Special Collection

Liquid tumor sample must contain a minimum of 20% disease content for SNV, 60% disease content for CNV

Tumor sample must contain a minimum of 20% tumor for SNV, 60% tumor for CNV

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Snap-frozen) Tissue cassette 50 mg Preferred
Tissue (Snap-frozen) Cryogenic tube 50 mg Alternate
Tissue scrolls (FFPE) Sterile container 10-15 scrolls Preferred
Tissue slides (FFPE) Slides 10-15 slides Preferred
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Bone marrow 4 mL Purple tube (EDTA) 4 mL Preferred
Buccal swab Buccal swab kit 4 swabs Preferred
OCT-embedded tissue Tissue cassette 50 mg Preferred
OCT-embedded tissue Cryogenic tube 50 mg Alternate
Paraffin embedded tissue Paraffin block 1 block Preferred
Saliva Oragene saliva collection tube 2 tubes Preferred
Tissue (Fresh) Tissue culture transport media 50 mg Preferred
Tissue (Fresh) Sterile container with saline 50 mg Alternate

Outpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

Unacceptable Conditions

Wrong type of specimen, Inadequate tissue, Clotted specimen, Insufficient tumor content in tumor sample, Wrong collection tube, FFPE specimens processed using strong acid decalcification are not acceptable; EDTA and Formical are accepted.

Stability

Tissue (Snap-frozen): Frozen 36 month(s)

Tissue scrolls (FFPE): Room temperature 12 month(s)

Whole blood: Room temperature 3 day(s)
Whole blood: Refrigerated 7 day(s) 

Bone marrow: Room temperature 3 day(s)
Bone marrow: Refrigerated 7 day(s)

Buccal swab: Room temperature 7 day(s)
Buccal swab: Refrigerated 7 day(s)

OCT-embedded tissue: Frozen 36 month(s)

Paraffin embedded tissue: Room temperature 12 month(s)

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Refrigerated 3 day(s)
Tissue (Fresh): Room temperature 4 hour(s)

Remarks

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

Next Generation Sequencing (NGS)

CPT Codes

81415, 81416

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome

Special Collection

Liquid tumor sample must contain a minimum of 20% disease content for SNV, 60% disease content for CNV

Tumor sample must contain a minimum of 20% tumor for SNV, 60% tumor for CNV

Inpatient Submit with Specimen

If SDGC oncology test is requested, snap-frozen tissue is preferred; if SDGC non-oncology test is requested (i.e. vascular lesions), FFPE tissue is preferred.

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Snap-frozen) Tissue cassette 50 mg Preferred
Tissue (Snap-frozen) Cryogenic tube 50 mg Alternate
Tissue scrolls (FFPE) Sterile container 10-15 scrolls Preferred
Tissue slides (FFPE) Slides 10-15 slides Preferred
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Bone marrow 4 mL Purple tube (EDTA) 4 mL Preferred
Buccal swab Buccal swab kit 4 swabs Preferred
OCT-embedded tissue Tissue cassette 50 mg Preferred
OCT-embedded tissue Cryogenic tube 50 mg Alternate
Paraffin embedded tissue Paraffin block 1 block Preferred
Saliva Oragene saliva collection tube 2 tubes Preferred
Tissue (Fresh) Tissue culture transport media 50 mg Preferred
Tissue (Fresh) Sterile container with saline 50 mg Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Snap-frozen) Tissue cassette 30 mg
Tissue (Snap-frozen) Cryogenic tube 30 mg
Tissue scrolls (FFPE) Sterile container 5-10 microns thick
Tissue slides (FFPE) Slides 5-10 microns thick
Whole blood 4 mL Purple tube (EDTA) 1 mL
Bone marrow 4 mL Purple tube (EDTA) 1 mL
Buccal swab Buccal swab kit 2 swabs
OCT-embedded tissue Tissue cassette 30 mg
OCT-embedded tissue Cryogenic tube 30 mg
Paraffin embedded tissue Paraffin block 1 block
Saliva Oragene saliva collection tube 1 tube
Tissue (Fresh) Tissue culture transport media 30 mg
Tissue (Fresh) Sterile container with saline 30 mg

Inpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

Unacceptable Conditions

Wrong type of specimen, Inadequate tissue, Clotted specimen, Insufficient tumor content in tumor sample, Wrong collection tube, FFPE specimens processed using strong acid decalcification are not acceptable; EDTA and Formical are accepted.

