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There are currently 16 names in this directory beginning with the letter J.

JAK2 Exon 12, 13, 14 and 15 Mutation Analysis

Expected Turnaround Time 6 - 9 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 JAK2V617F Mutation Analysis, Qualitative Calreticulin (CALR) Mutation Analysis MPL Mutation Analysis Related Documents Sample Report Specimen Requirements Specimen Whole blood or bone marrow Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube, green-top (sodium heparin) tube or yellow-top (ACD) tube Collection At room temperature (18-26°C) Storage Instructions Refrigerate Causes for Rejection Specimen does not meet all of the criteria for sample type, container, minimum volume, collection and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed or otherwise visibly degraded; contamination by another specimen; specimen containing foreign material Test Details Use The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasma (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). A small percentage (~3.3%) of JAK2 mutation positive patient contain other non-V617F mutations within exons 12 to 15. Limitations In vitro studies indicate that this analysis has a mutation detection sensitivity of 15%. Mutations occurring outside of the analyzed region of the JAK2 gene will not be detected by this assay. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). Methodology Reverse transcription polymerase chain reaction RT-PCR and Sanger sequencing

JAK2V617F Mutation Analysis, Qualitative

Synonyms JAK2 V617F (Exon 14 Mutation) Janus Kinase 2V617F Mutation Detection Special Instructions Please direct any questions regarding this test to customer service at 800-345-4363. Expected Turnaround Time 5 - 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. Specimen Requirements Specimen Whole blood, bone marrow or cell pellet Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube or green-top (sodium heparin) tube Storage Instructions Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the test request form. Causes for Rejection Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material Test Details Use The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one- half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). The V617F mutation has also been detected, although infrequently, in other myeloid disorders, such as chronic myelomonocytic leukemia and chronic neutrophilic leukemia. Limitations This analysis will only detect the nucleotide change encoding the V617F mutation within JAK2. Other mutations within the JAK2 gene will not be detected by this analysis. This assay has a sensitivity of approximately 5% for the detection of cells containing the JAK2 mutation within a background of nonmutant cells. A negative result does not exclude the presence of a chronic myeloproliferative disorder or other neoplastic process. Methodology Allele-specific polymerase chain reaction (PCR); capillary electrophoresis

JAK2V617F Mutation Analysis, Qualitative, With Reflex to CALR Mutation Analysis and MPL Mutation Analysis

Test Includes This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis and MPL mutation analysis when the JAK2V617F mutation is negative. Special Instructions Please direct any questions regarding this test to customer service at 800-345-4363. 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. Related Information JAK2V617F Mutation Analysis, Qualitative Calreticulin (CALR) Mutation Analysis MPL Mutation Analysis Specimen Requirements Specimen Whole blood, bone marrow or cell pellet Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube or green-top (sodium heparin) tube Collection Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on the test request form. Storage Instructions Refrigerate. Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the test request form. Causes for Rejection Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material Test Details Use The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR) is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis. Only a minority of patients (approximately 8%) with myelodysplasia has mutations in the CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia, or solid tumors. CALR mutations are not detected in polycythemia and appear to be mutually exclusive with JAK2 mutations and MPL mutations. MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations are present in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia. Limitations This assay has a sensitivity of approximately 5% for the detection of cells containing the JAK2 mutations and CALR mutations and 10% to 20% for MPL mutations in a background of nonmutant cells. Methodology Allele-specific polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing

JAK2V617F Mutation Analysis, Qualitative, With Reflex to CALR Mutation Analysis, JAK2 Exon 12-15 Mutation Analysis and MPL Mutation Analysis

Synonyms CALR Mutation Analysis JAK2 Exon 12-15 Mutation Detection Janus Kinase 2 V617F Mutation Detection MPL Mutation Analysis Special Instructions Please direct any questions regarding this test to customer service at 800-345-4363. 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. Related Information MPL Mutation Analysis Specimen Requirements Specimen Whole blood, bone marrow or cell pellet Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube or green-top (sodium heparin) tube Collection Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on test request form. Storage Instructions Refrigerate. Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the test request form. Causes for Rejection Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material Test Details Use This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis, JAK2 exon 12 to 15 mutation analysis and MPL mutation analysis when the JAK2V617F mutation is negative. Limitations This assay has a sensitivity of approximately 1% for the detection of cells containing the JAK2 mutations and 15% for JAK2 exon 12 to 15 and 5% for CALR mutations, 10% to 20% for MPL mutations in a background of non-mutant cells. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). Methodology Polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing Additional Information The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutation with exon 12 to 15. The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR), is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis. Only a minority of patients (approximately 8%) with myelodysplasia has mutations in CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia, or solid tumors. CALR mutations are not detected in polycythemia and appear to be mutually exclusive with JAK2 mutations and MPL mutations. MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations are present in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia.

