Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Saliva Oragene saliva collection tube 2 tubes Alternate
Buccal swab Buccal swab kit 4 swabs Alternate
Cord blood 4 mL Purple tube (EDTA) 2 mL-4 mL Alternate
Amniotic fluid Sterile container 20 mL-30 mL Alternate
Tissue (Fresh) Tissue culture transport media 5mm x 5mm or larger Alternate
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm or larger Alternate
Tissue (Fresh) Sterile container with saline 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm or larger Alternate

Container Image

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible


 

Unacceptable Conditions

Wrong collection tube, Clotted specimen

Stability

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

Amniotic fluid: Room temperature 48 hour(s)

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

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

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 12 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

  • If a proband was tested at Nationwide Children's Hospital Institute for Genomic Medicine (IGM), please provide the proband name, date of birth, and accession number (if available) on the Test Requisition Form or Test Order.
  • If a proband was tested by an outside clinical/research laboratory, please submit a copy of the proband's original test report containing the mutation and gene transcript information. In addition, submission of a positive control sample such as proband blood or DNA sample would be required for this testing (DNA must be extracted in the CAP/CLIA-certified laboratory).
  • If testing is on cord blood or amniotic fluid, a maternal blood sample is required for Maternal Cell Contamination (MCC) studies.
  • Prenatal testing will only be performed on pathogenic or likely pathogenic variants previously identified on a family member tested at IGM.

Although blood sample is the preferred sample type, saliva sample and buccal swab sample are also accepted for this test. For any questions, please call (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

DNA extraction, Polymerase chain reaction (PCR), Sanger sequencing

CPT Codes

81403

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Saliva Oragene saliva collection tube 2 tubes Alternate
Buccal swab Buccal swab kit 4 swabs Alternate
Cord blood 4 mL Purple tube (EDTA) 2 mL-4 mL Alternate
Amniotic fluid Sterile container 20 mL-30 mL Alternate
Tissue (Fresh) Tissue culture transport media 5mm x 5mm or larger Alternate
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm or larger Alternate
Tissue (Fresh) Sterile container with saline 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm or larger Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 2 mL
Saliva Oragene saliva collection tube 1 tube
Buccal swab Buccal swab kit 1 swab
Cord blood 4 mL Purple tube (EDTA) 1 mL
Amniotic fluid Sterile container 5 mL
Tissue (Fresh) Tissue culture transport media 5mm x 5mm
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm
Tissue (Fresh) Sterile container with saline 5mm x 5mm
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible

 

Unacceptable Conditions

Wrong collection tube, Clotted specimen

Stability

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

Amniotic fluid: Room temperature 48 hour(s)

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

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

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 12 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

  • If a proband was tested at Nationwide Children's Hospital Institute for Genomic Medicine (IGM), please provide the proband name, date of birth, and accession number (if available) on the Test Requisition Form or Test Order.
  • If a proband was tested by an outside clinical/research laboratory, please submit a copy of the proband's original test report containing the mutation and gene transcript information. In addition, submission of a positive control sample such as proband blood or DNA sample would be required for this testing (DNA must be extracted in the CAP/CLIA-certified laboratory).
  • If testing is on cord blood or amniotic fluid, a maternal blood sample is required for Maternal Cell Contamination (MCC) studies.
  • Prenatal testing will only be performed on pathogenic or likely pathogenic variants previously identified on a family member tested at IGM.

Although blood sample is the preferred sample type, saliva sample and buccal swab sample are also accepted for this test. For any questions, please call (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81403

Lab Area

Institute for Genomic Medicine

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test

Estimated Patient Price

< $1,000

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test

CPT Codes

81403

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Methodology

DNA extraction, Polymerase chain reaction (PCR), Sanger sequencing

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Saliva Oragene saliva collection tube 2 tubes Alternate
Buccal swab Buccal swab kit 4 swabs Alternate
Cord blood 4 mL Purple tube (EDTA) 2 mL-4 mL Alternate
Amniotic fluid Sterile container 20 mL-30 mL Alternate
Tissue (Fresh) Tissue culture transport media 5mm x 5mm or larger Alternate
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm or larger Alternate
Tissue (Fresh) Sterile container with saline 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm or larger Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 2 mL
Saliva Oragene saliva collection tube 1 tube
Buccal swab Buccal swab kit 1 swab
Cord blood 4 mL Purple tube (EDTA) 1 mL
Amniotic fluid Sterile container 5 mL
Tissue (Fresh) Tissue culture transport media 5mm x 5mm
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm
Tissue (Fresh) Sterile container with saline 5mm x 5mm
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible

 

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible


 

InLab Processing

Send to Molecular Genetics 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 and lab order at a NCH lab location to be forwarded to CPA.