Stability

Tissue (Snap-frozen): Frozen 36 month(s)

Tissue scrolls (FFPE): Room temperature 12 month(s)

Whole blood: Room temperature 3 day(s)
Whole blood: Refrigerated 7 day(s) 

Bone marrow: Room temperature 3 day(s)
Bone marrow: Refrigerated 7 day(s)

Buccal swab: Room temperature 7 day(s)
Buccal swab: Refrigerated 7 day(s)

OCT-embedded tissue: Frozen 36 month(s)

Paraffin embedded tissue: Room temperature 12 month(s)

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Refrigerated 3 day(s)
Tissue (Fresh): Room temperature 4 hour(s)

Remarks

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81415, 81416

Lab Area

Institute for Genomic Medicine

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome

Estimated Patient Price

> $5000

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome

CPT Codes

81415, 81416

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Methodology

Next Generation Sequencing (NGS)

Special Collection

Liquid tumor sample must contain a minimum of 20% disease content for SNV, 60% disease content for CNV

Tumor sample must contain a minimum of 20% tumor for SNV, 60% tumor for CNV

Inpatient Submit with Specimen

If SDGC oncology test is requested, snap-frozen tissue is preferred; if SDGC non-oncology test is requested (i.e. vascular lesions), FFPE tissue is preferred.

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Snap-frozen) Tissue cassette 50 mg Preferred
Tissue (Snap-frozen) Cryogenic tube 50 mg Alternate
Tissue scrolls (FFPE) Sterile container 10-15 scrolls Preferred
Tissue slides (FFPE) Slides 10-15 slides Preferred
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Bone marrow 4 mL Purple tube (EDTA) 4 mL Preferred
Buccal swab Buccal swab kit 4 swabs Preferred
OCT-embedded tissue Tissue cassette 50 mg Preferred
OCT-embedded tissue Cryogenic tube 50 mg Alternate
Paraffin embedded tissue Paraffin block 1 block Preferred
Saliva Oragene saliva collection tube 2 tubes Preferred
Tissue (Fresh) Tissue culture transport media 50 mg Preferred
Tissue (Fresh) Sterile container with saline 50 mg Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Snap-frozen) Tissue cassette 30 mg
Tissue (Snap-frozen) Cryogenic tube 30 mg
Tissue scrolls (FFPE) Sterile container 5-10 microns thick
Tissue slides (FFPE) Slides 5-10 microns thick
Whole blood 4 mL Purple tube (EDTA) 1 mL
Bone marrow 4 mL Purple tube (EDTA) 1 mL
Buccal swab Buccal swab kit 2 swabs
OCT-embedded tissue Tissue cassette 30 mg
OCT-embedded tissue Cryogenic tube 30 mg
Paraffin embedded tissue Paraffin block 1 block
Saliva Oragene saliva collection tube 1 tube
Tissue (Fresh) Tissue culture transport media 30 mg
Tissue (Fresh) Sterile container with saline 30 mg

Inpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

Outpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

InLab Processing

Send to the Institute for Genomic Medicine Lab with all submitted paperwork. CPA needs to order GENSP in Sunquest for Non-EPIC lab order. For Saliva sample and Buccal Swab sample, families can collect sample at home and can mail in the sample and lab order to CPA or drop off the sample with a copy of the lab order at an NCH lab location to be forwarded to CPA.

Stability

Tissue (Snap-frozen): Frozen 36 month(s)

Tissue scrolls (FFPE): Room temperature 12 month(s)

Whole blood: Room temperature 3 day(s)
Whole blood: Refrigerated 7 day(s) 

Bone marrow: Room temperature 3 day(s)
Bone marrow: Refrigerated 7 day(s)

Buccal swab: Room temperature 7 day(s)
Buccal swab: Refrigerated 7 day(s)

OCT-embedded tissue: Frozen 36 month(s)

Paraffin embedded tissue: Room temperature 12 month(s)

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Refrigerated 3 day(s)
Tissue (Fresh): Room temperature 4 hour(s)

