Test Directory - Understand Your Tests.

Walker-Warburg Syndrome

Synonyms

FUKUTIN
Jewish Heritage Test

Special Instructions

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.

Expected Turnaround Time

7 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.), or LabCorp buccal swab kit (Buccal swab collection kit contains instructions for use of a buccal swab.)

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab

Test Details

Use

Detection of the c.1167insA mutation on the FKTN gene, which accounts for approximately 99% of Walker-Warburg carriers in the Ashkenazi Jewish population.

Limitations

This test detects only the c.1167insA mutation

Methodology

Polymerase chain reaction (PCR) and primer extension

Additional Information

Walker-Warburg syndrome (WWS, OMIM 236070) is an inherited, autosomal recessive disorder characterized by a triad of brain malformations, eye abnormalities, and congenital muscular dystrophy. The clinical findings include muscle weakness, hypotonia, feeding difficulties, blindness, seizures, and mal genital anomalies. Characteristic brain malformations include cobblestone lissencephaly, among other findings. Life expectancy is less than three years. The disease has an elevated prevalence in the Ashkenazi Jewish population, with a carrier rate of 1 in 150. When both parents are carriers of WWS, there is a 25% chance with each pregnancy of having a child with the disease. Prenatal diagnosis is available. Molecular genetic testing for WWS encompasses one founder mutation in the gene encoding fukutin (FKTN gene, 9q31). Testing for the c.1167insA mutation identifies approximately 99% of WWS carriers in the Ashkenazi Jewish population. The carrier frequency in the non-Ashkenazi Jewish population has not been determined. A negative result decreases the likelihood that the individual is a carrier but cannot completely eliminate the possibility. The presence of a rare mutation cannot be ruled out. DNA test results must be combined with clinical information for the most accurate interpretation.

Wall Pellitory

Expected Turnaround Time

3 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Minimum Volume

0.1 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Walleye Pike

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Walnut

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Walnut (Pollen)

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Warfarin, Serum or Plasma

Synonyms

Coumadin®
Jantoven®
Sodium Warfarin

Expected Turnaround Time

2 - 3 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Serum or plasma

Volume

2 mL

Minimum Volume

0.6 mL

Container

Red-top tube, lavender-top (EDTA) tube, or green-top (heparin) tube. Do not use a gel-barrier tube. The use of gel-barrier tubes is not recommended due to slow absorption of the drug by the gel. Depending on the specimen volume and storage time, the decrease in drug level due to absorption may be clinically significant.

Collection

Transfer separated serum or plasma to a plastic transport tube.

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	14 days
Freeze/thaw cycles	Stable x3

Causes for Rejection

Gel-barrier tube

Test Details

Use

Warfarin is used for chronic oral anticoagulation in a variety of clinical settings. Management of warfarin therapy is usually by following the prothrombin time, rather than by measuring serum drug concentrations. Warfarin is subject to a bewildering number and variety of drug interactions, producing increased or decreased clinical effect of itself or other drugs. Many of these effects are due to changes in protein binding or hepatic metabolism. Reductions in dosage may be indicated for aging subjects treated for venous thromboembolic or coronary arterial disease, but not in those with peripheral vascular disease, deep vein thrombosis, or valvular heart disease.^1,2

Limitations

Assay measures sodium warfarin only. This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)

Reference Interval

1.0−10.0 μg/mL

Critical Value

Potentially toxic: >10.0 μg/mL

Additional Information

Warfarin is intermediate-acting; a peak effect is achieved in 36 to 72 hours and the anticoagulant effect persists for two to five days. The drug is rapidly and completely absorbed from the gastrointestinal tract. The delay in achieving the peak effect results from the long half-lives of clotting factors II, IX, and X, whose levels must decline before maximal anticoagulation is reached. Warfarin is highly lipophilic and is 99% bound to albumin. Some tissue binding occurs, particularly in the liver; however, only the unbound drug is active and available for hydroxylation in the liver. Therefore, co-administered agents which either increase the free fraction (eg, salicylates) or activate liver enzymes (eg, St John's wort) need to be monitored cautiously.³

Wasp, Paper

Synonyms

Paper Wasp
Venom

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Watermelon

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

West Nile Virus (WNV) Antibody

Synonyms

WNV Antibody

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Serum

Volume

1 mL

Minimum Volume

0.5 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	16 days
Refrigerated	16 days
Frozen	16 days
Freeze/thaw cycles	Stable x4

Causes for Rejection

Gross contamination; severe hemolysis; icteric serum; lipemic serum; quantity not sufficient for analysis

Test Details

Use

This test is indicated for use as an aid to the diagnosis of West Nile virus encephalitis.

