Outpatient Submit with Specimen

Collect

Specimen TypeType of ContainerVolume of SpecimenStatus
Amniotic fluid Sterile container20 mL-35 mLPreferred

Outpatient Specimen Preparation

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

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling, Not received within specified time frame, Wrong collection tube

Stability

Amniotic fluid: Room temperature 24 hour(s)

Remarks

Submission of a completed Prenatal Genetic Test Requisition Form is required. To access the form, please click on Lab Form link at the bottom of this page.

Please collect minimum of 15 mL amniotic fluid in a non-toxic, sterile container. Transport the sample at room temperature and send to the laboratory within 24 hours from collection time. DO NOT freeze the sample.

  • If Aneuploidy FISH Screen for common aneuploidies (chromosomes 13, 18, 21, X and Y; see test code: GEN3) is also ordered, submit additional 5-10 mL amniotic fluid.
  • If amniotic fluid AFP with reflex to AChE and fetal hemoglobin, infectious disease qualitative PCR, and/or 7-dehydrocholesterol biochemical study (Smith-Lemli-Opitz syndrome testing) is also ordered, submit 2-3 mL additional amniotic fluid. Although direct (unspun) fluid is always preferred, supernatant fluid can also be used as alternate sample for these tests.
  • If Prenatal Microarray Analysis is also desired, please submit maternal sample (4 mL blood in EDTA tube) for maternal cell contamination study.
  • If additional testing on cultured amniocytes is also ordered (e.g., send out cultured cells to another laboratory), submit additional 5-10 mL amniotic fluid and call Cytogenetics Lab to speak with a laboratory genetic counselor to coordinate. For molecular genetic testing to be performed on cultured amniocytes, submission of maternal sample (4 mL blood in EDTA tube) is also recommended to perform maternal cell contamination study.
  • For sending out cultured amniocytes to another reference laboratory or to perform DNA isolation on cultured amniocytes, additional culture charge will be billed (under additional CPT code 88235).
  • If cryopreservation of cultured cells is requested, a portion of cultured cells will be frozen and stored for possible future testing. Cryopreservation charge will apply (CPT code 88240).

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Days Performed

Monday through Friday

Set Up Schedule

8:00-17:00

Typical Turnaround

2 weeks

Lab Area

Institute for Genomic Medicine

Methodology

Chromosomal analysis, Cell Culture

CPT Codes

88235, 88267, 88280

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Collect

Specimen TypeType of ContainerVolume of SpecimenStatus
Amniotic fluid Sterile container20 mL-35 mLPreferred

Minimum Volume

Specimen TypeType of ContainerMinimum Volume
Amniotic fluid Sterile container15 mL

Inpatient Specimen Preparation

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

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling, Not received within specified time frame, Wrong collection tube

Stability

Amniotic fluid: Room temperature 24 hour(s)

Remarks

Submission of a completed Prenatal Genetic Test Requisition Form is required. To access the form, please click on Lab Form link at the bottom of this page.

Please collect minimum of 15 mL amniotic fluid in a non-toxic, sterile container. Transport the sample at room temperature and send to the laboratory within 24 hours from collection time. DO NOT freeze the sample.

  • If Aneuploidy FISH Screen for common aneuploidies (chromosomes 13, 18, 21, X and Y; see test code: GEN3) is also ordered, submit additional 5-10 mL amniotic fluid.
  • If amniotic fluid AFP with reflex to AChE and fetal hemoglobin, infectious disease qualitative PCR, and/or 7-dehydrocholesterol biochemical study (Smith-Lemli-Opitz syndrome testing) is also ordered, submit 2-3 mL additional amniotic fluid. Although direct (unspun) fluid is always preferred, supernatant fluid can also be used as alternate sample for these tests.
  • If Prenatal Microarray Analysis is also desired, please submit maternal sample (4 mL blood in EDTA tube) for maternal cell contamination study.
  • If additional testing on cultured amniocytes is also ordered (e.g., send out cultured cells to another laboratory), submit additional 5-10 mL amniotic fluid and call Cytogenetics Lab to speak with a laboratory genetic counselor to coordinate. For molecular genetic testing to be performed on cultured amniocytes, submission of maternal sample (4 mL blood in EDTA tube) is also recommended to perform maternal cell contamination study.
  • For sending out cultured amniocytes to another reference laboratory or to perform DNA isolation on cultured amniocytes, additional culture charge will be billed (under additional CPT code 88235).
  • If cryopreservation of cultured cells is requested, a portion of cultured cells will be frozen and stored for possible future testing. Cryopreservation charge will apply (CPT code 88240).