Unacceptable Conditions

Wrong type of specimen, Inadequate tissue, Clotted specimen, Insufficient tumor content in tumor sample, Wrong collection tube, FFPE specimens processed using strong acid decalcification are not acceptable; EDTA and Formical are accepted.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome

Methodology

Next Generation Sequencing (NGS)

CPT Codes

81415, 81416

Estimated Patient Price

> $5000

DC Code

5321

Downtime Availability

4-Not available
Outpatient Requirements

Special Collection

Liquid tumor sample must contain a minimum of 20% disease content for SNV, 60% disease content for CNV

Tumor sample must contain a minimum of 20% tumor for SNV, 60% tumor for CNV

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Snap-frozen) Tissue cassette 50 mg Preferred
Tissue (Snap-frozen) Cryogenic tube 50 mg Alternate
Tissue scrolls (FFPE) Sterile container 10-15 scrolls Preferred
Tissue slides (FFPE) Slides 10-15 slides Preferred
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Bone marrow 4 mL Purple tube (EDTA) 4 mL Preferred
Buccal swab Buccal swab kit 4 swabs Preferred
OCT-embedded tissue Tissue cassette 50 mg Preferred
OCT-embedded tissue Cryogenic tube 50 mg Alternate
Paraffin embedded tissue Paraffin block 1 block Preferred
Saliva Oragene saliva collection tube 2 tubes Preferred
Tissue (Fresh) Tissue culture transport media 50 mg Preferred
Tissue (Fresh) Sterile container with saline 50 mg Alternate

Outpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

Unacceptable Conditions

Wrong type of specimen, Inadequate tissue, Clotted specimen, Insufficient tumor content in tumor sample, Wrong collection tube, FFPE specimens processed using strong acid decalcification are not acceptable; EDTA and Formical are accepted.

Stability

Tissue (Snap-frozen): Frozen 36 month(s)

Tissue scrolls (FFPE): Room temperature 12 month(s)

Whole blood: Room temperature 3 day(s)
Whole blood: Refrigerated 7 day(s) 

Bone marrow: Room temperature 3 day(s)
Bone marrow: Refrigerated 7 day(s)

Buccal swab: Room temperature 7 day(s)
Buccal swab: Refrigerated 7 day(s)

OCT-embedded tissue: Frozen 36 month(s)

Paraffin embedded tissue: Room temperature 12 month(s)

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Refrigerated 3 day(s)
Tissue (Fresh): Room temperature 4 hour(s)

Remarks

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

Next Generation Sequencing (NGS)

CPT Codes

81415, 81416

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome
Inpatient Requirements

Special Collection

Liquid tumor sample must contain a minimum of 20% disease content for SNV, 60% disease content for CNV

Tumor sample must contain a minimum of 20% tumor for SNV, 60% tumor for CNV

Inpatient Submit with Specimen

If SDGC oncology test is requested, snap-frozen tissue is preferred; if SDGC non-oncology test is requested (i.e. vascular lesions), FFPE tissue is preferred.

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Snap-frozen) Tissue cassette 50 mg Preferred
Tissue (Snap-frozen) Cryogenic tube 50 mg Alternate
Tissue scrolls (FFPE) Sterile container 10-15 scrolls Preferred
Tissue slides (FFPE) Slides 10-15 slides Preferred
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Bone marrow 4 mL Purple tube (EDTA) 4 mL Preferred
Buccal swab Buccal swab kit 4 swabs Preferred
OCT-embedded tissue Tissue cassette 50 mg Preferred
OCT-embedded tissue Cryogenic tube 50 mg Alternate
Paraffin embedded tissue Paraffin block 1 block Preferred
Saliva Oragene saliva collection tube 2 tubes Preferred
Tissue (Fresh) Tissue culture transport media 50 mg Preferred
Tissue (Fresh) Sterile container with saline 50 mg Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Snap-frozen) Tissue cassette 30 mg
Tissue (Snap-frozen) Cryogenic tube 30 mg
Tissue scrolls (FFPE) Sterile container 5-10 microns thick
Tissue slides (FFPE) Slides 5-10 microns thick
Whole blood 4 mL Purple tube (EDTA) 1 mL
Bone marrow 4 mL Purple tube (EDTA) 1 mL
Buccal swab Buccal swab kit 2 swabs
OCT-embedded tissue Tissue cassette 30 mg
OCT-embedded tissue Cryogenic tube 30 mg
Paraffin embedded tissue Paraffin block 1 block
Saliva Oragene saliva collection tube 1 tube
Tissue (Fresh) Tissue culture transport media 30 mg
Tissue (Fresh) Sterile container with saline 30 mg

Inpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

Unacceptable Conditions

Wrong type of specimen, Inadequate tissue, Clotted specimen, Insufficient tumor content in tumor sample, Wrong collection tube, FFPE specimens processed using strong acid decalcification are not acceptable; EDTA and Formical are accepted.