JAK2V617F Mutation Analysis, Qualitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis

Synonyms Janus Kinase 2 V617F Mutation Detection Reflex JAK2 Exon 12-15 Mutation Detection Special Instructions Please direct any questions regarding this test to customer service at 800-345-4363. Expected Turnaround Time 7 - 12 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, bone marrow or cell pellet Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube or green-top (sodium heparin) tube Collection Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on test request form. Storage Instructions Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Causes for Rejection Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material Test Details Use This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to JAK2 exon 12 to 15 mutation analysis when the JAK2V617F mutation is negative. The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET). A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutations within exons 12 to 15. Limitations The JAK2V617F assay has a sensitivity of 1% for the detection of cells containing the JAK2V617F mutation within a background of nonmutant cells. The JAK2 exon 12 to 15 assay has a mutation detection sensitivity of 15%. Methodology Taqman® real time PCR amplification/detection; Sanger sequencing

JAK2V617F Mutation Analysis, Quantitative

Special Instructions Please provide indications for JAK2 testing and specimen type. Direct any questions regarding this test to customer service at 800-345-4363. Expected Turnaround Time 5 - 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 JAK2 Exon 12 Mutation Analysis JAK2V617F Mutation Analysis, Qualitative Calreticulin (CALR) Mutation Analysis MPL Mutation Analysis Related Documents Sample Report Specimen Requirements Specimen Whole blood, bone marrow or cell pellet Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube or green-top (sodium heparin) tube Collection Submit at room temperature. Specimen should arrive at the testing laboratory within 48 hours of collection. Indicate the date and time of collection on the test request form. Storage Instructions Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Causes for Rejection Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material. Test Details Use The quantitative real-time PCR assay detects V617F mutation (c.1849 G>T) observed in approximately 95% polycythemia vera (pv), 55% essential thrombocythemia (ET), and 55% primary myelofibrosis (PMF). It is also infrequently present (3% to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken based solely on these results. Limitations This assay detects only the JAK2V617F point mutation. Other mutations that may occur in the JAK2 gene will not be detected. In vitro studies have indicated that this assay has an analytical sensitivity of 1%. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). Methodology Total genomic DNA was extracted and subjected to TaqMan® real-time PCR amplification/detection. Two amplification products per sample were monitored by real-time PCR using primers/probes specific to JAK2 wild type (WT) and JAK2 mutant V617F. The ABI7900 Absolute Quantitation software will compare the patient specimen values to the standard curves and generate percent values for wild type and mutant type. The numerical values of sample Mutant Quantity/(Sample Mutant Quantity + Sample Wild Type Quantity) X100 is reported as a percentage.

JAK2V617F Mutation Analysis, Quantitative With Reflex to CALR Mutation Analysis, JAK2 Exon 12-15 Mutation Analysis and MPL Mutation Analysis

Special Instructions Please provide indications for JAK2 testing and specimen type. Direct any questions regarding this test to customer service at 800-345-4363. 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. Related Information JAK2V617F Mutation Analysis, Qualitative JAK2V617F Mutation Analysis, Qualitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis Calreticulin (CALR) Mutation Analysis MPL Mutation Analysis Specimen Requirements Specimen Whole blood, bone marrow or cell pellet Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube or green-top (sodium heparin) tube Collection Submit at room temperature. Specimen should arrive at the testing laboratory within 48 hours of collection. Indicate the date and time of collection on test request form. Storage Instructions Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Causes for Rejection Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material Test Details Use The Quantitative Real-Time PCR assay detects V617F mutation (c.1849 G>T) observed in approximately 95% polycythemia vera (pv), 55% essential thrombocythemia (ET) and 55% primary myelofibrosis (PMF). It is also infrequently present (3 to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutations within exon 12-15. Limitations In vitro studies have indicated that this assay has an analytical sensitivity of 1% for the detection of cells containing the JAK2V617F mutation, 5% for the CALR, 15% for the JAK2 exon 12 to 15 and 10% to 20% for the MPL mutations in a background of non-mutant cells. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). Methodology Total genomic DNA was extracted and subjected to TaqMan® real-time PCR amplification/detection; polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing Additional Information The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken based solely on these results. The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR), is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis. Only a minority of patients (approximately 8%) with myelodysplasia has mutations in CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia, or solid tumors. CALR mutations are not detected in polycythemia and appear to be mutually exclusive with JAK2 mutations and MPL mutations. MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations are present in patients with primary myel ofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia.