Stability

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

Amniotic fluid: Room temperature 48 hour(s)

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

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

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 12 month(s)

 

Unacceptable Conditions

Wrong collection tube, Clotted specimen

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

  • If a proband was tested at Nationwide Children's Hospital Institute for Genomic Medicine (IGM), please provide the proband name, date of birth, and accession number (if available) on the Test Requisition Form or Test Order.
  • If a proband was tested by an outside clinical/research laboratory, please submit a copy of the proband's original test report containing the mutation and gene transcript information. In addition, submission of a positive control sample such as proband blood or DNA sample would be required for this testing (DNA must be extracted in the CAP/CLIA-certified laboratory).
  • If testing is on cord blood or amniotic fluid, a maternal blood sample is required for Maternal Cell Contamination (MCC) studies.
  • Prenatal testing will only be performed on pathogenic or likely pathogenic variants previously identified on a family member tested at IGM.

Although blood sample is the preferred sample type, saliva sample and buccal swab sample are also accepted for this test. For any questions, please call (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test

Methodology

DNA extraction, Polymerase chain reaction (PCR), Sanger sequencing

CPT Codes

81403

Estimated Patient Price

< $1,000

DC Code

5321

Downtime Availability

4-Not available
Outpatient Requirements

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Saliva Oragene saliva collection tube 2 tubes Alternate
Buccal swab Buccal swab kit 4 swabs Alternate
Cord blood 4 mL Purple tube (EDTA) 2 mL-4 mL Alternate
Amniotic fluid Sterile container 20 mL-30 mL Alternate
Tissue (Fresh) Tissue culture transport media 5mm x 5mm or larger Alternate
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm or larger Alternate
Tissue (Fresh) Sterile container with saline 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm or larger Alternate

Container Image

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible


 

Unacceptable Conditions

Wrong collection tube, Clotted specimen

Stability

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

Amniotic fluid: Room temperature 48 hour(s)

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

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

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 12 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

  • If a proband was tested at Nationwide Children's Hospital Institute for Genomic Medicine (IGM), please provide the proband name, date of birth, and accession number (if available) on the Test Requisition Form or Test Order.
  • If a proband was tested by an outside clinical/research laboratory, please submit a copy of the proband's original test report containing the mutation and gene transcript information. In addition, submission of a positive control sample such as proband blood or DNA sample would be required for this testing (DNA must be extracted in the CAP/CLIA-certified laboratory).
  • If testing is on cord blood or amniotic fluid, a maternal blood sample is required for Maternal Cell Contamination (MCC) studies.
  • Prenatal testing will only be performed on pathogenic or likely pathogenic variants previously identified on a family member tested at IGM.

Although blood sample is the preferred sample type, saliva sample and buccal swab sample are also accepted for this test. For any questions, please call (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

DNA extraction, Polymerase chain reaction (PCR), Sanger sequencing

CPT Codes

81403

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test
Inpatient Requirements

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Saliva Oragene saliva collection tube 2 tubes Alternate
Buccal swab Buccal swab kit 4 swabs Alternate
Cord blood 4 mL Purple tube (EDTA) 2 mL-4 mL Alternate
Amniotic fluid Sterile container 20 mL-30 mL Alternate
Tissue (Fresh) Tissue culture transport media 5mm x 5mm or larger Alternate
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm or larger Alternate
Tissue (Fresh) Sterile container with saline 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm or larger Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 2 mL
Saliva Oragene saliva collection tube 1 tube
Buccal swab Buccal swab kit 1 swab
Cord blood 4 mL Purple tube (EDTA) 1 mL
Amniotic fluid Sterile container 5 mL
Tissue (Fresh) Tissue culture transport media 5mm x 5mm
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm
Tissue (Fresh) Sterile container with saline 5mm x 5mm
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible

 

Unacceptable Conditions

Wrong collection tube, Clotted specimen

Stability

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

Amniotic fluid: Room temperature 48 hour(s)

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

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

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 12 month(s)

 

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

  • If a proband was tested at Nationwide Children's Hospital Institute for Genomic Medicine (IGM), please provide the proband name, date of birth, and accession number (if available) on the Test Requisition Form or Test Order.
  • If a proband was tested by an outside clinical/research laboratory, please submit a copy of the proband's original test report containing the mutation and gene transcript information. In addition, submission of a positive control sample such as proband blood or DNA sample would be required for this testing (DNA must be extracted in the CAP/CLIA-certified laboratory).
  • If testing is on cord blood or amniotic fluid, a maternal blood sample is required for Maternal Cell Contamination (MCC) studies.
  • Prenatal testing will only be performed on pathogenic or likely pathogenic variants previously identified on a family member tested at IGM.