Stability

Tissue (Snap-frozen): Frozen 36 month(s)

Tissue scrolls (FFPE): Room temperature 12 month(s)

Whole blood: Room temperature 3 day(s)
Whole blood: Refrigerated 7 day(s) 

Bone marrow: Room temperature 3 day(s)
Bone marrow: Refrigerated 7 day(s)

Buccal swab: Room temperature 7 day(s)
Buccal swab: Refrigerated 7 day(s)

OCT-embedded tissue: Frozen 36 month(s)

Paraffin embedded tissue: Room temperature 12 month(s)

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Refrigerated 3 day(s)
Tissue (Fresh): Room temperature 4 hour(s)

Remarks

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81415, 81416

Lab Area

Institute for Genomic Medicine

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome

Estimated Patient Price

> $5000
Overview/Billing

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome

CPT Codes

81415, 81416
Interpretation

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Methodology

Next Generation Sequencing (NGS)
NCH Lab Only

Special Collection

Liquid tumor sample must contain a minimum of 20% disease content for SNV, 60% disease content for CNV

Tumor sample must contain a minimum of 20% tumor for SNV, 60% tumor for CNV

Inpatient Submit with Specimen

If SDGC oncology test is requested, snap-frozen tissue is preferred; if SDGC non-oncology test is requested (i.e. vascular lesions), FFPE tissue is preferred.

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Snap-frozen) Tissue cassette 50 mg Preferred
Tissue (Snap-frozen) Cryogenic tube 50 mg Alternate
Tissue scrolls (FFPE) Sterile container 10-15 scrolls Preferred
Tissue slides (FFPE) Slides 10-15 slides Preferred
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Bone marrow 4 mL Purple tube (EDTA) 4 mL Preferred
Buccal swab Buccal swab kit 4 swabs Preferred
OCT-embedded tissue Tissue cassette 50 mg Preferred
OCT-embedded tissue Cryogenic tube 50 mg Alternate
Paraffin embedded tissue Paraffin block 1 block Preferred
Saliva Oragene saliva collection tube 2 tubes Preferred
Tissue (Fresh) Tissue culture transport media 50 mg Preferred
Tissue (Fresh) Sterile container with saline 50 mg Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Snap-frozen) Tissue cassette 30 mg
Tissue (Snap-frozen) Cryogenic tube 30 mg
Tissue scrolls (FFPE) Sterile container 5-10 microns thick
Tissue slides (FFPE) Slides 5-10 microns thick
Whole blood 4 mL Purple tube (EDTA) 1 mL
Bone marrow 4 mL Purple tube (EDTA) 1 mL
Buccal swab Buccal swab kit 2 swabs
OCT-embedded tissue Tissue cassette 30 mg
OCT-embedded tissue Cryogenic tube 30 mg
Paraffin embedded tissue Paraffin block 1 block
Saliva Oragene saliva collection tube 1 tube
Tissue (Fresh) Tissue culture transport media 30 mg
Tissue (Fresh) Sterile container with saline 30 mg

Inpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

Outpatient Specimen Preparation

Tissue (Snap-frozen): Freeze immediately after collection
                                    Transport to laboratory as soon as possible

Tissue scrolls and Tissue Slides (FFPE): Must accompany H&E slide from adjacent section
                                         Protect from heat, Keep at room temperature

Whole blood: Keep at room temperature or refrigerate 

Bone marrow: Do not add fixative
                       Transport to laboratory as soon as possible
                        Keep at room temperature or refrigerate
                       
Buccal swab: Keep at room temperature or refrigerate

OCT-embedded tissue: Freeze immediately after collection
                                     Transport to laboratory as soon as possible

