Special Collection

Product of conception tissue is required. Submission of maternal blood for MCC studies is highly recommended.

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Fresh) Tissue culture transport media   Preferred
Tissue (Fresh) Sterile container with saline   Alternate
Whole blood-MCC studies 4 mL Purple tube (EDTA) 4 mL-maternal sample Preferred
Buccal swab-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-MCC studies Oragene saliva collection kit 2 tubes Alternate

Outpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                               Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

 

Unacceptable Conditions

Fixed specimen, Frozen specimen, Formalin Fixed Tissue, Tissue degradation, Inadequate tissue

Stability

Tissue (Fresh): Refrigerated 24 hour(s)
Tissue (Fresh): Refrigerated 24 hour(s)

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature-7 days

Saliva: Room temperature-6 months

Remarks

Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

Microarray analysis, DNA extraction

CPT Codes

81229

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test

Special Collection

Product of conception tissue is required. Submission of maternal blood for MCC studies is highly recommended.

Inpatient Submit with Specimen

Genetics Products of Conception (POC) Fetal Tissue Requisition Internal

NCH internal providers, for Products of Conception (POC) samples use the NCH Internal Genetics POC Fetal Tissue Requisition (do NOT place Epic orders). 
 

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Fresh) Tissue culture transport media   Preferred
Tissue (Fresh) Sterile container with saline   Alternate
Whole blood-MCC studies 4 mL Purple tube (EDTA) 4 mL-maternal sample Preferred
Buccal swab-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-MCC studies Oragene saliva collection kit 2 tubes Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Whole blood-MCC studies 4 mL Purple tube (EDTA) 2 mL maternal sample
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                                Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Fixed specimen, Frozen specimen, Formalin Fixed Tissue, Tissue degradation, Inadequate tissue

Stability

Tissue (Fresh): Refrigerated 24 hour(s)
Tissue (Fresh): Refrigerated 24 hour(s)

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature-7 days

Saliva: Room temperature-6 months

Remarks

Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81229

Lab Area

Institute for Genomic Medicine

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test

Estimated Patient Price

$2,500 - $5,000

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test

CPT Codes

81229

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Methodology

Microarray analysis, DNA extraction

Special Collection

Product of conception tissue is required. Submission of maternal blood for MCC studies is highly recommended.

Inpatient Submit with Specimen

Genetics Products of Conception (POC) Fetal Tissue Requisition Internal

NCH internal providers, for Products of Conception (POC) samples use the NCH Internal Genetics POC Fetal Tissue Requisition (do NOT place Epic orders). 
 

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Fresh) Tissue culture transport media   Preferred
Tissue (Fresh) Sterile container with saline   Alternate
Whole blood-MCC studies 4 mL Purple tube (EDTA) 4 mL-maternal sample Preferred
Buccal swab-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-MCC studies Oragene saliva collection kit 2 tubes Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Whole blood-MCC studies 4 mL Purple tube (EDTA) 2 mL maternal sample
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                                Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Outpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                               Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

 

InLab Processing

STAT/TIME SENTITIVE SPECIMEN. CPA needs to order SGENSP in Sunquest for Non-EPIC lab order. Send to Cytogenetics Lab ASAP with requisition form and all submitted paperwork.

Stability

Tissue (Fresh): Refrigerated 24 hour(s)
Tissue (Fresh): Refrigerated 24 hour(s)

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature-7 days

Saliva: Room temperature-6 months

Unacceptable Conditions

Fixed specimen, Frozen specimen, Formalin Fixed Tissue, Tissue degradation, Inadequate tissue

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test

Methodology

Microarray analysis, DNA extraction

CPT Codes

81229

Estimated Patient Price

$2,500 - $5,000

DC Code

5321

Downtime Availability

4-Not available
Outpatient Requirements

Special Collection

Product of conception tissue is required. Submission of maternal blood for MCC studies is highly recommended.