Although blood sample is the preferred sample type, saliva sample and buccal swab sample are also accepted for this test. For any questions, please call (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81403

Lab Area

Institute for Genomic Medicine

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test

Estimated Patient Price

< $1,000
Overview/Billing

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test

CPT Codes

81403
Interpretation

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Methodology

DNA extraction, Polymerase chain reaction (PCR), Sanger sequencing
NCH Lab Only

Outpatient Submit with Specimen

Collect

Specimen Type Type of Container Volume of Specimen Status
Whole blood 4 mL Purple tube (EDTA) 4 mL Preferred
Saliva Oragene saliva collection tube 2 tubes Alternate
Buccal swab Buccal swab kit 4 swabs Alternate
Cord blood 4 mL Purple tube (EDTA) 2 mL-4 mL Alternate
Amniotic fluid Sterile container 20 mL-30 mL Alternate
Tissue (Fresh) Tissue culture transport media 5mm x 5mm or larger Alternate
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm or larger Alternate
Tissue (Fresh) Sterile container with saline 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm or larger Alternate
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm or larger Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Whole blood 4 mL Purple tube (EDTA) 2 mL
Saliva Oragene saliva collection tube 1 tube
Buccal swab Buccal swab kit 1 swab
Cord blood 4 mL Purple tube (EDTA) 1 mL
Amniotic fluid Sterile container 5 mL
Tissue (Fresh) Tissue culture transport media 5mm x 5mm
Tissue (Fresh) Ringer's lactate solution in sterile container 5mm x 5mm
Tissue (Fresh) Sterile container with saline 5mm x 5mm
Tissue (Snap-frozen) Tissue cassette 5mm x 5mm
Tissue (Snap-frozen) Cryogenic tube 5mm x 5mm

Container Image

Inpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible

 

Outpatient Specimen Preparation

Whole blood: Do not centrifuge
                      Do not freeze
                      Keep at room temperature or refrigerate

Amniotic fluid: Transport to laboratory as soon as possible
                        Keep at room temperature
                        Do not freeze
                        Do not add fixative
                        Do not centrifuge

Buccal swab: Keep at room temperature or refrigerate

Cord blood: Do not freeze
                    Do not centrifuge
                    Keep at room temperature or refrigerate

Saliva: Keep at room temperature

Tissue (Fresh): Transport to laboratory as soon as possible
                          Keep at room temperature or refrigerate
                          Do not add fixative
                          Wrap specimen container tightly with parafilm

Tissue (Snap-frozen): Freeze immediately after collection.
                                    Keep frozen
                                    Protect from heat
                                    Transport to laboratory as soon as possible


 

InLab Processing

Send to Molecular Genetics 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 and lab order at a NCH lab location to be forwarded to CPA.

Stability

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

Amniotic fluid: Room temperature 48 hour(s)

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

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

Saliva: Room temperature 6 month(s)

Tissue (Fresh): Room temperature 24 hour(s)
Tissue (Fresh): Refrigerated 72 hour(s)

Tissue (Snap-frozen): Frozen 12 month(s)

 

Unacceptable Conditions

Wrong collection tube, Clotted specimen

Days Performed

Monday through Saturday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

If you are an external healthcare provider with no access to Nationwide Children’s Epic system, submission of a completed Genetic Test Requisition Form is required. If you are an internal ordering provider with access to Nationwide Children’s Epic system, no requisition form is required; please place the lab order electronically in Epic.  

  • If a proband was tested at Nationwide Children's Hospital Institute for Genomic Medicine (IGM), please provide the proband name, date of birth, and accession number (if available) on the Test Requisition Form or Test Order.
  • If a proband was tested by an outside clinical/research laboratory, please submit a copy of the proband's original test report containing the mutation and gene transcript information. In addition, submission of a positive control sample such as proband blood or DNA sample would be required for this testing (DNA must be extracted in the CAP/CLIA-certified laboratory).
  • If testing is on cord blood or amniotic fluid, a maternal blood sample is required for Maternal Cell Contamination (MCC) studies.
  • Prenatal testing will only be performed on pathogenic or likely pathogenic variants previously identified on a family member tested at IGM.

Although blood sample is the preferred sample type, saliva sample and buccal swab sample are also accepted for this test. For any questions, please call (614) 722-5321 and ask to speak with a laboratory genetic counselor.

Clinical Information

This is a targeted constitutional/germline variant (mutation) analysis available to family members of a proband with known variant(s) previously identified by clinical or research sequence analysis. This test can also be used as  clinical confirmation testing for a proband who previously had variant(s) identified by research sequence analysis. This targeted mutation testing is available for any gene found in the human genome and is performed by Sanger sequencing. 

Synonyms

  • FVTS, Familial gene sequencing, Familial variant analysis, Single site mutation testing, Single-site mutation testing, Mutation confirmation, Confirmatory mutation testing, Known mutation testing, Targeted mutation testing, Targeted variant analysis, Targeted germline mutation testing, Single mutation testing, Targeted Sanger sequencing, Germline targeted variant analysis, Familial mutation analysis, IGM Test

Methodology

DNA extraction, Polymerase chain reaction (PCR), Sanger sequencing

CPT Codes

81403

Estimated Patient Price

< $1,000

DC Code

5321

Downtime Availability

4-Not available

Lab Area

Lab Area
Institute for Genomic Medicine