Methodology

Enzyme immunoassay (EIA)

Reference Interval

Negative

Wet Prep

Test Includes

Clue cell exam; Trichomonas exam; yeast exam

Special Instructions

Store uninoculated InPouch™ TV test kits at room temperature.

Expected Turnaround Time

1 - 2 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Parasitology

Specimen Requirements

Specimen

Vaginal swab, sedimented first-void male urine, semen, prostatic fluid, or male urethral swab

Volume

Swab or one to two drops of fluid or sedimented urine

Container

InPouch™ TV transported at room temperature (for as long as 48 hours)

Collection

Specimens are inoculated directly into the culture media with the exception of urine specimens which are first centrifuged at 500xg and the sediment used for inocula. Collect specimens using a cotton swab. To avoid leakage, first move the medium at the top of the InPouch™ downward to the middle of the upper chamber. Tear off plastic above the white closure. In order to admit the swab, open the InPouch™ by pulling the closure tape's middle tabs apart. Insert swab into upper chamber medium of the InPouch™ TV and elute specimen by rubbing swab between the InPouch™ TV walls. Remove the swab and discard. Liquid specimens are added directly to the upper chamber medium of the InPouch™ TV. When specimen inoculation is completed, squeeze the top of the InPouch™ closed, then roll down three rolls and fold tabs over. Keep InPouch™ in an upright position.

Storage Instructions

Maintain specimen at room temperature for up to 48 hours; if held longer than 48 hours, incubation at 37°C is required. Do not refrigerate.

Causes for Rejection

Specimen received in the laboratory after 48 hours without incubation; expired product; specimen refrigerated; any transport except InPouch™ TV

Test Details

Use

Presumptive diagnosis of Trichomonas vaginalis infection

Methodology

Microscopic evaluation

Reference Interval

Negative for clue cells, Trichomonas, or yeast

Wet Prep With Reflex to Trichomonas Culture

Test Includes

Clue cell exam; Trichomonas exam; yeast exam; reflex to culture if negative for Trichomonas

Special Instructions

Store uninoculated InPouch™ TV test kits at room temperature. If reflex testing is performed, additional charge(s)/CPT code(s) will apply.

Expected Turnaround Time

4 - 6 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Parasitology

Specimen Requirements

Specimen

Vaginal swab, sedimented first-void male urine, semen, prostatic fluid, or male urethral swab

Volume

Swab or one to two drops of fluid or sedimented urine

Container

InPouch™ TV transported at room temperature (up to 48 hours)

Collection

Specimens are inoculated directly into the culture media with the exception of urine specimens which are first centrifuged at 500xg and the sediment used for inocula. Collect specimens using a cotton swab. To avoid leakage, first move the medium at the top of the InPouch™ downward to the middle of the upper chamber. Tear off plastic above the white closure. In order to admit the swab, open the InPouch™ by pulling the closure tape's middle tabs apart. Insert swab into upper chamber medium of the InPouch™ TV and elute specimen by rubbing swab between the InPouch™ TV walls. Remove the swab and discard. Liquid specimens are added directly to the upper chamber medium of the InPouch™ TV. When specimen inoculation is completed, squeeze the top of the InPouch™ closed, then roll down three rolls and fold tabs over. Keep InPouch™ in an upright position.

Storage Instructions

Maintain specimen at room temperature for up to 48 hours; if held longer than 48 hours, incubation at 37°C is required. Do not refrigerate.

Causes for Rejection

Specimen received in the laboratory after 48 hours without incubation; expired product; specimen refrigerated; any transport except InPouch™ TV

Test Details

Use

Presumptive diagnosis of Trichomonas vaginalis infection

Methodology

Microscopic evaluation with reflex to culture if negative

Reference Interval

Negative for clue cells, Trichomonas, or yeast

References

BioMed Diagnostics, http://www.biomed1.com.

Wheat

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Whey

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

White Bean

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

White Blood Cell (WBC) Count

Synonyms

Leukocyte Count
WBC
White Count

Expected Turnaround Time

Within 1 day

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood

Volume

Tube fill capacity

Minimum Volume

0.5 mL (500 μL for pediatric microtainer capillary tubes; fill tube to capacity.)

Container

Lavender-top (EDTA) tube

Collection

Invert tube immediately 8 to 10 times once tube is filled at time of collection.

Storage Instructions

Maintain specimen at room temperature.