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Fresh) Tissue culture transport media   Preferred
Tissue (Fresh) Sterile container with saline   Alternate
Whole blood-MCC studies 4 mL Purple tube (EDTA) 4 mL-maternal sample Preferred
Buccal swab-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-MCC studies Oragene saliva collection kit 2 tubes Alternate

Outpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                               Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

 

Unacceptable Conditions

Fixed specimen, Frozen specimen, Formalin Fixed Tissue, Tissue degradation, Inadequate tissue

Stability

Tissue (Fresh): Refrigerated 24 hour(s)
Tissue (Fresh): Refrigerated 24 hour(s)

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature-7 days

Saliva: Room temperature-6 months

Remarks

Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Lab Area

Institute for Genomic Medicine

Methodology

Microarray analysis, DNA extraction

CPT Codes

81229

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test
Inpatient Requirements

Special Collection

Product of conception tissue is required. Submission of maternal blood for MCC studies is highly recommended.

Inpatient Submit with Specimen

Genetics Products of Conception (POC) Fetal Tissue Requisition Internal

NCH internal providers, for Products of Conception (POC) samples use the NCH Internal Genetics POC Fetal Tissue Requisition (do NOT place Epic orders). 
 

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Fresh) Tissue culture transport media   Preferred
Tissue (Fresh) Sterile container with saline   Alternate
Whole blood-MCC studies 4 mL Purple tube (EDTA) 4 mL-maternal sample Preferred
Buccal swab-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-MCC studies Oragene saliva collection kit 2 tubes Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Whole blood-MCC studies 4 mL Purple tube (EDTA) 2 mL maternal sample
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                                Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Unacceptable Conditions

Fixed specimen, Frozen specimen, Formalin Fixed Tissue, Tissue degradation, Inadequate tissue

Stability

Tissue (Fresh): Refrigerated 24 hour(s)
Tissue (Fresh): Refrigerated 24 hour(s)

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature-7 days

Saliva: Room temperature-6 months

Remarks

Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

CPT Codes

81229

Lab Area

Institute for Genomic Medicine

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test

Estimated Patient Price

$2,500 - $5,000
Overview/Billing

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test

CPT Codes

81229
Interpretation

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Methodology

Microarray analysis, DNA extraction
NCH Lab Only

Special Collection

Product of conception tissue is required. Submission of maternal blood for MCC studies is highly recommended.

Inpatient Submit with Specimen

Genetics Products of Conception (POC) Fetal Tissue Requisition Internal

NCH internal providers, for Products of Conception (POC) samples use the NCH Internal Genetics POC Fetal Tissue Requisition (do NOT place Epic orders). 
 

Collect

Specimen Type Type of Container Volume of Specimen Status
Tissue (Fresh) Tissue culture transport media   Preferred
Tissue (Fresh) Sterile container with saline   Alternate
Whole blood-MCC studies 4 mL Purple tube (EDTA) 4 mL-maternal sample Preferred
Buccal swab-MCC studies Buccal swab kit 4 swabs Alternate
Saliva-MCC studies Oragene saliva collection kit 2 tubes Alternate

Minimum Volume

Specimen Type Type of Container Minimum Volume
Tissue (Fresh) Tissue culture transport media  
Tissue (Fresh) Sterile container with saline  
Whole blood-MCC studies 4 mL Purple tube (EDTA) 2 mL maternal sample
Buccal swab-MCC studies Buccal swab kit 2 swabs
Saliva-MCC studies Oragene saliva collection kit 1 tube

Inpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                                Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

Outpatient Specimen Preparation

Tissue (Fresh): Do not formalin fix the sample
                         Do not freeze
                         If delay in transport is greater than 24 hours, refrigerate
                         Transport to the lab immediately after collection

Maternal Whole blood for MCC studies: Do not centrifuge
                                                                Do not freeze
                                                               Keep at room temperature or refrigerate

Buccal swab: Keep at room temperature

Saliva: Keep at room temperature

 

InLab Processing

STAT/TIME SENTITIVE SPECIMEN. CPA needs to order SGENSP in Sunquest for Non-EPIC lab order. Send to Cytogenetics Lab ASAP with requisition form and all submitted paperwork.

