe, or Fabry disease, or...

C9FX - Overview: C9 Complement, Functional, Serum

Diagnosis of C9 deficiency Investigation of a patient with a low total (hemolytic) complement level

C7FX - Overview: C7 Complement, Functional, Serum

Diagnosis of C7 deficiency Investigation of a patient with an undetectable total complement level

C6FX - Overview: C6 Complement, Functional, Serum

Diagnosis of C6 deficiency Investigation of a patient with an undetectable total complement level

C5FX - Overview: C5 Complement, Functional, Serum

Diagnosis of C5 deficiency Investigation of a patient with an undetectable total complement level

C1QFX - Overview: C1q Complement, Functional, Serum

Diagnosis of C1 deficiency Investigation of a patient with an absent total complement level

C2 - Overview: C2 Complement, Functional, with Reflex, Serum

Investigation of a patient with a low (absent) hemolytic complement, with reflex testing to C3 and C4, if appropriate

C4FX - Overview: C4 Complement, Functional, Serum

Diagnosis of C4 deficiency Investigation of a patient with an undetectable total complement level

C8FX - Overview: C8 Complement, Functional, Serum

Diagnosis of C8 deficiency Investigation of a patient with an undetectable total hemolytic complement level

AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

BTD - Overview: Biotinidase Deficiency, BTD Gene Sequencing with Deletion/Duplication, Varies

For confirming biotinidase deficiency as indicated by enzymatic testing or newborn screening Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing variants have not been identified in an...