Stability Requirements

Temperature	Period
Room temperature	1 day
Refrigerated	3 days
Frozen	Unstable
Freeze/thaw cycles	Unstable

Causes for Rejection

Hemolysis; clotted specimen; tube not filled with minimum volume; improper labeling; specimen received in any anticoagulant other than EDTA; specimen received with plasma removed; specimen diluted or contaminated with IV fluid; specimen received in whole blood transport tube

Test Details

Use

White cell enumeration; identify leukopenia and leukocytosis

Methodology

Automated cell counter

White Blood Cells (WBC), Stool

Synonyms

Fecal Leukocyte Stain
Stool for White Cells
WBC, Stool
White Cells, Stool

Test Includes

Evaluation of fecal material for the presence of WBC by direct smear and stain. CPT coding for microbiology and virology procedures often cannot be determined before the culture is performed.

Expected Turnaround Time

2 - 7 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Routine Microbiology

Specimen Requirements

Specimen

Stool

Volume

1 Gram

Container

Parasite (O & P) transport (PVA) vial only

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Quantity not sufficient for analysis; improper specimen transport device; improper labeling; unlabeled specimen or name discrepancy between specimen and request label; specimen received after prolonged delay

Test Details

Use

Assist in the differential diagnosis of diarrheal disease

Limitations

Ten percent to 15% of stools that yield an invasive bacterial pathogen have an absence of fecal leukocytes. Fecal leukocytes are present in idiopathic inflammatory bowel disease.

Methodology

Simple stain

Additional Information

Conditions associated with marked fecal leukocytes, blood and mucus include diffuse antibiotic associated colitis, ulcerative colitis, shigellosis, salmonellosis, Campylobacter, and Yersinia infection. Salmonella typhi may evoke a monocyte response. Conditions associated with modest numbers of fecal leukocytes include early shigellosis involving small bowel, antibiotic associated colitis, and amebiasis. Conditions associated with an absence of fecal leukocytes include toxigenic bacterial infection, giardiasis, and viral infections. In a review the methylene blue stain for polymorpholeukocytes had a high sensitivity 85% and specificity 88% for bacterial diarrhea (Shigella, Salmonella, Campylobacter). Positive predictive value was 59%. Negative predicative value was 97%. Combined with a history of abrupt onset, greater than four stools per day and no vomiting before the onset of diarrhea the stool methylene blue stain for fecal polymorphonuclear leukocytes was a very effective presumptive diagnostic test for bacterial diarrhea.¹ A positive occult blood test may also be suggestive of acute bacterial diarrhea. Neither method is sufficiently sensitive or specific to preëmpt the use of culture.² Similar findings including a sensitivity of 81% and specificity 74% were observed when both tests were positive.³

Whole Body: Mosquito

Expected Turnaround Time

3 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Whole Exome Sequencing - DUO

Special Instructions

This assay is not currently available in New York state. Samples must be accompanied by both a consent form and clinical questionnaire and/or supporting clinical documents or they will not be processed.

Expected Turnaround Time

2 - 4 weeks

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood

Volume

4 mL

Container

Lavender-top (EDTA) tube

Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.

Causes for Rejection

Frozen blood EDTA tube

Test Details

Use

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified; thus, it has a higher chance to find the cause of a heritable disease. WES can be used if a patient has symptoms, which, after exhaustive testing, cannot be linked to a diagnosis and corrective treatment is necessary to change the prognosis. WES can also be used if, upon clinical presentation, multiple disease states may be suspected and a clinician wishes to improve his/her testing approach. Once a genetic variant has been identified, this information can then be linked back to the phenotype of the patient, which will improve the pathway to a correct diagnosis and a suitable treatment plan can be administered. DUO testing consists of a proband or patient sample, and one biological parent or family member in the case that both parents are not available for testing.

Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Whole Exome Sequencing

Whole Exome Sequencing - Proband Only

Special Instructions

This assay is not currently available in New York state. Samples must be accompanied by both a consent form and clinical questionnaire and/or supporting clinical documents or they will not be processed.

Expected Turnaround Time

2 - 4 weeks

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood

Volume

4 mL

Container

Lavender-top (EDTA) tube

Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.

Causes for Rejection

Frozen blood EDTA tube

Test Details

Use

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified; thus, it has a higher chance to find the cause of a heritable disease. WES can be used if a patient has symptoms, which, after exhaustive testing, cannot be linked to a diagnosis and corrective treatment is necessary to change the prognosis. WES can also be used if, upon clinical presentation, multiple disease states may be suspected and a clinician wishes to improve his/her testing approach. Once a genetic variant has been identified, this information can then be linked back to the phenotype of the patient, which will improve the pathway to a correct diagnosis and a suitable treatment plan can be administered. Proband Only testing is exome sequencing for the patient only. Proband-only samples are acceptable when parental or other family member samples are not available.

Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Whole Exome Sequencing

Whole Exome Sequencing - TRIO

Special Instructions

This assay is not currently available in New York state. Samples must be accompanied by both a consent form and clinical questionnaire and/or supporting clinical documents or they will not be processed.

Expected Turnaround Time

2 - 4 weeks

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood

Volume

4 mL

Container

Lavender-top (EDTA) tube

Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.

Causes for Rejection

Frozen blood EDTA tube

Test Details

Use

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified; thus, it has a higher chance to find the cause of a heritable disease. WES can be used if a patient has symptoms, which, after exhaustive testing, cannot be linked to a diagnosis and corrective treatment is necessary to change the prognosis. WES can also be used if, upon clinical presentation, multiple disease states may be suspected and a clinician wishes to improve his/her testing approach. Once a genetic variant has been identified, this information can then be linked back to the phenotype of the patient, which will improve the pathway to a correct diagnosis and a suitable treatment plan can be administered. TRIO testing consists of a proband or patient sample, and both biological parents. In the case both parents are not available for testing, up to two family member samples are also accepted. Trios are preferred for better diagnostic sensitivity.

Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Whole Exome Sequencing

Willow

Synonyms

Black Willow

Expected Turnaround Time

2 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

0.2 mL

Container

Red-top tube or gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Wiskott-Aldrich Syndrome (WAS): WAS (Full Gene Sequencing)

Test Includes

This test covers all coding nucleotides of gene WAS, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5′ and 3′ UTR.

Special Instructions

In cases in which a known mutation can be documented, the physician may prefer to order test 252690. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

Expected Turnaround Time

28 - 35 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood; DNA is accepted (Call 800-345-4363 for DNA collection information.)

Volume

2 mL

Container

Lavender-top (EDTA) tube

Collection

Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Container broken or leaking; container not labeled or label not legible; improper anticoagulant

Test Details

Use

Confirm a clinical diagnosis of WAS; detect carriers; allow early diagnosis in family members

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies. Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.

Methodology

DNA sequencing

Reference Interval

Normal equals reference sequence or variants that are known or predicted to be benign; abnormal equals all other variants.

Additional Information

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune disorder characterized by eczema, thrombocytopenia, leading to a moderate to severe bleeding disorder, and cellular and humoral immunodeficiency, allowing recurrent infections by bacterial, viral, and fungal pathogens. Autoimmunity and malignancies are also common. Mutation in the gene WAS are the only known cause of WAS. Genetic testing can confirm a clinical diagnosis of WAS and detect mutation carriers within affected families.

Wiskott-Aldrich Syndrome (WAS): WAS (Known Mutation)

Test Includes

All coding nucleotides of the specified gene(s), plus at least two and typically 20 nucleotides flanking each coding region.

Special Instructions

This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order test 252459. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. In the case of family tests (ie, known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

Expected Turnaround Time

21 - 28 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Test Details

Methodology

DNA sequencing

Wormwood

Expected Turnaround Time

3 - 4 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

Individual Allergens

Specimen Requirements

Specimen

Serum

Volume

1 mL

Container

One 8.5 mL red-top tube or one 8.5 mL gel-barrier tube

Storage Instructions

Room temperature

Stability Requirements

Temperature	Period
Room temperature	14 days
Refrigerated	14 days
Frozen	3 months
Freeze/thaw cycles	Stable x3

Test Details

Methodology

Thermo Fisher ImmunoCAP®

Synonyms

Special Instructions

Expected Turnaround Time

Specimen Requirements

Specimen

Volume

Minimum Volume

Container

Storage Instructions

Causes for Rejection

Test Details

Use

Limitations

Methodology

Additional Information

Expected Turnaround Time

Related Information

Related Documents

Specimen Requirements

Specimen

Volume

Minimum Volume

Container

Storage Instructions

Test Details

Methodology

Expected Turnaround Time

Related Information

Related Documents

Specimen Requirements

Specimen

Volume

Container

Storage Instructions

Stability Requirements

Test Details

Methodology

Expected Turnaround Time

Related Information

Related Documents

Specimen Requirements

Specimen

Volume

Container

Storage Instructions

Stability Requirements

Test Details

Methodology

Expected Turnaround Time

Related Information

Related Documents

Specimen Requirements

Specimen

Volume

Container

Storage Instructions

Stability Requirements

Test Details

Methodology

Synonyms

Expected Turnaround Time

Related Documents

Specimen Requirements

Specimen

Volume

Minimum Volume

Container

Collection

Storage Instructions

Stability Requirements

Causes for Rejection

Test Details

Use

Limitations

Methodology

Reference Interval

Critical Value

Additional Information

Synonyms

Expected Turnaround Time