Paraffin embedded tissue: Keep at room temperature
                                           Protect from heat

Saliva: Keep at room temperature

Tissue (Fresh): Do not add fixative
                         Do not formalin fix the sample
                         Transport to laboratory as soon as possible
                         Keep at room temperature or refrigerate
 

InLab Processing

Send to the Institute for Genomic Medicine Lab with all submitted paperwork. CPA needs to order GENSP in Sunquest for Non-EPIC lab order. For Saliva sample and Buccal Swab sample, families can collect sample at home and can mail in the sample and lab order to CPA or drop off the sample with a copy of the lab order at an NCH lab location to be forwarded to CPA.

Stability

Tissue (Snap-frozen): Frozen 36 month(s)

Tissue scrolls (FFPE): Room temperature 12 month(s)

Whole blood: Room temperature 3 day(s)
Whole blood: Refrigerated 7 day(s) 

Bone marrow: Room temperature 3 day(s)
Bone marrow: Refrigerated 7 day(s)

Buccal swab: Room temperature 7 day(s)
Buccal swab: Refrigerated 7 day(s)

OCT-embedded tissue: Frozen 36 month(s)

Paraffin embedded tissue: Room temperature 12 month(s)

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Refrigerated 3 day(s)
Tissue (Fresh): Room temperature 4 hour(s)

Unacceptable Conditions

Wrong type of specimen, Inadequate tissue, Clotted specimen, Insufficient tumor content in tumor sample, Wrong collection tube, FFPE specimens processed using strong acid decalcification are not acceptable; EDTA and Formical are accepted.

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

This test requires submission of both a disease-involved sample (somatic sample) and non-disease-involved sample (germline comparator sample) from the patient. For malignant conditions, the disease-involved sample must contain a minimum of 20% tumor or disease content for single-nucleotide and small insertion-deletion variant resolution, and 60% tumor or disease content for sensitive resolution of copy number variation (CNV) and loss of heterozygosity (LOH) to enable interpretation and reporting. Sensitivity in calling CNV and LOH will be limited, and at times, assay resolution of these events will preclude interpretation and reporting of CNV and LOH, if the submitted specimen contains less than 60% disease-content. 

If submitting a tissue scroll or slide specimen, please submit 10-15 FFPE scrolls or slides (5-10 microns thick) and an adjacent H&E slide, or use this Tissue Scroll Calculator tool to determine the thickness and number of tissue scrolls to send to the laboratory.

For questions, please call the NCH Institute for Genomic Medicine (IGM) Clinical Laboratory at (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This test is intended for a patient with known or suspected cancer, hematologic disease, or somatic disorders (e.g. somatic overgrowth, vascular malformation, or other mosaic disease). Genomic characterization of a tumor or disease-involved tissue can aid in diagnosis, prognosis, and medical management, such as making treatment decisions and evaluating eligibility for targeted therapies and clinical trials. This test can also identify germline disease predisposition. 

This test consists of paired exome sequencing analysis on both disease-involved and non-disease involved samples.  See attached list of germline and somatic genes reviewed during interpretation. In addition, CNV, LOH and small variants/indels will be reported if identified.

The presence of pathogenic variant(s) confined to disease-involved tissue(s) can be found in malignancies/somatic diseases, and these variants are described as somatic in origin. Sometimes, a pathogenic variant is also detected in the patient’s germline sample, which indicates that the variant is germline in origin and occurs throughout all cells in the body.  Germline variants can be associated with hereditary predisposition to disease.

Synonyms

  • Tumor Normal Exome, Tumor Normal WES, Tumor-Normal Exome, Tumor-Normal WES, Somatic Germline Paired Exome, Somatic Germline Paired WES, Tumor Normal Paired Exome, Tumor-Normal Paired Exome, Exome Sequencing, Cancer Exome, Oncology Exome, Tumor Exome, Somatic Exome, IGM Test, Comparator Exome

Methodology

Next Generation Sequencing (NGS)

CPT Codes

81415, 81416

Estimated Patient Price

> $5000

DC Code

5321

Downtime Availability

4-Not available

Lab Area

Lab Area
Institute for Genomic Medicine

New York DOH Approval Status

New York DOH Approval Status
This test is New York state approved