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Days Performed

Monday through Friday

Set Up Schedule

8:00-17:00

Typical Turnaround

2 weeks

CPT Codes

88235, 88267, 88280

Lab Area

Institute for Genomic Medicine

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test

Estimated Patient Price

$1,000 - $2,500

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test

CPT Codes

88235, 88267, 88280

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Methodology

Chromosomal analysis, Cell Culture

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Outpatient Submit with Specimen

Collect

Specimen TypeType of ContainerVolume of SpecimenStatus
Amniotic fluid Sterile container20 mL-35 mLPreferred

Minimum Volume

Specimen TypeType of ContainerMinimum Volume
Amniotic fluid Sterile container15 mL

Inpatient Specimen Preparation

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

Outpatient Specimen Preparation

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

InLab Processing

STAT/TIME SENSITIVE SPECIMEN. CPA needs to order SGENSP in Sunquest for Non-EPIC lab order. Send to Cytogenetics Lab STAT with all paperwork sent with the sample.

Stability

Amniotic fluid: Room temperature 24 hour(s)

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling, Not received within specified time frame, Wrong collection tube

Days Performed

Monday through Friday

Set Up Schedule

8:00-17:00

Typical Turnaround

2 weeks

Remarks

Submission of a completed Prenatal Genetic Test Requisition Form is required. To access the form, please click on Lab Form link at the bottom of this page.

Please collect minimum of 15 mL amniotic fluid in a non-toxic, sterile container. Transport the sample at room temperature and send to the laboratory within 24 hours from collection time. DO NOT freeze the sample.

  • If Aneuploidy FISH Screen for common aneuploidies (chromosomes 13, 18, 21, X and Y; see test code: GEN3) is also ordered, submit additional 5-10 mL amniotic fluid.
  • If amniotic fluid AFP with reflex to AChE and fetal hemoglobin, infectious disease qualitative PCR, and/or 7-dehydrocholesterol biochemical study (Smith-Lemli-Opitz syndrome testing) is also ordered, submit 2-3 mL additional amniotic fluid. Although direct (unspun) fluid is always preferred, supernatant fluid can also be used as alternate sample for these tests.
  • If Prenatal Microarray Analysis is also desired, please submit maternal sample (4 mL blood in EDTA tube) for maternal cell contamination study.
  • If additional testing on cultured amniocytes is also ordered (e.g., send out cultured cells to another laboratory), submit additional 5-10 mL amniotic fluid and call Cytogenetics Lab to speak with a laboratory genetic counselor to coordinate. For molecular genetic testing to be performed on cultured amniocytes, submission of maternal sample (4 mL blood in EDTA tube) is also recommended to perform maternal cell contamination study.
  • For sending out cultured amniocytes to another reference laboratory or to perform DNA isolation on cultured amniocytes, additional culture charge will be billed (under additional CPT code 88235).
  • If cryopreservation of cultured cells is requested, a portion of cultured cells will be frozen and stored for possible future testing. Cryopreservation charge will apply (CPT code 88240).

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test

Methodology

Chromosomal analysis, Cell Culture

CPT Codes

88235, 88267, 88280

Estimated Patient Price

$1,000 - $2,500

DC Code

5321

Downtime Availability

4-Not available
Outpatient Requirements

Outpatient Submit with Specimen

Collect

Specimen TypeType of ContainerVolume of SpecimenStatus
Amniotic fluid Sterile container20 mL-35 mLPreferred

Outpatient Specimen Preparation

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

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling, Not received within specified time frame, Wrong collection tube

Stability

Amniotic fluid: Room temperature 24 hour(s)

Remarks

Submission of a completed Prenatal Genetic Test Requisition Form is required. To access the form, please click on Lab Form link at the bottom of this page.

Please collect minimum of 15 mL amniotic fluid in a non-toxic, sterile container. Transport the sample at room temperature and send to the laboratory within 24 hours from collection time. DO NOT freeze the sample.