JAK2V617F Mutation Analysis, Quantitative, With Reflex to CALR Mutation Analysis and MPL Mutation Analysis

Special Instructions Please provide indications for JAK2 testing and specimen type. Direct any questions regarding this test to customer service at 800-345-4363. 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. Related Information JAK2V617F Mutation Analysis, Qualitative Calreticulin (CALR) Mutation Analysis MPL Mutation Analysis Specimen Requirements Specimen Whole blood, bone marrow or cell pellet Volume 3 to 5 mL whole blood or 1 to 2 mL bone marrow Minimum Volume 3 mL whole blood or 1 mL bone marrow Container Lavender-top (EDTA) tube or green-top (sodium heparin) tube Collection Submit at room temperature. Specimen should arrive at the testing laboratory within 48 hours of collection. Indicate the date and time of collection on test request form. Storage Instructions Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Causes for Rejection Specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material Test Details Use The Quantitative Real-Time PCR assay detects V617F mutation (c.1849 G>T) observed in approximately 95% polycythemia vera (pv), 55% essential thrombocythemia (ET) and 55% primary myelofibrosis (PMF). It is also infrequently present (3 to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken based solely on these results. Limitations In vitro studies have indicated that this assay has an analytical sensitivity of 1% for the detection of cells containing the JAK2V617F mutation, 5% for CALR and 10% to 20% for MPL mutations in a background of non-mutant cells. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). Methodology Polymerase chain reaction (PCR); capillary electrophoresis; Sanger sequencing Additional Information The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR), is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis. Only a minority of patients (approximately 8%) with myelodysplasia has mutations in CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia, or solid tumors. CALR mutations are not detected in polycythemia and appear to be mutually exclusive with JAK2 mutations and MPL mutations. MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations are present in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia.

JAK2V617F Mutation Analysis, Quantitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis

Japanese Cedar

Synonyms Cedar, Japanese 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 Related Documents Sample Report 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®

JC Virus DNA, PCR, Cerebrospinal Fluid

Synonyms John Cunningham Virus Polyomavirus Expected Turnaround Time 4 - 5 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 Documents Sample Report Specimen Requirements Specimen Cerebrospinal fluid (CSF) Volume 0.5 mL Minimum Volume 0.2 mL Container Sterile container for CSF Storage Instructions Room temperature or refrigerated for up to 7 days. Frozen up to 90 days. Stability Requirements Temperature Period Room temperature 7 days Refrigerated 7 days Frozen 90 days Causes for Rejection Quantity not sufficient for analysis; gross specimen contamination; specimen too old; leaking or broken tube Test Details Use Aid in the diagnosis of infections caused by JC virus Methodology Real-time polymerase chain reaction (PCR)

JC Virus DNA, PCR, Urine

Expected Turnaround Time 4 - 5 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 Urine Volume 2 mL Minimum Volume 0.5 mL Container Sterile urine container, no preservative Storage Instructions Frozen (preferred) or refrigerated Stability Requirements Temperature Period Room temperature Unstable Refrigerated 7 days Frozen 14 days Causes for Rejection Quantity not sufficient for analysis; gross specimen contamination; specimen too old; leaking or broken tube Test Details Use This test is intended to be used as an aid to the diagnosis of infections caused by JC virus. Limitations This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. Methodology Real-time polymerase chain reaction (PCR)

JC Virus DNA, PCR, Whole Blood

Synonyms John Cunningham Virus Polyomavirus Expected Turnaround Time 4 - 5 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 Documents Sample Report Specimen Requirements Specimen Whole blood (EDTA) Volume 0.5 mL Minimum Volume 0.2 mL Container Lavender-top (EDTA) tube Stability Requirements Temperature Period Room temperature 7 days Refrigerated 7 days Frozen Unstable Causes for Rejection Quantity not sufficient for analysis; gross specimen contamination; specimen too old; leaking or broken tube Test Details Use Aid in the diagnosis of infections caused by JC virus Methodology Real-time polymerase chain reaction (PCR)