Stability

Tissue (Fresh): Refrigerated 24 hour(s)
Tissue (Fresh): Refrigerated 24 hour(s)

Whole blood: Room temperature 24 hour(s)
Whole blood: Refrigerated 72 hour(s)

Buccal swab: Room temperature-7 days

Saliva: Room temperature-6 months

Unacceptable Conditions

Fixed specimen, Frozen specimen, Formalin Fixed Tissue, Tissue degradation, Inadequate tissue

Days Performed

Monday through Friday

Set Up Schedule

All tests not performed daily.

Typical Turnaround

3 weeks

Remarks

Completed Products of Conception (POC) Requisition Form is required. Please submit POC tissue sample in a sterile container containing tissue transport media or sterile saline. Testing can be performed on fresh tissue sample, frozen POC tissue sample, or on cultured cells from the submitted tissue sample. Formalin-fixed tissue sample is currently NOT accepted for this test. Submission of maternal blood sample is NOT required, although it is recommended to perform maternal cell contamination study. If the mother and the father of pregnancy are known to be consanguineous, please provide reported parental relationship information on the requisition form.

Clinical Information

 

While many factors contribute to pregnancy loss and fetal demise (including maternal conditions, environmental exposures, and fetal abnormalities), a chromosome abnormality is present in greater than 50% of first trimester losses and about 20% of second-trimester losses. Determining the cause of a loss could have important implications for evaluating recurrence risk for future pregnancies and future obstetrical management.

This chromosomal microarray analysis evaluates for DNA copy number abnormalities (genomic losses and gains) and large regions of homozygosity (ROH) across the genome. This SNP microarray analysis contains approximately 850k empirically selected single nucleotide polymorphisms (SNPs) spanning the genome with enriched disease-focused coverage for 3262 dosage-sensitive genes.  This enhanced SNP coverage has an average spacing of one probe every 5kb throughout the genome and one probe every 1 kb in regions associated with genetic disease. CNV calls are based on approximately 10 contiguous probes.

This test can detect submicroscopic genomic losses and gains not detectable by routine chromosome analysis (e.g. 22q11.21 microdeletion for DiGeorge syndrome, submicroscopic unbalanced translocations, etc), as well as large imbalances detectable by routine chromosome analysis (e.g. loss or gain of entire chromosome, large unbalanced translocations/inversions). Genomic loss or gain of certain chromosomal region is known to cause or predispose to phenotypic abnormality. Some genomic loss or gain may have unknown clinical significance at this time. Copy number changes less than 1 Mb for deletions and less than 2 Mb for gains may not be reported. All findings will be analyzed and reported using Genome build GRCh38. 

Presence of ROH is not diagnostic of any disorder, but it can suggest increased risk for two different classes of genetic disorders: disorders of imprinting (uniparental disomy; UPD) and recessive genetic disorders. Evidence suggestive of a blood relationship between the parents (parental consanguinity) also may be revealed. If parental consanguinity is known, please provide reported parental relationship information on the requisition form.

PLEASE NOTE: Microarray analysis may not be able to detect the presence of mosaicism if abnormality is present in less than 30% of cells. Microarray analysis cannot detect balanced chromosomal rearrangements, such as a balanced translocation, balanced inversion, and balanced insertion.

Synonyms

  • POC microarray, POC array, POC oligonucleotide microarray, POC SNP microarray, POC array comparative genomic hybridization (aCGH), POC aCGH, Fetal tissue microarray, Placental microarray, Pregnancy loss microarray, Umbilical cord microarray, Tissue microarray, Miscarriage microarray, IGM Test

Methodology

Microarray analysis, DNA extraction

CPT Codes

81229

Estimated Patient Price

$2,500 - $5,000

DC Code

5321

Downtime Availability

4-Not available

Lab Area

Lab Area
Institute for Genomic Medicine