  • If Aneuploidy FISH Screen for common aneuploidies (chromosomes 13, 18, 21, X and Y; see test code: GEN3) is also ordered, submit additional 5-10 mL amniotic fluid.
  • If amniotic fluid AFP with reflex to AChE and fetal hemoglobin, infectious disease qualitative PCR, and/or 7-dehydrocholesterol biochemical study (Smith-Lemli-Opitz syndrome testing) is also ordered, submit 2-3 mL additional amniotic fluid. Although direct (unspun) fluid is always preferred, supernatant fluid can also be used as alternate sample for these tests.
  • If Prenatal Microarray Analysis is also desired, please submit maternal sample (4 mL blood in EDTA tube) for maternal cell contamination study.
  • If additional testing on cultured amniocytes is also ordered (e.g., send out cultured cells to another laboratory), submit additional 5-10 mL amniotic fluid and call Cytogenetics Lab to speak with a laboratory genetic counselor to coordinate. For molecular genetic testing to be performed on cultured amniocytes, submission of maternal sample (4 mL blood in EDTA tube) is also recommended to perform maternal cell contamination study.
  • For sending out cultured amniocytes to another reference laboratory or to perform DNA isolation on cultured amniocytes, additional culture charge will be billed (under additional CPT code 88235).
  • If cryopreservation of cultured cells is requested, a portion of cultured cells will be frozen and stored for possible future testing. Cryopreservation charge will apply (CPT code 88240).

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Days Performed

Monday through Friday

Set Up Schedule

8:00-17:00

Typical Turnaround

2 weeks

Lab Area

Institute for Genomic Medicine

Methodology

Chromosomal analysis, Cell Culture

CPT Codes

88235, 88267, 88280

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test
Inpatient Requirements

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Collect

Specimen TypeType of ContainerVolume of SpecimenStatus
Amniotic fluid Sterile container20 mL-35 mLPreferred

Minimum Volume

Specimen TypeType of ContainerMinimum Volume
Amniotic fluid Sterile container15 mL

Inpatient Specimen Preparation

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

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling, Not received within specified time frame, Wrong collection tube

Stability

Amniotic fluid: Room temperature 24 hour(s)

Remarks

Submission of a completed Prenatal Genetic Test Requisition Form is required. To access the form, please click on Lab Form link at the bottom of this page.

Please collect minimum of 15 mL amniotic fluid in a non-toxic, sterile container. Transport the sample at room temperature and send to the laboratory within 24 hours from collection time. DO NOT freeze the sample.

  • If Aneuploidy FISH Screen for common aneuploidies (chromosomes 13, 18, 21, X and Y; see test code: GEN3) is also ordered, submit additional 5-10 mL amniotic fluid.
  • If amniotic fluid AFP with reflex to AChE and fetal hemoglobin, infectious disease qualitative PCR, and/or 7-dehydrocholesterol biochemical study (Smith-Lemli-Opitz syndrome testing) is also ordered, submit 2-3 mL additional amniotic fluid. Although direct (unspun) fluid is always preferred, supernatant fluid can also be used as alternate sample for these tests.
  • If Prenatal Microarray Analysis is also desired, please submit maternal sample (4 mL blood in EDTA tube) for maternal cell contamination study.
  • If additional testing on cultured amniocytes is also ordered (e.g., send out cultured cells to another laboratory), submit additional 5-10 mL amniotic fluid and call Cytogenetics Lab to speak with a laboratory genetic counselor to coordinate. For molecular genetic testing to be performed on cultured amniocytes, submission of maternal sample (4 mL blood in EDTA tube) is also recommended to perform maternal cell contamination study.
  • For sending out cultured amniocytes to another reference laboratory or to perform DNA isolation on cultured amniocytes, additional culture charge will be billed (under additional CPT code 88235).
  • If cryopreservation of cultured cells is requested, a portion of cultured cells will be frozen and stored for possible future testing. Cryopreservation charge will apply (CPT code 88240).

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Days Performed

Monday through Friday

Set Up Schedule

8:00-17:00

Typical Turnaround

2 weeks

CPT Codes

88235, 88267, 88280

Lab Area

Institute for Genomic Medicine

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test

Estimated Patient Price

$1,000 - $2,500
Overview/Billing

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test

CPT Codes

88235, 88267, 88280
Interpretation

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Methodology

Chromosomal analysis, Cell Culture
NCH Lab Only

Inpatient Submit with Specimen

Genetics Prenatal (MFM) Test Requisition Internal

NCH internal providers, for prenatal samples use the NCH Internal Genetics Prenatal (MFM) Test Requisition (do NOT place Epic orders).