Jewish Ancestry Reproductive Profile

Test Includes Canavan disease, DNA analysis; cystic fibrosis profile, DNA analysis; Tay-Sachs disease, biochemical, leukocytes Special Instructions Specimens must arrive in the lab within four days of collection. A completed Cystic Fibrosis Screening Questionnaire and a Tay-Sachs Disease Screening Questionnaire must accompany specimens. (See the Genetics Appendix online.) Call 800-345-4363 to request forms, or photocopy the forms from the Genetics Appendix. Expected Turnaround Time 9 - 15 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 Canavan Disease, DNA Analysis Cystic Fibrosis (CF) Profile, 32 Mutations, DNA Analysis Tay-Sachs Disease, Biochemical, Leukocytes Related Documents For more information, please view the literature below. CFTR-Related Disorders: CF and CBAVD Full Gene Sequencing Specimen Requirements Specimen Whole blood Volume 8 mL EDTA whole blood and 10 mL ACD whole blood Minimum Volume 4 mL EDTA whole blood and 5 mL ACD whole blood Container Lavender-top (EDTA) tube and yellow-top (ACD) tube Collection Refrigerate yellow-top (ACD) tube after collection. Transport to testing facility using cool pack or LabCorp transport kit. Do not allow specimen to freeze. Sample in yellow-top (ACD) must arrive in the laboratory within four days of collection. Storage Instructions Refrigerate yellow-top tube. Maintain lavender-top tube at room temperature. Stability Requirements Temperature Period Refrigerated 4 days Causes for Rejection Frozen specimen; hemolysis; quantity not sufficient for analysis; yellow-top (ACD) tube not received within four days of collection; improper container Test Details Use Identification of carriers for Jewish heritage diseases, specifically Canavan disease,1,2 cystic fibrosis,3,4 and Tay-Sachs disease.5 See Related Information for individual components of this profile. Limitations This test is not appropriate for non-Ashkenazi Jewish individuals. This assay may not detect patients or carriers of rare variants of Tay-Sachs disease such as the B-1 variant or the activator protein deficiency. Methodology Polymerase chain reaction (PCR) and oligonucleotide ligation (assay), and primer extension with flow-sorted bead array analysis; determination of beta-hexosaminidase A and B activity using heat inactivation Footnotes 1. American College of Medical Genetics. Position Statement on Carrier Testing for Canavan Disease. Bethesda, Md: ACMG; January 10, 1998. 2. American College of Obstetricians and Gynecologists. Screening for Canavan Disease. Technical Bulletin 212. Washington, DC: ACOG; November 1998. 3. Grody WW, Cutting GR, Klinger KW, et al. (Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG). Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001 Mar-Apr; 3(2):149-154. PubMed 11280952 4. American College of Obstetricians and Gynecologists. Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington, DC: ACOG; October 2001. 5. American College of Obstetricians and Gynecologists. Screening for Tay-Sachs Disease. Washington, DC: ACOG; November 1995.

Johnson Grass

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 Related Documents Sample Report 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®

Joubert Syndrome Type II, DNA Analysis

Synonyms Jewish Heritage Test TMEM216 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 - 15 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 Detect the presence of the R12L mutation (also called R73L) in the TMEM216 gene. Methodology Polymerase chain reaction (PCR) and primer extension Additional Information Joubert syndrome type II (JBTS2, OMIM 608091) is an inherited, autosomal recessive early-onset disorder characterized by the absence or underdeveloped cerebellar vermis-an area of the brain that controls balance and coördination. This "molar tooth sign" can be seen on midbrain MRI. Common clinical findings in infants are abnormal rapid breathing, hypotonia, oculomotor apraxia/nystagmus, mental retardation, and an inability to coordinate voluntary muscle movements. Other findings include polydactyly, low-set ears, small genitalia, high-arched palate, and hepatic fibrosis. The disease has an elevated prevalence in the Ashkenazi Jewish population, with a carrier rate of 1 in 92. When both parents are carriers of JBTS2, there is a 25% chance with each pregnancy of having a child with the disease. Prenatal diagnosis is available. Molecular genetic testing for JBTS2 encompasses one mutation in the TMEM216 gene (11q13). Testing for the R12L (also called R73L) mutation identifies approximately greater than 99% of JBTS2 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 this person 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 the clinical information for the most accurate interpretation.

Common Lab Tests

Complete Blood Count

This test, also known as a CBC, is the most common blood test performed. It measures the types and numbers of cells in the blood, including red and white blood cells and platelets. This test is used to determine general health status, screen for disorders and evaluate nutritional status. It can help evaluate symptoms such as weakness, fatigue and bruising, and can help diagnose conditions such as anemia, leukemia, malaria and infection.

Prothrombin Time

Also known as PT and Pro Time, this test measures how long it takes blood to clot. This coagulation test measures the presence and activity of five different blood clotting factors. This test can screen for bleeding abnormalities, and may also be used to monitor medication treatments that prevent the formation of blood clots.

Basic Metabolic Panel

This test measures glucose, sodium, potassium, calcium, chloride, carbon dioxide, blood urea nitrogen and creatinine which can help determine blood sugar level, electrolyte and fluid balance as well as kidney function. The Basic Metabolic Panel can help your doctor monitor the effects of medications you are taking, such as high blood pressure medicines, can help diagnose certain conditions, or can be part of a routine health screening. You may need to fast for up to 12 hours before this test.

Lipid

Panel

The lipid panel is a group of tests used to evaluate cardiac risk. It includes cholesterol and triglyceride levels.

Liver Panel

The liver panel is a combination of tests used to assess liver function and establish the possible presence of liver tumors.

Hemoglobin A1C

This test is used to diagnose and monitor diabetes.

Urinalysis

Often the first lab test performed, this is a general screening test used to check for early signs of disease. It may also be used to monitor diabetes or kidney disease.

Cultures

Cultures are used to test for diagnosis and treatment of infections. Illnesses such as urinary tract infections, pneumonia, strep throat, MRSA and meningitis can be detected and tested for appropriate antibiotic treatment.

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