Outpatient Submit with Specimen

Collect

Specimen TypeType of ContainerVolume of SpecimenStatus
Amniotic fluid Sterile container20 mL-35 mLPreferred

Minimum Volume

Specimen TypeType of ContainerMinimum Volume
Amniotic fluid Sterile container15 mL

Inpatient Specimen Preparation

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

Outpatient Specimen Preparation

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

InLab Processing

STAT/TIME SENSITIVE SPECIMEN. CPA needs to order SGENSP in Sunquest for Non-EPIC lab order. Send to Cytogenetics Lab STAT with all paperwork sent with the sample.

Stability

Amniotic fluid: Room temperature 24 hour(s)

Unacceptable Conditions

Fixed specimen, Frozen specimen, Delayed or improper handling, Not received within specified time frame, Wrong collection tube

Days Performed

Monday through Friday

Set Up Schedule

8:00-17:00

Typical Turnaround

2 weeks

Remarks

Submission of a completed Prenatal Genetic Test Requisition Form is required. To access the form, please click on Lab Form link at the bottom of this page.

Please collect minimum of 15 mL amniotic fluid in a non-toxic, sterile container. Transport the sample at room temperature and send to the laboratory within 24 hours from collection time. DO NOT freeze the sample.

  • If Aneuploidy FISH Screen for common aneuploidies (chromosomes 13, 18, 21, X and Y; see test code: GEN3) is also ordered, submit additional 5-10 mL amniotic fluid.
  • If amniotic fluid AFP with reflex to AChE and fetal hemoglobin, infectious disease qualitative PCR, and/or 7-dehydrocholesterol biochemical study (Smith-Lemli-Opitz syndrome testing) is also ordered, submit 2-3 mL additional amniotic fluid. Although direct (unspun) fluid is always preferred, supernatant fluid can also be used as alternate sample for these tests.
  • If Prenatal Microarray Analysis is also desired, please submit maternal sample (4 mL blood in EDTA tube) for maternal cell contamination study.
  • If additional testing on cultured amniocytes is also ordered (e.g., send out cultured cells to another laboratory), submit additional 5-10 mL amniotic fluid and call Cytogenetics Lab to speak with a laboratory genetic counselor to coordinate. For molecular genetic testing to be performed on cultured amniocytes, submission of maternal sample (4 mL blood in EDTA tube) is also recommended to perform maternal cell contamination study.
  • For sending out cultured amniocytes to another reference laboratory or to perform DNA isolation on cultured amniocytes, additional culture charge will be billed (under additional CPT code 88235).
  • If cryopreservation of cultured cells is requested, a portion of cultured cells will be frozen and stored for possible future testing. Cryopreservation charge will apply (CPT code 88240).

Clinical Information

This test is used to evaluate fetal chromosomes for numerical and gross structural abnormalities (e.g. translocations, inversions). Common indications for study include advanced maternal age, abnormal prenatal screening test such as maternal serum quad screen or noninvasive prenatal testing/screening (NIPT/NIPS), abnormal fetal ultrasound exam, and family history of chromosome abnormality.

For this test, fetal cells contained in amniotic fluid will be cultured, then cultured metaphase cells will be used to perform chromosome analysis. Cells from 15 colonies will be evaluated for this test, unless poor cell growth prohibits. Turnaround time for results varies depending on the rate of cell growth in culture, but results are typically available in 8-10 days. To evaluate for the presence of low-level mosaicism for chromosomal abnormalities, mosaicism study can be ordered along with chromosome analysis (which will be performed with extra charges, CPT code 88263), and chromosomes in additional colonies will be evaluated. To request for mosaicism study, please indicate this request on the test requisition form.

If additional FISH or mosaicism studies are recommended to assist in the result interpretation by the director, the clinician will be notified.

Synonyms

  • Amniotic fluid karyotype, Amnioticentesis sample karyotype, Amniocyte karyotype, Amniotic fluid karyotyping, Prenatal chromosome analysis, NIPT / NIPS confirmation study, Fetal karyotyping, Fetal chromosome analysis, Fetal karyotype, IGM Test

Methodology

Chromosomal analysis, Cell Culture

CPT Codes

88235, 88267, 88280

Estimated Patient Price

$1,000 - $2,500

DC Code

5321

Downtime Availability

4-Not available

Lab Area

Lab Area
Institute for Genomic Medicine